Genomes and Genes
Cheryl A Winkler
Affiliation: National Institutes of Health
- Admixture mapping comes of ageCheryl A Winkler
Basic Science Program, SAIC Frederick, Inc, Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, MD 21702, USA
Annu Rev Genomics Hum Genet 11:65-89. 2010..Here, we provide a historical perspective, review AIM panels and software packages, and discuss recent successes and unexpected insights into human diseases that exhibit disparate rates across human populations...
- Worldwide distribution of the MYH9 kidney disease susceptibility alleles and haplotypes: evidence of historical selection in AfricaTaras K Oleksyk
Department of Biology, University of Puerto Rico at Mayaguez, Mayaguez, Puerto Rico
PLoS ONE 5:e11474. 2010..The population-specific divergence in MYH9 risk allele frequencies among the world's populations may prove important in risk assessment and public health policies to mitigate the burden of kidney disease in vulnerable populations...
- Evidence for selection at HIV host susceptibility genes in a West Central African human populationKai Zhao
Department of Animal Sciences, University of Illinois at Urbana Champaign, Urbana, IL 61801, USA
BMC Evol Biol 12:237. 2012....
- Is there a genetic basis for health disparities in human immunodeficiency virus disease?Cheryl Winkler
Laboratory of Genomic Diversity, National Cancer Institute at Frederick, Frederick, MD, USA
Mt Sinai J Med 77:149-59. 2010....
- The effect of RANTES chemokine genetic variants on early HIV-1 plasma RNA among African American injection drug usersPriya Duggal
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
J Acquir Immune Defic Syndr 38:584-9. 2005..Because RANTES is a critical chemokine and competitively inhibits HIV-1 by binding to its receptor CCR5, treatment to enhance RANTES expression may assist in delaying the progression of AIDS by decreasing the initial viral load...
- Regulatory polymorphisms in the cyclophilin A gene, PPIA, accelerate progression to AIDSPing An
Laboratory of Genomic Diversity, Science Applications International Corporation Frederick, National Cancer Institute Frederick, Frederick, Maryland, United States of America
PLoS Pathog 3:e88. 2007..These results implicate regulatory PPIA polymorphisms as a component of genetic susceptibility to HIV-1 infection or disease progression, affirming the important role of PPIA in HIV-1 pathogenesis...
- Polymorphisms of CUL5 are associated with CD4+ T cell loss in HIV-1 infected individualsPing An
Laboratory of Genomic Diversity, SAIC Frederick, Incorporated, National Cancer Institute, Frederick, Maryland, United States of America
PLoS Genet 3:e19. 2007....
- Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15George W Nelson
Laboratory of Genomic Diversity, SAIC Frederick, Inc, NCI Frederick, Frederick, MD, USA
Hum Mol Genet 19:1805-15. 2010..Rs5750250 combined with rs11912763 had receiver operator characteristic (ROC) C statistics of 0.80, 0.73 and 0.65 for HIVAN, FSGS and H-ESKD, respectively, allowing prediction of genetic risk by typing two SNPs...
- APOBEC3B deletion and risk of HIV-1 acquisitionPing An
Laboratory of Genomic Diversity, SAIC Frederick, National Cancer Institute Frederick, Frederick, MD 21702, USA
J Infect Dis 200:1054-8. 2009..01; P=. 03), and viral set point (P= .04). These findings suggest that the loss of APOBEC3B may increase host susceptibility to HIV-1 acquisition and progression to AIDS and warrant further study...
- Regulatory polymorphisms in the interleukin-18 promoter are associated with hepatitis C virus clearancePing An
Laboratory of Genomic Diversity, Science Applications International Corportation Frederick, MD, USA
J Infect Dis 198:1159-65. 2008..77-11.6]) was also strongly associated with viral clearance. No association was found among those with hemophilia. These results suggest that IL18 promoter polymorphism may affect the outcome of HCV infection in certain groups...
- Dominant effects of CCR2-CCR5 haplotypes in HIV-1 disease progressionCheryl A Winkler
Laboratory of Genomic Diversity, Division of Basic Research, SAIC Frederick, NCI, Frederick, MD, USA
J Acquir Immune Defic Syndr 37:1534-8. 2004....
- Genome-wide association study implicates PARD3B-based AIDS restrictionJennifer L Troyer
Laboratory of Genomic Diversity, SAIC Frederick, Inc, Frederick, MD 21702, USA
J Infect Dis 203:1491-502. 2011..Here we used clinically well-characterized subjects from 5 pretreatment HIV/AIDS cohorts for a genome-wide association study to identify gene associations with rate of AIDS progression...
- Role of exonic variation in chemokine receptor genes on AIDS: CCRL2 F167Y association with pneumocystis pneumoniaPing An
Basic Research Laboratory, SAIC Frederick, National Cancer Institute Frederick, Frederick, Maryland, USA
PLoS Genet 7:e1002328. 2011..28-6.31) among four major AIDS-defining conditions. Considering the newly defined role of CCRL2 in lung dendritic cell trafficking, this atypical chemokine receptor may affect PCP through immune regulation and inducing inflammation...
- APOBEC3G genetic variants and their influence on the progression to AIDSPing An
Basic Research Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, Frederick, MD 21702, USA
J Virol 78:11070-6. 2004..These studies suggest that there may be a modifying role of variants of APOBEC3G on HIV-1 disease progression that warrants further investigation...
- Evaluation of nonviral risk factors for nasopharyngeal carcinoma in a high-risk population of Southern ChinaXiuchan Guo
Laboratory of Genomic Diversity, SAIC Frederick, Inc, NCI Frederick, Frederick, MD 21702, USA
Int J Cancer 124:2942-7. 2009..7% of NPC development in NPC high risk population. These findings should have important public health implications for NPC risk reduction in endemic regions...
- A tumor necrosis factor-alpha-inducible promoter variant of interferon-gamma accelerates CD4+ T cell depletion in human immunodeficiency virus-1-infected individualsPing An
Basic Research Program, SAIC Frederick, Inc, National Cancer Institute, Frederick, MD 21702, USA
J Infect Dis 188:228-31. 2003..It is possible that increased IFN-gamma production induced by TNF-alpha when -179T is present causes CD4 cell depletion by apoptosis...
- Accounting for multiple comparisons in a genome-wide association study (GWAS)Randall C Johnson
Basic Research Program, SAIC Frederick, Inc NCI Frederick, Frederick, MD, USA
BMC Genomics 11:724. 2010..We consider seven implementations of these commonly used methods using data from 1514 European American participants genotyped for 700,078 SNPs in a GWAS for AIDS...
- Genetic factors leading to chronic Epstein-Barr virus infection and nasopharyngeal carcinoma in South East China: study design, methods and feasibilityXiu Chan Guo
Laboratory of Genomic Diversity, SAIC Frederick, National Cancer Institute Frederick, Frederick, MD 21702, USA
Hum Genomics 2:365-75. 2006....
- A population-based study to investigate host genetic factors associated with hepatitis B infection and pathogenesis in the Chinese populationZheng Zeng
SAIC Laboratory of Genomic Diversity, National Cancer Institute Frederick, National Institutes of Health, Frederick, USA
BMC Infect Dis 8:1. 2008..We believe that a better understanding of these factors and interactions will lead to more effective diagnostic and therapeutic options...
- A high-density admixture map for disease gene discovery in african americansMichael W Smith
Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD, USA
Am J Hum Genet 74:1001-13. 2004..The map is especially appropriate for those diseases that differ in incidence between the parental African and European populations...
- NPHS2 variation in sporadic focal segmental glomerulosclerosisLouise M McKenzie
Laboratory of Genomic Diversity, SAIC Frederick, National Cancer Institute, NCI Frederick, Frederick, Maryland, USA
J Am Soc Nephrol 18:2987-95. 2007..5, P = 0.001). These results indicate that genetic variation or mutation of NPHS2 may play a role in late-onset sporadic FSGS...
- MYH9 genetic variants associated with glomerular disease: what is the role for genetic testing?Jeffrey B Kopp
Kidney Disease Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1268, USA
Semin Nephrol 30:409-17. 2010..Such studies will address critical questions pertaining to MYH9-associated kidney disease, including mechanism, course, and response to therapy...
- Identifying host targets for drug development with knowledge from genome-wide studies: lessons from HIV-AIDSCheryl A Winkler
Laboratory of Genomic Diversity, CCR, NCI, SAIC Frederick, Frederick, MD 21702, USA
Cell Host Microbe 3:203-5. 2008..A major goal of these studies is to understand how human genetic variation contributes to individual differences in susceptibility and to exploit this knowledge for targeted drug development...
- APOL1 kidney risk alleles: population genetics and disease associationsSophie Limou
Basic Science Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Leidos Biomedical Research Inc, Frederick National Laboratory, Frederick, MD and Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD
Adv Chronic Kidney Dis 21:426-33. 2014..We also summarize the proper way to run a recessive analysis on joint and independent effects of APOL1 G1 and G2 kidney risk variants. ..
- Genetics of focal segmental glomerulosclerosis and human immunodeficiency virus-associated collapsing glomerulopathy: the role of MYH9 genetic variationCheryl A Winkler
Scientific Applications International Corporation Frederick, Inc, Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute Frederick, National Institutes of Health, Frederick, MD, USA
Semin Nephrol 30:111-25. 2010..The strong predicted power of MYH9 variation for disease indicates a clear role for genetic testing for these variants in personalized medicine, for assessment of genetic risk, and potentially for diagnosis...
- Modulating influence on HIV/AIDS by interacting RANTES gene variantsPing An
Intramural Research Support Program, SAIC Frederick, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA
Proc Natl Acad Sci U S A 99:10002-7. 2002..The diminished transcription of RANTES afforded by the In1.1C regulatory allele is consistent with increased HIV-1 spread in vivo, leading to accelerated progression to AIDS...
- ALDsuite: Dense marker MALD using principal components of ancestral linkage disequilibriumRandall C Johnson
BSP CCR Genetics Core, Leidos Biomedical Research, Inc, Frederick National Laboratory, Frederick, MD, 21702, USA
BMC Genet 16:23. 2015..There are currently no software solutions that offer both local ancestry inference using dense marker data and disease association statistics...
- Host genes associated with HIV/AIDS: advances in gene discoveryPing An
Laboratory of Genomic Diversity, SAIC Frederick, Inc, National Cancer Institute at Frederick, Frederick, MD 21702, USA
Trends Genet 26:119-31. 2010..Multidisciplinary approaches integrating genetic epidemiology to systems biology will be required to fully understand virus-host interactions to effectively combat HIV/AIDS...
- HIV-associated nephropathy patients with and without apolipoprotein L1 gene variants have similar clinical and pathological characteristicsMohamed G Atta
Department of Medicine, Johns Hopkins Medical Center, Baltimore, MD 21205, USA
Kidney Int 82:338-43. 2012....