21 Feb Stanford Study Identifies Genetic Variant Linked to Alzheimer’s in African Americans
Posted at 19:26h
in Alzheimer's - Dementia, Author Interviews, Genetic Research, Race/Ethnic Diversity, Stanford
MedicalResearch.com Interview with:
[caption id="attachment_60059" align="alignleft" width="125"] Dr. Yann Le Guen[/caption]
Yann Le Guen, Ph.D.
Assistant Director, Computational Biology
Quantitative Sciences Unit
Stanford Medicine
MedicalResearch.com: What is the background for this study?
Response: Apart from aging, the strongest contributing factor for late-onset Alzheimer’s disease is a specific allele of the APOE gene, which has three common alleles E2, E3, and E4. While E3 is the most common and considered as the reference, E2 is associated with decreased Alzheimer’s disease risk and E4 is associated with increased Alzheimer’s disease risk. Notably the prevalence of E4 among Alzheimer’s patient is high with about 60% of these carrying at least one E4 allele, while solely about 30% Americans carry one E4 allele. It’s worth emphasizing that individuals with an E4/E4 genotype have an exponential increased in their risk to develop AD (10 times as likely than the reference E3/E3 genotype), and individuals with an E3/E4 genotype have an intermediate risk.
Though, most studies of Alzheimer’s disease genetic have been focused on European ancestry, this is beginning to change thanks to NIH’s efforts to fund more studies in non-European ancestry individuals. Our study built on these recent efforts to assess the Alzheimer disease risk associated with an APOE variant (R145C) present in about ~4% African Americans, but extremely rare in Europeans.
Dr. Mahdavi[/caption]
Dr. Sara Mahdavi, PhD
Clinical Scientist and Clinical Instructor
Research Appointment in the Faculty of Medicine
University of Toronto
Toronto, ON
MedicalResearch.com: What is the background for this study?
Response: This was a long-term study spanning 16 years and began with a population of young adults who were medically assessed on a regular basis. It was remarkable to see just how striking the effects of coffee were in the group that had the susceptible genetic variant, what we termed “slow caffeine metabolizers” yet no effect whatsoever in those who did not were termed “fast metabolizers”.
Kenya Colvin[/caption]
Kenya Colvin, MBS
Department of Medical Education
Scranton, PA
MedicalResearch.com: What is the background for this study?
Response: Vaccine hesitancy is a major driver of COVID-19 vaccination disparities between minority and non-Hispanic White communities. Our goal was to understand what factors influenced vaccine hesitancy among individuals in Eastern Pennsylvania to identify more effective ways to promote vaccine uptake within minority communities.
Dr. Pierce[/caption]
Karen Pierce, Ph.D.
Professor, Department of Neurosciences, UCSD
Co-Director, Autism Center of Excellence, UCSD
MedicalResearch.com: What is the background for this study?
Response: The mean age of ASD diagnosis and eventual treatment remains at ~52 months in the United States1 - years beyond the disorder’s prenatal origins2, and beyond the age when it can be reliably diagnosed in many cases3.
Currently the only way to determine if a child has autism spectrum disorder (ASD) is to receive a developmental evaluation from an experienced clinician (usually a licensed clinical psychologist). There are often long waiting lists, and only a small number of clinicians have the experience required to make early-age (i.e., between 12-36 months) diagnoses of ASD. Thus, there are many places in the country as well as world wide wherein children wait months or years to receive a formal diagnosis due to a lack of available expertise. Moreover, diagnostic evaluations are expensive and usually cost the parent and/or insurance approximately ~$2,000 or more per evaluation. Finally, clinical evaluations usually take between 2-3 hours to complete and result in fatigue for both the parent and toddler.
Eye-tracking, which generates biologically-relevant, objective, and quantifiable metrics of both visual and auditory preference profiles in babies and toddlers in just minutes, is a technology that can dramatically change how ASD is diagnosed.
Dr. Zhongshang Yuan[/caption]
Yuan, Zhongshang PhD
Department of Biostatistics
School of Public Health
Shandong University
Jinan, Shandong, China
What is the background for this study?
Response: Comorbidities and genetic correlations between gastrointestinal tract diseases and psychiatric disorders have been widely reported, with the gut-brain axis (GBA) hypothesized as a potential biological basis. However, it is unclear the degree to which the shared genetic determinants contribute to these associations underlying GBA.
Tom Arild Torstensen
Department of Neurobiology, Care Sciences and Society
Division of Physiotherapy,
Karolinska Institutet, Huddinge, Sweden and
Holten Institute, Stockholm, Sweden
MedicalResearch.com: What is the background for this study?
Response: People suffering from pain due to knee osteoarthritis (OA) is a major and increasing problem. There there is today good scientific evidence for different forms of exercise therapy, but there is no agreement regarding what type of exercises and what dose of exercise therapy is best. Thus, we wanted to investigate if high dose medical exercise therapy is superior to low dose.
Dr. Grandahl[/caption]
Maria Grandahl, Associate Professor, PhD, Senior lecturer
Director of Education in Nursing and Midwifery programs
Uppsala University
Department of Women’s and Children’s Health
on behalf of authors:
Dr Jenny Stern, Dr Eva-Lotta Funkquist and Dr Maria Grandahl
MedicalResearch.com: What is the background for this study?
Response: Conflicting advice and non-evidence-based recommendations have a negative effect on breastfeeding. Since 2011, the National Food Agency in Sweden has informed parents that they can introduce tiny tastings (1 mL of solid food, i.e. other sources of nutrition than breastmilk/formula) to infants from four months of age. It is unknown how national recommendations, which differ from the Word Health Organization’s recommendation, affect breastfeeding.
Dr. Hussain[/caption]
Dr Monira Hussain
Dr. Caraballo-Cordovez[/caption]
César Caraballo-Cordovez, MD
Casey Hribar[/caption]
Casey Hribar
Fourth-year medical student
University of North Carolina
MedicalResearch.com: What is the background for this study?
Response: Several great pieces of literature already exist about patient perception of doctors wearing white coats, formal attire, business attire, and the like. But recently, scrubs are garnering favor, especially as a result of the COVID-19 pandemic.
While there has been some interest in what is worn over scrubs (jackets, vests, name tags, etc.), to our knowledge, there has not been any investigation into scrub color. Scrubs are a highly variable article of clothing, from fit, to pockets, pattern, and color, and it makes sense that these variations could have their own associated perceptions. Our study served as a way to open up the conversation around scrubs and the potential impact of their color on patients.
Alden Mileto, BA
Department of Medical Education
Geisinger Commonwealth School of Medicine
Scranton, PA
MedicalResearch.com: What is the background for this study?
Response: The drug buprenorphine is a partial opioid agonist, originally developed in the 1960s as an alternative to the stronger full opioid mu receptor agonists like morphine. Today, the drug is sometimes used for pain, but is more often used as a treatment for Opioid Use Disorder (OUD). Since the 2002 federal approval for buprenorphine use in treatment of OUD, there has been an increase in buprenorphine prescription across all states.
However recent studies have showed a disproportionate increase in buprenorphine prescriptions to rural/ less populated areas in comparison to urban/densely populated areas. The objective of this study [1] was to analyze the trends in buprenorphine distribution, overall and by three-digit zip codes, in Pennsylvania from 2010-2020.
Dr. Goldman[/caption]
Anna L. Goldman, M.D., M.P.A., M.P.H
Assistant Professor of Medicine
General Internal Medicine