Genetics Could Explain Smokers’ Preference for Menthol Cigarettes

MedicalResearch.com Interview with:

Dennis Drayna, PhD Chief of the Laboratory of Communication Disorders and the Section on Genetics of Communication Disorders National Institute on Deafness and Other Communication Disorders Part of the National Institutes of Health

DR. Drayna

Dennis Drayna, PhD
Chief of the Laboratory of Communication Disorders and the Section on Genetics of Communication Disorders
National Institute on Deafness and Other Communication Disorders
Part of the National Institutes of Health

MedicalResearch.com: What is the background for this study?

Response: In the United States, there are striking racial differences in the rate of menthol cigarette use.  Tobacco use is a major preventable source of morbidity and mortality in the population, and menthol cigarette use by African Americans represents an important issue for attempts to address minority health disparities.

There have been many studies that have documented the role of inherited factors that contribute to smoking or tobacco use.  However, no studies have examined the role of genetic factors specifically in menthol tobacco use.  The preference for menthol cigarettes among African Americans has previously been attributed to cultural factors or industry advertising practices directed at this group.

In our study, we asked whether genetic factors could explain why African-American smokers choose menthol cigarettes over non-menthol cigarettes. Our initial hypothesis was that variation in genes that encode the known menthol receptors was important in this difference, although we designed our study to look at all 21,000 protein-coding genes in the genome.

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Mutations Linked to Scarring Hair Loss in African American Women Identified

MedicalResearch.com Interview with:

Cicatricial Alopecia Courtesy of Dr. Amy McMichael MD The Department of Dermatology Wake Forest Baptist Medical Center Winston-Salem, North Carolina 

Cicatricial Alopecia
Courtesy of Dr. Amy McMichael MD
The Department of Dermatology
Wake Forest Baptist Medical Center
Winston-SalemNorth Carolina

Eli Sprecher MD PhD
Professor and Chair, Division of Dermatology
Deputy Director General for R&D and Innovation
Tel Aviv Sourasky Medical Center
Frederick Reiss Chair of Dermatology
Sackler Faculty of Medicine
Tel Aviv University, Tel Aviv, Israel and

MedicalResearch.com: What is the background for this study?

Response: Central centrifugal cicatricial alopecia (CCCA) is a form of hair loss (alopecia) which is extremely common and affects one in every 20 women of African origin. It starts usually during the fourth decade of life. Because it can be inherited from mothers to their children, it is thought to have a genetic basis. On the other hand, it is known to mainly affect women who use to groom their hair intensively. Thus it was thought that the disease stems from some form of inherited susceptibility to the damage incurred to the hair follicle by grooming habits.

In the study we published, we searched for the genetic basis of CCCA.

In contrast with the common form of alopecia (androgenetic alopecia or female pattern alopecia), CCCA is associated with scarring of the scalp skin, which means that once hair is lost, it will likely not re-grow.

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Genes Help Determine Whether You Are Shaped Like an Apple or Pear

MedicalResearch.com Interview with:

Ruth Loos, PhD The Charles Bronfman Professor in Personalized Medicine Director, Genetics of Obesity and Related Traits Program Co-Director, Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York, NY

Dr. Loos


Ruth Loos, PhD
The Charles Bronfman Professor in Personalized Medicine
Director, Genetics of Obesity and Related Traits Program
Co-Director, Charles Bronfman Institute for Personalized Medicine
Icahn School of Medicine at Mount Sinai
New York, NY

 

 

MedicalResearch.com: What is the background for this study? Which type of body fat distribution carries greater risk of diabetes or other obesity-related health disorders?

Response: Obesity broadly consists of two component; [1] there is overall body size (assessed using BMI) and [2] there is fat distribution (assessed using WHR). Both are “heritable”, which mean that they are in part determined by our genome (and the other part is determined by our lifestyle).

Over the past 15 years, geneticists have used an approach to screen the whole genome of thousands of people to identify genetic variations that differ between e.g. obese people vs non-obese people.

We have applied this approach to both components of obesity and have found so far that genes for “overall body size” seem to act in the brain, likely controlling hunger, satiety, reward, etc., whereas the genes that determine where in the body the excess fat will be stored when you gain weight (i.e. fat distribution) seem to act more “locally” at the fat cell level itself, determining the storage and release of fat.  Continue reading

12 Genetic Loci Associated with Human Healthspan

MedicalResearch.com Interview with:

Yurii Aulchenko Co-founder and Chief Scientist of PolyOmica

Yurii Aulchenko

Yurii Aulchenko Co-founder and Chief Scientist of PolyOmica
PolyOmica is a research & development company providing services and tools for quantitative genetics and functional genomics.

Peter Fedichev Founder and Chief Science Officer of Gero

Peter Fedichev

Peter Fedichev Founder and Chief Science Officer of Gero
Gero is a data-driven longevity company developing innovative therapies that will strongly extend the healthy period of life also known as healthspan

MedicalResearch.com: What is the background for this study? What are the main findings?

Peter Fedichev, Gero: Age is the most important risk factor behind age-related diseases and death. Lifespan has increased quite dramatically over the last 150-200 years mostly due to the eradication of early-life mortality. What we find, however, is that the healthspan, understood as the chronic diseases-free period, is also on the rise, but not so much. It appears that lifespan is modifiable by interventions, at least in lab animals. It is therefore crucial to understand if the biology behind human healthspan. Is it the same as that of lifespan? What are the molecular pathways and genetic factors controlling the healthspan? At the end, we would like to develop interventions that extend not only lifespan, but also the healthspan. Everyone wants to stay healthy!

Yurii Aulchenko, PolyOmica: We studied the incidence of the most prevalent age-related diseases in the large UK Biobank, one of the best repositories of biologically and medically relevant data from a very large cohort of aging individuals. We observed that the incidence (the chances of) all the major diseases increased exponentially with age. The diseases risk doubling time was about eight years, same as the mortality doubling time from the Gompertz mortality law, discovered as early as in 1825 and used in life insurance ever since. The similar patterns of age-dependent risk acceleration suggest a major common driver behind the diseases, that is most plausibly aging itself.

Peter Fedichev, Gero: The incidence of the diseases could, therefore, be used as a biomarker of aging process. We used the age at the onset of the first age-related disease (the end of healthspan) as the target for a genome-wide association study (GWAS) and identified as many as 12 genetic loci associated with human healthspan. Continue reading

Link Between Apolipoprotein E and Brain Hemorrhage Varies by Ethnicity

MedicalResearch.com Interview with:

Dr. Marini

Dr. Marini

Sandro Marini, MD
Research Fellow
Jonathan Rosand Laboratory
Massachusetts General Hospital
Boston, MA 02114

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: The epsilon(ε) 4 allele of the Apolipoprotein E (APOE) gene increases risk for Alzheimer’s disease (AD) and intracerebral hemorrhage (ICH).

In both diseases, it is believed to increase risk through the deposition of beta-amyloid within the brain and blood vessels, respectively. The effect of APOE ε4 on both AD and ICH risk changes across populations, for unclear reasons.

In our study, we confirmed the role of APOE ε4 for ICH risk in whites and found that the risk-increasing effect of the 4 allele is demonstrable in Hispanics only when balancing out the effect of hypertension.
Continue reading

Polygenic Risk Scores Linked to Intelligence, ADHD and Brain Findings

MedicalResearch.com Interview with:

Silvia Alemany ,PhD first author Barcelona Institute for Global Health (ISGlobal), a centre supported by "la Caixa". In collaboration with co-authors:

Dr. Alemany

Silvia Alemany, PhD first author
Barcelona Institute for Global Health (ISGlobal), a centre supported by “la Caixa”.

In collaboration with co-authors:
Philip Jansen,MD, MSc and
Tonya White, MD, PhD
Erasmus University Medical Center, Rotterdam

MedicalResearch.com: What is the background for this study?

Response: Individuals affected by psychiatric disorders can demonstrate morphological brain abnormalities when compared to healthy controls. Although both genetic and environmental factors can account for these brain abnormalities, we expect that genetic susceptibility for psychiatric disorders has the greatest influence on the development of the brain.

Genetic susceptibility for psychiatric disorders can be estimated at the individual level by generating polygenic risk scores. Using this methodology, genetic susceptibility to psychiatric disorders and cognition has been associated with behavior problems in childhood. These findings suggest that heritable neurobiological mechanisms are at play in very early in the course of the illnesses.

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Tinnitus: Study of Adoptees Suggests Genetic Predisposition

MedicalResearch.com Interview with:

Christopher R. Cederroth | Ph.D. Docent Associate Professor Experimental Audiology | Department of Physiology and Pharmacology Karolinska Institutet  Sweden

Dr. Cederroth

Christopher R. Cederroth | Ph.D. Docent
Associate Professor
Experimental Audiology | Department of Physiology and Pharmacology
Karolinska Institutet
Sweden

MedicalResearch.com: What is the background for this study?

Response: Tinnitus is experienced is experienced by a large proportion of the population and affects more than 15% of the population worldwide (estimated 70 million people in Europe). However, for near 3% of the population, tinnitus becomes a chronic bothersome and incapacitating symptom. Severe tinnitus interferes with sleep, mood, and concentration and thus impacts life quality, ultimately leading to sick leave and disability pension. A high cost to society has been reported, and since the prevalence of tinnitus has been predicted to double in Europe by 2050, there is an important need for an effective treatment. And today there are none, with the exception of cognitive behavioral therapy, which helps coping with it but does not remove the tinnitus. There has been a number of innovative treatment approaches, but they are overall not successful and it is now agreed that it is likely because tinnitus is a heterogeneous condition – meaning that we cannot consider tinnitus a single entity but an ensemble of different forms or subtypes, which need to be defined.

Tinnitus has always been considered a condition influenced by environmental factors, but our initial studies suggested the opposite. Adoption studies are excellent in showing the influence of shared-environment effects and establish a genetic basis for a disease or a trait. It allows to test the transmission of a trait between the adoptee and their biological or their adoptive parent. Transmission via the biological parent is expected to be due to a heritable genetic effect, while transmission via the adoptive parent is associated with home-environment, the so-called shared-environmental effect. We used medical registry data to identify tinnitus patients and adoptees.

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Paternal Grandfather’s Access to Food Predicts All-Cause and Cancer Mortality in Grandsons

MedicalResearch.com Interview with:

Denny Vågerö  PhD MSc CHESS, Centre for Health Equity Studies Department of Public Health Sciences Stockholm University, Stockholm, Sweden

Dr. Vågerö

Denny Vågerö  PhD MSc
CHESS, Centre for Health Equity Studies
Department of Public Health Sciences
Stockholm University, Stockholm, Sweden

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Transgenerational, epigenetic, response, has been shown in studies of animals and plants. Does it apply to humans?

Previous findings of associations between grandparents early nutrition and grandchildren’s mortality have been controversial.  Two reasons for this: evidence in human studies has been based on rather small numbers and potential mechanisms are not very well understood.

We have tested the hypothesis that there is “a male line transgenerational response” to nutritional events in pre-puberty in a study much larger than previous ones.

We find support for this hypothesis in that boys who enjoyed unusually good access to food during their “slow growth period” (aged 9-12 years) seem to transmit a mortality risk on their grandsons but not granddaughters, in particular for cancer.

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Some Anti-Tumor Drugs May Promote Delayed Aggressive Cancers

MedicalResearch.comInterview with:
Alexandra Avgustinova PhD
Postdoctoral fellow at the Institute for Research in Biomedicine (IRBBarcelona)

Dr. Avgustinova
Dr. Avgustinova

MedicalResearch.com:  What is the background for this study?

Response: The basis of this study was the strong association between closed chromatin and high mutation rate reported several years ago. We were surprised to see this observation being widely interpreted as a causal association, as it was largely based on correlative studies without experimental backing. Therefore we decided to experimentally test for the first time whether indeed altering chromatin opening would affect mutation rate or distribution within tumours.

MedicalResearch.com: What are the main findings?

Response: We found that, despite significantly increasing chromatin opening, loss of the histone methyltransferase G9a did not have any major influence on the mutation rate or distribution within cutaneous squamous cell carcinomas. These results demonstrate that chromatin opening does not play a major role in determining the mutation rate within tumours, and we speculate that other, confounded factors (e.g. replication timing or H3K36me3 levels) are likely causal for the observed association. This, however, remains to be proven experimentally.

Another major conclusion of our study was that although tumour initiation was delayed and tumour burden decreased in the absence of G9a, the tumours that did develop were highly aggressive due to selection for more aggressive tumour clones. This finding was contrary to many published reports suggesting G9a as a good candidate for clinical targeting, highlighting the need for long-term follow-up in pre-clinical studies.

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Using of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US

MedicalResearch.com Interview with:

Kenneth H. Kraemer,M.D.
Chief DNA Repair Section
Laboratory of Cancer Biology and Genetics, Center for Cancer Research
National Cancer Institute

MedicalResearch.com:  What is the background for this study?

Response: At the National Cancer Institute, we have been examining patients with xeroderma pigmentosum (XP), a rare, recessively inherited, cancer-prone disease for many years. Therefore, with the increasing use of exome sequencing, we decided to see how closely”big data” corresponded with our clinical observations.  

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Genome Analysis Can Overestimate Incidence of Chronic Kidney Disease

MedicalResearch.com Interview with:

Hila Milo Rasoul, PhD Postdoctoral research scientist Ali Gharavi Lab Columbia University

Dr. Milo Rasouly

Hila Milo Rasouly, PhD
Postdoctoral research scientist
Ali Gharavi Lab
Columbia University

MedicalResearch.com: What is the background for this study?

Response: Genome sequencing is increasingly used in clinical medicine to help make a clinical diagnosis and make predictions about potential future complications. The diagnostic yield and limitations for different indications are still being worked out.  We are interested in studying the applications of genome sequencing for chronic kidney diseases. It is estimated that 10% of adults have chronic kidney disease (CKD), and amongst them, 10% are caused by single-gene (Mendelian) forms of disease.

The American College of Medical Genetics and Genomics developed guidelines on how to interpret genetic variants in order to make a genetic diagnosis. Our lab has been engaged in studying the yield and impact of genetic testing for  CKD, and in the course of our research, we realized that a very large number of individuals have genetic variants that may be classified as pathogenic based on automated application of the guidelines. However, in majority of these cases, the genetic variant was much too frequent in the population to be plausibly disease-causing or did not match up well with the clinical diagnosis. This led us to wonder about the risk of false-positive genetic diagnosis. To analyze this risk for false-positive genetic diagnosis, we analyzed the genome sequence of 7,974 self-reported healthy adults.

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Eczema Determined by Genetics or Environment?

MedicalResearch.com Interview with:
“Eczema” by NIAID is licensed under CC BY 2.0Hans Bisgaard, MD, DMSc

Professor of Pediatrics
C‌openhagen U‌niversity H‌ospital, H‌erlev-G‌entofte
Copenhagen

MedicalResearch.com: What is the background for this study? What are the main findings?

 Response: The uniqueness of this study, is that we for the first time have day-to-day recordings of symptoms and use og local treatment during the first 3 years of life showing the disease peaks at 2 years of age and children start outgrowing thereafter.Previous studies including our own have analyzed eczema at a certain age.Since eczema is highly variable over time, our disease description is novel.This has allowed us a more reliable analyses of factors determining eczema in young children 

MedicalResearch.com: What should readers take away from your report?

Response: What we see it that eczema is determined by genetics and with no know external factors causing or deteriorating the severity.

 MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: We are currently aiming to analyze the interaction between genetics and the environment. In other words though eczema is highly genetically determined, we have reason to believe that external factors triggers such genes.
 No conflicts of interest   

Citation:  

Thorsteinsdottir S, Stokholm J, Thyssen JP, et al. Genetic, Clinical, and Environmental Factors Associated With Persistent Atopic Dermatitis in Childhood. JAMA Dermatol. Published online November 14, 2018. doi:10.1001/jamadermatol.2018.4061

 

Nov 15, 2018 @ 12:52 pm

  The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website. 

Genetic Variant is Risk Factor for Two Different Types of Interstitial Lung Disease

MedicalResearch.com Interview with:

Joyce S. Lee, MD Associate Professor Director, Interstitial Lung Disease Program Department of Medicine Division of Pulmonary Sciences and Critical Care Medicine University of Colorado School of Medicine

Dr. Lee

Joyce S. Lee, MD
Associate Professor
Director, Interstitial Lung Disease Program
Department of Medicine
Division of Pulmonary Sciences and Critical Care Medicine
University of Colorado School of Medicine

MedicalResearch.com: What is the background for this study? What are the main findings? 

Response: Rheumatoid arthritis (RA) is a common inflammatory arthritis that can be complicated by interstitial lung disease (ILD). Patients with RA-ILD share clinical characteristics with another ILD called idiopathic pulmonary fibrosis (IPF).

Given the similar clinical phenotype, our goal was to see if these lung diseases (IPF and RA-ILD) shared a common genetic risk factor. The MUC5B promoter variant is the most common risk factor (genetic and otherwise) for the development of IPF.

Our findings demonstrate the MUC5B promoter variant is also a strong risk factor for the development of RA-ILD among patients with RA.

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Genetic Locus Linked to Migraine Risk in African American Children

MedicalResearch.com Interview with:
"DNA model" by Caroline Davis2010 is licensed under CC BY 2.0Hakon Hakonarson, MD, PhD
Corresponding Author
Xiao Chang, PhD
Lead Author
The Center for Applied Genomics
Children’s Hospital Philadelphia
PhiladelphiaPennsylvania

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Migraine is a genetic disorder characterized by recurrent and intense headaches often accompanied by visual disturbances. Genome-wide association studies (GWASs) are a powerful hypothesis-free tool for investigating the genetic architecture of human disease. Currently, multiple GWASs have been conducted on European adults with migraine that have successfully identified several migraine susceptibility genes involved in neuronal and vascular functions.

Considering the prevalence of migraines varies across ethnicities, the genetic risk factors may be different in patients of African ancestries and European ancestries. In addition, if migraine presents at an early age (childhood), it may reflect elevated biological predisposition from genetic factors or increased susceptibility to environmental risk factors.

We performed the first GWAS to investigate the susceptibility genes associated with migraine in African-American children. The main out come was that common variants at the 5q33.1 locus in the human genome are associated with migraine risk in African-American children. The genetic underpinnings at this locus responsible for this finding are less relevant in patients of European ancestry.  Continue reading

Strong Genetic Component to Psychotic-Like Experiences with Cannabis

MedicalResearch.com Interview with:
Dr. Nicole Karcher, PhD
Post-doctoral scholar with the NIMH Training in Clinical Sciences fellowship
Department of Psychiatry
Washington University School of Medicine  

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: For over fifteen years, researchers have debated the role that cannabis use plays in the development of both psychotic disorders as well as subthreshold psychotic symptoms, such as psychotic-like experiences (PLEs). There is still a lack of consensus regarding the nature of the association between cannabis use and psychosis risk, with some research finding evidence for genetic overlap, while other research finds evidence for potentially causal pathways.

The current study examined data from twins and siblings from two different samples, the U.S.-based Human Connectome Project and the Australian Twin Registry, with a total of 4,674 participants. Overall, psychotic-like experiences were associated with three separate cannabis use variables [frequent (≥100 times) use, a Cannabis Use Disorder diagnosis, and current cannabis use]. Furthermore, the current research found evidence for both shared genetic and individual-specific contributions to the association between PLEs and these three cannabis use variables. More specifically, while the association between cannabis use and psychotic-like experiences was largely attributable to shared genetic factors, cannabis users were more likely to endorse PLEs in comparison to the relative who used cannabis less.  Continue reading

Paternal Smoking Can Affect Multiple Generations of Descendants

MedicalResearch.com Interview with:
"Photo booth: The Smoking Man" by simpleinsomnia is licensed under CC BY 2.0Pradeep G. Bhide, Ph.D.
Professor | Jim and Betty Ann Rodgers Eminent Scholar Chair of Developmental Neuroscience
Director, Center for Brain Repair
Department of Biomedical Sciences
Florida State University College of Medicine
Tallahassee, FL

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Until now, much attention had been focused on the adverse effects of cigarette smoking by pregnant women on their children’s cognitive development. Some reports suggested that cigarette smoking during pregnancy can produce harmful effects in multiple generations of descendants (transgenerational effects).

Not much had been known about the effects of paternal smoking, although more men smoke cigarettes than women. Our study shows that paternal nicotine exposure can be deleterious to the offspring in multiple generations. That is, cognitive function may be compromised in children and grandchildren of a nicotine-exposed male. Of course, our study was done in mice and not men.  However, since studies done in mice on maternal nicotine exposure produced results consistent with studies done in women and children, we believe that he findings from our present study likely can be extrapolated to humans.  Continue reading

Breast Cancer: Gene Expression of Receptors on a Chip Can Enhance Precision Diagnosis

MedicalResearch.com Interview with:
"JFK Plaza/ Breast Cancer Awareness" by nakashi is licensed under CC BY 2.0Univ.- Prof. Dr. Wolfgang Schreiner
Section Biosimulation and Bioinformatics
Center for Medical Statistics, Informatics, and Intelligent Systems
Medical University of Vienna
General Hospital
WIEN / AUSTRIA

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: The choice of correct individualized therapy for breast cancer depends on correct diagnosis: receptors for estrogen, progesterone and HER2 are determined routinely. However 5-10% of these routine diagnostics are inaccurate and may entail suboptimal therapy.

We have paved the way for additional diagnostics from gene expression data so as to increase precision of diagnostics. Continue reading

Gene Variants Can Alter Glucose Absorption and Cardiometabolic Risks

MedicalResearch.com Interview with:

Scott David Solomon, MD Director, Noninvasive Cardiology Professor, Harvard Medical School Brigham and Women's Hospital

Dr. Solomon

Scott David Solomon, MD
Director, Noninvasive Cardiology
Professor, Harvard Medical School
Brigham and Women’s Hospital 

MedicalResearch.com: What is the background for this study? What are the main findings? 

Response: The sodium glucose transport proteins are known to be important in regulating uptake of glucose. SGLT-1 is predominantly located in the gut and is responsible for uptake of glucose and galactose in the small intestine. Individuals born with severe mutations of this gene have severe malabsorption syndrome.

We looked at genetic variants that lead to reduced function of the protein, but not complete loss of function, in a large cohort of individuals in the NIH funded Atherosclerosis Risk in Communities Study. We found that those with mutations in the gene had reduced glucose uptake, as measured by an oral glucose tolerance test, as well as less obesity, diabetes, heart failure and death.

Continue reading

Genetic Risk Score Improves Ability To Predict Diabetics at Risk of Coronary Disease

MedicalResearch.com Interview with:

Mario Luca Morieri

Dr. Morieri

Mario Luca Morieri MD
Section on Genetics and Epidemiology, Research Division, Joslin Diabetes Center
Department of Medicine, Harvard Medical School, Boston, MA

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Coronary artery disease (CAD) is one of the most important complications of diabetes.

Similarly to other complex disorders, CAD is influenced by both environmental and genetic factors. Over the last decade, our understanding of the genetic factors contributing to CAD has dramatically improved and hundreds of new genetic markers associated with increased cardiovascular risk have been identified.

In this study, we showed that combining these genetic markers into a single score (a so called genetic risk score) can improve our ability to the identify those patients with type 2 diabetes who are at higher risk of experiencing a coronary event. 

MedicalResearch.com: What should readers take away from your report? 

Response: One take-away message is that the genetic markers associated with CAD in persons without diabetes have a similar effect in people with diabetes. Another is that prediction of increased risk of CAD in people with diabetes can be improved with the combination of genetic markers with “classic” known markers of CAD such as high cholesterol and high blood pressure. Improving cardiovascular risk prediction will allow physicians to focus their effort on people at higher risk, making the allocation of health-care resources more efficient. 

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: We were able to replicate our findings (from the ACCORD trial) in another study including diabetic patients with similar characteristics (the ORIGIN trial). However, to improve the generalizability of the genetic risk score, its performance should be tested in populations with different clinical characteristics. With the detailed information provided in the paper, other researchers should be able to do this. Also, the genetic score reported in our paper applies to Whites as it was derived from genetic markers discovered in that ethnic group. It would be important to build a similar genetic risk score for people of different ancestry using genetic markers specific to those populations.

MedicalResearch.com: Is there anything else you would like to add? 

Response: We showed in the paper that the identification of an increasing number of genetic markers of CAD risk over the last 8 years has resulted into a progressive improvement in the performance of genetic risk scores for prediction of CAD risk. Thus, if new genetic markers of CAD continue to be identified over the next few years, the usefulness of these genetic scores may continue to increase. 

Citation:

Genetic Tools for Coronary Risk Assessment in Type 2 Diabetes: A Cohort Study From the ACCORD Clinical Trial

Mario Luca Morieri, He Gao, Marie Pigeyre, Hetal S. Shah, Jennifer Sjaarda, Christine Mendonca,Timothy Hastings, Patinut Buranasupkajorn, Alison A. Motsinger-Reif, Daniel M. Rotroff, Ronald J. Sigal,Santica M. Marcovina, Peter Kraft, John B. Buse, Michael J. Wagner, Hertzel C. Gerstein, Josyf C. Mychaleckyj, Guillaume Parè and Alessandro Doria

Diabetes Care 2018 Sep; dc180709.https://doi.org/10.2337/dc18-0709

Sep 29, 2018 @ 6:39 pm 

The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

 

Most Patients Who Carry BRCA1/2 Pathogenic Variants Are Unaware

MedicalResearch.com Interview with:

Michael F. Murray, MD, FACMG, FACP Director for Clinical Operations in the Center for Genomic Health Yale School of Medicine

Dr. Murray

Michael F. Murray, MD, FACMG, FACP
Director for Clinical Operations in the Center for Genomic Health
Yale School of Medicine

MedicalResearch.com: What is the background for this study?

Response: Population screening for the cancer risk associated with the BRCA1 and BRCA2 genes has been suggested by some.  We screened a cohort of about 50,000 adult patient volunteers at Geisinger Health System in Pennsylvania for this risk.  Continue reading

Age, Sex and Genetics Can Identify Groups at Higher Risk of Alzheimer’s Disease

MedicalResearch.com Interview with:

Ruth Frikke-Schmidt, Professor, Chief Physician, MD, DMSc, PhD Department of Clinical Biochemistry Rigshospitalet, Blegdamsvej & Deputy Head Department of Clinical Medicine Faculty of Health and Medical Sciences University of Copenhagen

Dr. Frikke-Schmidt

Ruth Frikke-Schmidt, Professor, Chief Physician, MD, DMSc, PhD
Department of Clinical Biochemistry
Rigshospitalet, Blegdamsvej &
Deputy Head
Department of Clinical Medicine
Faculty of Health and Medical Sciences
University of Copenhagen

MedicalResearch.com: What is the background for this study?

 

Response: Alzheimer’s disease and other forms of dementia are devastating, neurodegenerative disorders affecting more than 47 million people in 2015, a number projected to triple by 2050 (1,2). Available curative treatments are lacking, and no useful risk prediction tools exist. The potential for prevention is however substantial, emphasized by the recently observed incidence decline in Western societies, likely caused by improved treatment and prevention of vascular risk factors (1,3,4). Population growth and aging, will however triple dementia prevalence by 2050, if no action is taken. Acting now with ambitious preventive interventions, delaying onset of disease by five years, is estimated to halve the prevalence globally (1,5).

Despite important preventive efforts over the last decades – resulting in decreased smoking, lower blood pressure and lower cholesterol levels in the general population – physical inactivity, overweight, and diabetes remain threats for our health care system, and in particular for cardiovascular disease and dementia. Intensifying preventive efforts in general is thus of crucial importance, and especially for those patients at highest risk who most likely will benefit the most from early and targeted prevention. Risk stratification and specific treatment goals according to the estimated absolute 10-year risk, has been implemented in cardiovascular disease for years (6,7). There is an un-met need for similar strategies in dementia, underscored by the publication of several randomized multicomponent trials that seem to improve or maintain brain function in at-risk elderly people from the general population (8-10) Continue reading

Genetics of Aggressive Skin Cancers in Patients with ‘Butterfly’ Skin Identified

MedicalResearch.com Interview with:

Dr Andrew South, PhD, Associate Professor in the department of Dermatology and Cutaneous Biology at Jefferson (Philadelphia University + Thomas Jefferson University) 

Dr. South

Dr Andrew South, PhD,
Associate Professor in the department of Dermatology and Cutaneous Biology at Jefferson (Philadelphia University + Thomas Jefferson University) 

MedicalResearch.com: What is the background for this study? Would you briefly explain what is meant by Butterfly Syndrome or recessive dystrophic epidermolysis bullosa?

Response: Epidermolysis Bullosa, or EB, is a group of genetic diseases caused by mutations in genes which play a role in maintaining skin integrity. An EB patients’ skin can be very fragile which has been likened to butterfly wings, which are also very fragile. Skin blisters are common in EB patients and in some cases large wounds can result from the slightest mechanical trauma, hence the term Butterfly Syndrome.

Skin cancer is a major complication of patients with the recessive dystrophic subtype of EB, known as recessive dystrophic epidermolysis bullosa or RDEB, and these cancers, called squamous cell carcinoma (SCC), are very aggressive. SCC is the leading cause of death in patients with RDEB. SCC also arise very early, affecting RDEB patients in their 20’s and 30’s. Our study used genetic analysis of cancers collected from patients to try and determine what causes the cancer at such an early age and what causes these cancers to be so fatal. Skin SCC arising in the general population as a result of sun exposure are generally benign and occur much later in life, regular skin SCC patients are predominantly over the age of 60, therefore something must be different about RDEB SCC.  Continue reading

Significant Sex Differences in Genetic Associations with Longevity

MedicalResearch.com Interview with:

Yi Zeng, Ph.D.| Professor, Center for Study of Aging and Human Development and Geriatrics Division, School of Medicine, Duke University Professor, National School of Development, Chief Scientist of Raissun Institute for Advanced Studies, Peking University Distinguished Research Scholar, Max Planck Institute for Demographic Research Foreign member of the Royal Netherlands Academy of Arts and Sciences

Dr. Yi Zeng

Yi Zeng, Ph.D.|
Professor, Center for Study of Aging and Human Development and Geriatrics Division, School of Medicine, Duke University
Professor, National School of Development, Chief Scientist of Raissun Institute for Advanced Studies, Peking University
Distinguished Research Scholar, Max Planck Institute for Demographic Research
Foreign member of the Royal Netherlands Academy of Arts and Science

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Sex differences in genetic associations with human longevity remain largely unknown; investigations on this topic are important for individualized healthcare.

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Breast and Ovarian Cancers: More Genes Than BRCA1 and BRCA2

MedicalResearch.com Interview with:
Ambry GeneticsShuwei Li, PhD
Principal Statistical Geneticist
Ambry Genetics

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Breast cancer is the most commonly diagnosed cancer, while ovarian cancer is the fifth leading cause of death due to cancer, in US women. Since the discovery of BRCA1 and BRCA2, multiple genes have been reported as risk factors; however, it is still unclear whether the known findings represent the complete genetic landscape of breast and ovarian cancers.

Our team performed exome sequencing on more than 10,000 breast and/or ovarian cancer patients and nearly 4,000 controls. We observed increased risk of breast cancer associated with PALB2, ATM, CHEK2 and MSH6 genes, and increased risk of ovarian cancer associated with MSH6, RAD51C, TP53 and ATM genes.   Continue reading

Women Whose Mothers Lived to 90, Likely To Have Health Old Age

MedicalResearch.com Interview with:

Aladdin H. Shadyab, PhD  MS, MPH, CPH Department of Family and Preventive Medicine UCSD twitter.com/TheDrAladdin

Dr. Aladdin Shadyab

Aladdin H. Shadyab, PhD  MS, MPH, CPH
Department of Family Medicine and Public Health
University of California, San Diego
twitter.com/TheDrAladdin

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Previous studies have shown that offspring of long-lived parents are not only likely to live longer but to also avoid major chronic diseases (e.g., coronary heart disease), have fewer chronic disease risk factors, and to have better cognitive and physical function in late life. However, few studies have examined parental longevity in relation to an overall measure of successful aging that included reaching old age free of both major diseases and disabilities.

The objective of our study was to determine if parental longevity predicted healthy aging, defined as survival to age 90 without any major age-related diseases (coronary heart disease, stroke, diabetes, cancer, or hip fracture) or physical limitations. The participants of our study were from the Women’s Health Initiative, a large, longitudinal study among postmenopausal women from the United States.

We observed that women whose mothers survived to at least age 90 years were 25% more likely to achieve healthy aging. We also observed that women whose fathers only lived to age 90 did not have increased likelihood of healthy aging. However, women whose mother and father both lived to age 90 were the most likely to achieve healthy aging.

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