Hepatitis C Treatment After Kidney Transplant May Extend Lives and Decrease Costs

MedicalResearch.com Interview with:

Mark H. Eckman, MD Posey Professor of Clinical Medicine Director, Division of General Internal Medicine Director, Center for Clinical Effectiveness University of Cincinnati Medical Center Cincinnati, OH

Dr. Eckman

Mark H. Eckman, MD
Posey Professor of Clinical Medicine
Director, Division of General Internal Medicine
Director, Center for Clinical Effectiveness
University of Cincinnati Medical Center
Cincinnati, OH 

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

Response: People who are infected with hepatitis C virus and have kidney failure need a kidney transplant.

Recent studies have found that it is possible to transplant kidneys from donors who are infected with hepatitis C virus into patients who need a transplant and are already infected with the virus. In addition, drugs are available to cure most patients of hepatitis C virus, including those who have kidney failure. Infected patients who need a kidney transplant have 2 options. One option is to receive an infected kidney and then use drugs after the transplant to cure themselves and the transplanted kidney of the virus. Another option is to use the drugs first to get rid of the virus and then to receive a kidney from a donor who does not have hepatitis C virus infection.

For the more than 500,000 patients receiving dialysis for end-stage renal disease (ESRD), less than 4% receive kidney transplants. Because of the limited organ availability, hemodialysis is the final treatment for most patients with ESRD. Of the 10% or so of U.S. patients receiving dialysis who are infected with the hepatitis C virus (HCV), some are willing to accept HCV-infected kidneys, in part, because the wait times for such kidneys are shorter than those for HCV-uninfected kidneys. Because the yearly mortality rate for patients receiving hemodialysis is so high, between 4% and 16%, reducing the time to kidney transplant can have a dramatic effect on both survival and quality of life.

Because it may not be possible to do this type of research with actual people, we created a model that allowed us to estimate possible outcomes without using actual people.

The model was a computer program that combined the best available information to approximate what might happen to participants in a real-world clinical trial. Continue reading

Chronic Kidney Disease Patients Struggle to Make Meaning of Their Illness

MedicalResearch.com Interview with:

Dr. Ann M. O’Hare, MD Professor,Division of Nephrology University of Washington Investigator, VA HSR&D Center of Excellence Affiliate Investigator, Group Health Research Institute Seattle, WA 

Prof. O’Hare

Dr. Ann M. O’Hare, MD
Professor,Division of Nephrology
University of Washington
Investigator, VA HSR&D Center of Excellence
Affiliate Investigator, Group Health Research Institute
Seattle, WA

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

Response: We set out to conduct a qualitative study among patients with advanced kidney disease to learn about their thoughts and experience with advance care planning.

Our questions, especially at the beginning of the interview were quite broad and asked patients more generally about their experiences of illness and care. Although we did not ask patients about the emotional impact of illness and care, this came across as a strong theme when we analyzed the interviews, and that is what we describe here.

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Gabapentin and Pregabalin Should Be Used Cautiously in Hemodialysis Patients

MedicalResearch.com Interview with:

Dr. Julie H. Ishida MD Department of Medicine, Division of Nephrology University of California, San Francisco and San Francisco Veterans Affairs Medical Center

Dr. Ishida

Dr. Julie H. Ishida MD
Department of Medicine, Division of Nephrology
University of California, San Francisco and
San Francisco Veterans Affairs Medical Center

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

Response: Gabapentin and pregabalin are used for the management of symptoms such as neuropathic pain, itching, and restless leg syndrome in patients receiving hemodialysis. However, hemodialysis patients may be particularly vulnerable to adverse events related to these agents, which are cleared by the kidney, but there is limited data evaluating their risk in this population.

Gabapentin and pregabalin use were associated with risk for altered mental status, fall, and fracture, and in some cases, even at doses that would be considered safe for use in this population.  Continue reading

Does Drinking More Water Preserve Kidney Function?

MedicalResearch.com Interview with:
“Glass of Water” by Greg Riegler is licensed under CC BY 2.0Dr. William Clark
Lawson Health Research Institute 

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

Response:  This study is about the use of increased water intake in people with chronic kidney disease (CKD).

Although there are a large number of benefits claimed most are not substantiated by evidence. However there is a growing body of evidence (animal and human observational studies) that increased hydration with the suppression of antidiuretic hormone preserves kidney function in CKD. This led to our current randomised clinical trial of 631 patients with stage 3 CKD and proteinuria to determine if drinking an extra 4-6 glasses of water per day for 1 year would slow their progressive loss of kidney  function as measured by eGFR.

The main findings were that those coached to increase their water intake versus those coached to sustain their normal fluid intake suffered no ill effects from the intervention and on average were able to sustain an average increase of approximately 3 glasses of water per day. At the end of 1 year the increased hydration group had suppressed their antidiuretic hormone levels (copeptin) significantly but did not demonstrate a greater preservation in their eGFR.

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Kids with Kidney Disease Likely To Experience Lower IQ and Educational Outcomes Into Adulthood

MedicalResearch.com Interview with:

L-R: Kerry Chen, Anita van Zwieten, Madeleine Didsbury, Germaine Wong

L-R: Kerry Chen, Anita van Zwieten, Madeleine Didsbury, Germaine Wong

Dr. Kerry Chen
Centre for Kidney Research, The Kids Research Institute
The Children’s Hospital at Westmead, Sydney School of Public Health,
The University of Sydney
Sydney, New South Wales, Australia

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

Response: Chronic kidney disease is a major public health issue, with end-stage disease often requiring a combination of complex medication regimens, dialysis and/or transplant surgery. In children, the major causes of CKD are genetic and congenital. The consequences of CKD in children can be long-term and debilitating especially as they transition into adulthood, affecting their physical, intellectual and emotional well-being.

To better understand these changes, the Kids Health and Wealth Study (KCAD) is the largest longitudinal cohort study of children and adolescents with CKD in Australia and New Zealand. Spread across 5 paediatric nephrology centres so far, the KCAD Study takes a life-course approach to collecting and analysing data pertaining to the interactions between reduced renal function and associated clinical, socio-economic, quality of life, psychological, cognitive and educational outcomes in children, especially as they progress in CKD stage and also as they transition into adulthood.

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Majority of Dialysis Patients Unemployed

MedicalResearch.com Interview with:

Hemodialysis machine Wikipedia image

Hemodialysis machine
Wikipedia image

Dr. Kevin F. Erickson MD, MS
Section of Nephrology and Selzman Institute for Kidney Health
Baylor College of Medicine
Houston, TX

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

Response: An amendment to the Social Security Act passed in 1972 made it so nearly every person who develops end-stage renal disease – or ESRD – in the U.S. becomes eligible for Medicare, regardless of their age. At the time the law was passed, the bill’s supporters argued that access to life-sustaining dialysis therapy would enable patients to continue being productive members of society through work and activities at home. While the law has succeeded in providing access to dialysis therapy for many patients who would have otherwise died from kidney failure, it has been less successful at helping patients to continue working. The rate of employment among patients with ESRD who are receiving dialysis in the U.S. is low and has continued to decrease over time, despite both financial benefits from employment and evidence suggesting that patients who are employed experience improved quality of life and sense of wellbeing.

We used a national ESRD registry to examine trends in employment between 1996 and 2013 among patients starting dialysis in the U.S. and in the six months before ESRD. Our goal was to determine whether difficulties that patients face when trying to work begin even before they develop ESRD.

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Common Antidepressant Sertraline Does Not Improve Depression in Chronic Kidney Disease Patients

MedicalResearch.com Interview with:

Dr. Susan Hedayati MD University of Texas Southwestern Dallas, Texas

Dr. Hedayati

Dr. Susan Hedayati MD
Yin Quan-Yuen Distinguished Professorship in Nephrology
University of Texas Southwestern
Dallas, Texas

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

Response: We previously showed that Major Depression is associated with a significantly higher risk of death, dialysis initiation, and hospitalization among patients with Chronic Kidney Disease (CKD). Now we show that a common antidepressant medication, a selective serotonin reuptake inhibitors (SSRI), sertraline, does not improve depression in this patient population, a chronically ill group that is not only at significantly increased risk for developing depression but also its serious complications.

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Coffee – Caffeine Linked To Decreased All-Cause Mortality in Kidney Disease Patients

MedicalResearch.com Interview with:
Coffee Wikipedia imageMedicalResearch.com Interview with:
Miguel Bigotte Vieira, MD

Centro Hospitalar Lisboa Norte
Lisboa, Portugal

Response: An inverse relationship between coffee consumption and mortality has been reported in the general population. However, the association between caffeine consumption and mortality in patients with chronic kidney disease (CKD) remains unclear. We examined the association between varying levels of caffeine consumption and mortality among 2328 patients with CKD in a prospective nationwide cohort, using the continuous National Health and Nutrition Examination Survey (NHANES) 1999-2010.

A dose-dependent inverse association between caffeine and all-cause mortality was observed in patients with CKD. This association was independent of influential factors including age, gender, race, annual family income, education level, estimated GFR, albumin/creatinine ratio, hypertension, smoking status, dyslipidemia, body mass index, previous cardiovascular events and diet: consumption of alcohol, carbohydrates, polyunsaturated fatty acids and fibers.

Comparing with 1st quartile of caffeine consumption, adjusted HR for death was 0.88 (95% CI, 0.68-1.44) for 2nd quartile, 0.78 (95% CI, 0.60-1.01) for 3rd quartile and 0.76 (95% CI, 0.59-0.97) for 4th quartile (p=0.027 for trend across quartiles)

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Prevalence of Chronic Kidney Disease In US Tops 30 Million

MedicalResearch.com Interview with:

Jennifer L. Bragg-Gresham, MS, PhD Assistant Research Scientist Kidney Epidemiology and Cost Center Department of Internal Medicine - Nephrology University of Michigan Ann Arbor, MI 48109

Dr. Bragg-Gresham

Jennifer L. Bragg-Gresham, MS, PhD
Assistant Research Scientist
Kidney Epidemiology and Cost Center
Department of Internal Medicine – Nephrology
University of Michigan Ann Arbor, MI 48109 

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

Response: While a trend toward stabilization in CKD prevalence had been detected over the past decade, the most recent data from NHANES (2013-2014) suggests this trend may be ending.

MedicalResearch.com: What are the main findings?

Response: Data from 2013-2014 shows that 15.5% of the US population has reduced kidney function, up from 14.1% (2011-2012) and 12.0% (1988-1994). Over the same time period we have witnessed an increase in risk factors for CKD (age and diabetes, in particular). Adjusting for this fact accounted for much, but not all, of the increase in CKD prevalence.

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

Response: Despite this finding, we should not become complacent in our fight against kidney disease, as the absolute number of individuals with CKD has increased from approximately 19.2 million (1988-2004) to 33.6 million (2013-2014) in our latest estimates. We must continue to improve awareness and detection of early stages of CKD, as well as improve treatment for CKD risk factors.

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

Response: We must continue to improve awareness and detection of early stages of CKD, as well as improve treatment for CKD risk factors.

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

Response: Health surveillance is paramount to the success of all public health initiatives to understand current data and varied aspects of disease, which supports correct allocation of resources.

Disclosures: This poster was supported by the Supporting, Maintaining and Improving the Surveillance System for Chronic Kidney Disease in the U.S., Cooperative Agreement Number, U58 DP006254, funded by the Centers for Disease Control and Prevention. Its contents are solely the responsibility of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention or the Department of Health and Human Services.
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Citation:

Abstract presented at the Spring 2017 National Kidney Foundation Meeting
RISING CKD PREVALENCE IN THE UNITED STATES (1988-2014)

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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Association of Intensive Blood Pressure Control and Kidney Disease Progression in Nondiabetic Patients With CKD

MedicalResearch.com Interview with:
Hon-Yen Wu, MD, PhD, on behalf of all authors

Attending Physician and Assistant Professor, Division of Nephrology, Department of Internal Medicine, Far Eastern Memorial Hospital, New Taipei City, Taiwan.
Assistant Professor, Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan.
Assistant Professor, National Taiwan University Hospital and College of Medicine,
National Taiwan University, Taipei, Taiwan.
Assistant Professor, School of Medicine, National Yang-Ming University, Taipei, Taiwan. 

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

Response: The effect of intensive blood pressure (BP) control in nondiabetic patients with chronic kidney disease (CKD) has long been a topic of debate. We summarized the published information comparing intensive BP control (< 130/80 mmHg) with standard BP control (< 140/90 mmHg) on major renal outcomes in CKD patients without diabetes. We pooled data from 9 randomized clinical trials with more than 8000 patients and over 800 events of kidney disease progression. We found that targeting blood pressure below the current standard did not provide additional benefit for renal outcomes compared with standard BP control, but may benefit nonblack patients or those with heavy proteinuria.

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

Response: For the optimal blood pressure target in CKD patients without diabetes, an individually tailored treatment rather than a general rule to control hypertension is suggested.

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Non-Dialysis Chronic Kidney Disease Expenses On Par With Cancer and Stroke

MedicalResearch.com Interview with:

Talar W. Markossian PhD MPH Assistant Professor of Health Policy Loyola University Chicago 2160 S. First Ave, CTRE 554 Maywood, IL 60153

Dr. Talar Markossian

Talar W. Markossian PhD MPH
Assistant Professor of Health Policy
Loyola University Chicago
2160 S. First Ave, CTRE 554
Maywood, IL 60153

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

Response: Approximately 10% of U.S. adults currently have non-dialysis dependent chronic kidney disease (CKD), while dialysis dependent CKD accounts for only 0.5% of the U.S. population. The escalation in healthcare expenditures associated with CKD starts prior to requirement for dialysis, and treatment costs escalate as non-dialysis dependent CKD progresses.

We examined the total healthcare expenditures including out-of-pocket costs for non-dialysis dependent chronic kidney disease and compared these expenditures with those incurred for cancer and stroke in the U.S. adult population. After adjusting for demographics and comorbidities, the adjusted difference in total direct healthcare expenditures was $4746 (95% CI $1775-$7718) for CKD, $8608 (95% CI $6167-$11,049) for cancer and $5992 (95% CI $4208-$7775) for stroke vs. group without CKD, cancer or stroke. Adjusted difference in out-of-pocket healthcare expenditures was highest for adults with CKD ($760; 95% CI 0-$1745) and was larger than difference noted for cancer ($419; 95% CI 158–679) or stroke ($246; 95% CI 87–406) relative to group without CKD, cancer or stroke. Continue reading

Metformin Associated With Lower Mortality in CKD, CHF and Chronic Liver Disease

MedicalResearch.com Interview with:

Matthew J. Crowley, MD, MHS Assistant Professor of Medicine Member in the Duke Clinical Research Institute Duke University Medical Center

Dr. Matthew Crowley

Matthew J. Crowley, MD, MHS
Assistant Professor of Medicine
Member in the Duke Clinical Research Institute
Duke University Medical Center

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

Response: Although metformin is widely considered to be the first-line drug for type 2 diabetes, concerns about lactic acidosis have traditionally limited its use in some populations. However, FDA now indicates that metformin may be used safely for patients with mild-moderate chronic kidney disease and other historical contraindications like congestive heart failure. With the lactic acidosis question addressed for these groups, this review asked “what do we know about how metformin affects mortality and other outcomes for patients with historical contraindications and precautions?”

The main take-home message is that metformin appears associated with lower mortality in patients with mild-moderate chronic kidney disease, congestive heart failure, and chronic liver disease.

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Barriers to Healthful Eating Linked to More Rapid Kidney Function Decline

MedicalResearch.com Interview with:

Deidra C. Crews, MD, ScM, FASN, FACP Associate Professor of Medicine, Division of Nephrology Associate Vice Chair for Diversity and Inclusion, Department of Medicine Director, Doctoral Diversity Program Johns Hopkins University School of Medicine Baltimore MD 21224

Dr. Deidra Crews

Deidra C. Crews, MD, ScM, FASN, FACP
Associate Professor of Medicine, Division of Nephrology
Associate Vice Chair for Diversity and Inclusion, Department of Medicine
Director, Doctoral Diversity Program
Johns Hopkins University School of Medicine
Baltimore MD 21224

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

Response: Studies suggest that dietary patterns influence risk of kidney function decline. Barriers may hinder urban African Americans’ following healthful diets that could mitigate their increased risk of kidney function decline.

In this study, we characterized contextual barriers to healthful eating among urban African Africans with hypertension and examined the association of these barriers to kidney function decline over 1 year. We examined the presence of healthy foods in neighborhood stores of study participants.

We also assessed them for food insecurity (the inability to afford nutritionally adequate and safe foods), directly observed and documented the presence of fruits and vegetables in their homes, and examined their fruit and vegetable intake via questionnaire.

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Anion Gap Associated with Risk of ESRD in Adults with Moderate Chronic Kidney Disease

Tanushree Banerjee, PhD Research Specialist in the Department of Medicine Division of General Internal Medicine UCSFMedicalResearch.com Interview with:
Tanushree Banerjee, PhD
Research Specialist in the Department of Medicine
Division of General Internal Medicine
UCSF

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

Response: Acidosis is usually noted in advanced chronic kidney disease (CKD) while it is relatively unexplored whether changes in the undetermined anions, as measured by anion gap occur earlier in the course of CKD.

Consumption of animal-sourced protein is acid-inducing and therefore such diet presumably increases undetermined anions. Since higher dietary acid load is associated with progression of CKD, we wanted to explore whether the increase in undetermined anions in moderate CKD is associated with CKD progression.

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Emergency Department Use High Among CKD Patients, Primarily for Heart Failure

MedicalResearch.com Interview with:

Paul E Ronksley, PhD Assistant Professor Department of Community Health Sciences Cumming School of Medicine University of Calgary Calgary Canada

Dr. Paul E Ronksley

Paul E Ronksley, PhD
Assistant Professor
Department of Community Health Sciences
Cumming School of Medicine
University of Calgary
Calgary Canada

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

Response: Prior studies have observed high resource use among patients with chronic kidney disease (CKD), which is related to the medical complexity of this patient population. However, there has been limited exploration of how patients with CKD use the emergency department (ED) and whether utilization is associated with disease severity. While the ED is essential for providing urgent or emergent care, identifying ways of improving ED efficiency and decreasing wait times has been recognized as a priority in multiple countries. Improving coordination and management of care for patients with multiple chronic conditions (the norm for CKD) in an outpatient setting may meet health care needs and ultimately improve patient experience and outcomes while reducing the burden currently placed on the ED. However, this requires an understanding of ED use among patients with CKD and the proportion of use that is amenable to outpatient care. Using a large population-based cohort we explored how rates of ED use vary by kidney disease severity and the proportion of these events that are potentially preventable by high quality ambulatory care.

We identified all adults (≥18 years) with eGFR<60 mL/min/1.73m2 (including dialysis-dependent patients) in Alberta, Canada between April 1, 2010 and March 31, 2011. Patients with CKD were linked to administrative data to capture clinical characteristics and frequency of ED encounters, and followed until death or end of study (March 31, 2013). Within each CKD category we calculated adjusted rates of overall  emergency departmentt use, as well as rates of potentially preventable ED encounters (defined by 4 CKD-specific ambulatory care sensitive conditions (ACSCs); heart failure, hyperkalemia, volume overload, malignant hypertension).

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Patients Who Start Dialysis in Hospital Setting Have More Comorbidities

Csaba P Kovesdy MD Fred Hatch Professor of Medicine Director, Clinical Outcomes and Clinical Trials Program Division of Nephrology, University of Tennessee Health Science Center Nephrology Section Chief, Memphis VA Medical Center Memphis TN, 38163

Dr. Csaba P. Kovesdy

MedicalResearch.com Interview with:
Dr. Csaba P. Kovesdy
Fred Hatch Professor of Medicine
Director, Clinical Outcomes and Clinical Trials Program
Division of Nephrology, University of Tennessee Health Science Center
Nephrology Section Chief, Memphis VA Medical Center
Memphis TN, 38163

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

Response: Many ESRD patients initiate dialysis in an inpatient setting. This practice is expensive, and carries potential risks (e.g. hospital associated infections, medication errors, etc.). There is very little information about the characteristics of patients who transition to ESRD (i.e. start dialysis) in an inpatient setting, and about their outcomes.

We examined a cohort of >50,000 US veterans who started dialysis during 2007-2011, and found that about half of them performed their first treatment in an inpatient setting. Compared to patients starting dialysis as outpatients, those who transitioned in an inpatient setting had a significantly higher prevalence of comorbid conditions, and were much less likely to have received pre-dialysis nephrology care, or to have a mature AV fistula or AV graft at the first hemodialysis treatment. Mortality was significantly higher in the inpatient start group, but the differences were attenuated by adjustment for comorbid conditions and vascular access.

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Chronic Kidney Disease in Primary Care: Outcomes after Five Years in a Prospective Cohort Study

MedicalResearch.com Interview with:
Dr. Adam Shardlow

Derby Teaching Hospitals NHS Foundation Trust
UK

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

Response: Chronic Kidney Disease (CKD) is common in the general population, and many people are managed in primary care rather than by specialist nephrologists. This study was designed to investigate 5 year outcomes in people with mild to moderate CKD (CKD stage 3).

The main findings were that the majority of participants were stable, and progression to end stage renal disease was a rarity. Interestingly, and contrary to common thinking about CKD, we found that a significant minority no longer had evidence of CKD stage 3 at 5 years, which we have termed ‘CKD remission’.

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Equation Helps Predict Mortality In Elderly Patients With Chronic Kidney Disease

Nisha Bansal MD MAS Assistant Professor Associate Program Director for Research Kidney Research Institute Division of Nephrology University of WashingtonMedicalResearch.com Interview with:
Nisha Bansal MD MAS
Assistant Professor
Associate Program Director for Research
Kidney Research Institute Division of Nephrology
University of Washington

Medical Research: What is the background for this study? What are the main findings?

Dr. Bansal: We pursued this study to develop a prediction equation for death among elderly patients with chronic kidney disease (CKD), a high-risk patient population that is often difficult to manage given competing risks of end stage renal disease (ESRD) vs. death. In this paper, we developed and validated a simple prediction equation using variables that are readily available to all clinicians.

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Chronic Kidney Disease: Lower Blood Pressure May Equal Higher Mortality

Dr. Csaba P. Kovesdy, MD Professor of Medicine University of Tennessee Health Science Center Chief of Nephrology Memphis Veterans Affairs Medical CentMedicalResearch.com: Interview Invitation
Dr. Csaba P. Kovesdy, MD
Professor of Medicine
University of Tennessee Health Science Center
Chief of Nephrology
Memphis Veterans Affairs Medical Center

Medical Research: What are the main findings of the study?

Dr. Kovesdy: We applied the structure of a clinical trial of hypertension management to our cohort of >600,000 patients with prevalent Chronic Kidney Disease (CKD). We first identified patients with baseline uncontrolled hypertension (using the definition applied by the SPRINT trial), then isolated the ones who had a decline in their baseline systolic blood pressure to two different levels (<120 and 120-139 mmHg) in response to a concomitant increase in prescribed antihypertensives, similar to what would happen in a trial examining two different systolic blood pressure targets. We then matched patients in the two groups to end up with identical baseline characteristics, similar to a randomized trial. When we examined the all-cause mortality of these two groups, we found that the group with follow-up systolic blood pressure of <120 had a 70% higher mortality.
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Chronic Kidney Disease: Novel variants of APOL1 gene may play a role in susceptibility

MedicalResearch.com Interview with:

Dr. Wen-Ya Ko, Ph.D. Postdoctoral Fellow, First author of the paper  Department of Genetics School of Medicine University of Pennsylvania 426 Clinical Research Building 415 Curie Boulevard Philadelphia, PA 19104-6145Dr. Wen-Ya Ko, Ph.D.
Postdoctoral Fellow, First author of the paper

Department of Genetics
School of Medicine
University of Pennsylvania
426 Clinical Research Building
415 Curie Boulevard
Philadelphia, PA 19104-6145

Dr. Sarah Tishkoff, Ph.D., Senior author of the paper  David and Lyn Silfen University Professor Departments of Genetics and Biology School of Medicine School of Arts and Sciences University of PennsylvaniaDr. Sarah Tishkoff, Ph.D., Senior author of the paper

David and Lyn Silfen University Professor
Departments of Genetics and Biology
School of Medicine
School of Arts and Sciences
University of Pennsylvania

MedicalResearch.com: What are the main findings of the study?



Answer: In humans the APOL1 gene codes for Apolipoprotein L1, a major component of the trypanolytic factor in serum.  The APOL1 gene harbors two risk alleles (G1 and G2) associated with chronic kidney disease (CKD) among individuals of recent African ancestry. We studied APOL1 across genetically and geographically diverse ethnic groups in Africa. We have discovered a number of novel variants at the APOL1 functional domains that are required to lyse trypanosome parasites inside human blood vessels.

We further identified signatures of natural selection influencing the pattern of variation on chromosomes carrying some of these variants. In particular, we have identified a haplotype (a cluster of genetic variants linked along a short region of a chromosome), termed G3, that has evolved adaptively in the Fulani population who have been practicing cattle herding which has been historically documented as early as in the medieval ages (but which could have begun thousands of years earlier).  Many of the novel variants discovered in this study are candidates to play a role conferring protection against trypanosomiasis and/or to play a role in susceptibility of CKD in humans.
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