5 results on '"Williams, Adrienne H."'
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2. Evaluation ofTRAF6in a large multiancestral lupus cohort
- Author
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Namjou, Bahram, Choi, Chan-Bum, Harley, Isaac T. W., Alarcón-Riquelme, Marta E., Kelly, Jennifer A., Glenn, Stuart B., Ojwang, Joshua O., Adler, Adam, Kwangwoo Kim, Gallant, Caroline J., Boackle, Susan A., Criswell, Lindsey A., Kimberly, Robert P., Brown, Elizabeth E., Edberg, Jeffrey, Alarcón, Graciela S., Stevens, Anne M., Jacob, Chaim O., Gilkeson, Gary S., Kamen, Diane L., Tsao, Betty P., Anaya, Juan-Manuel, Kim, Eun-Mi, Park, So-Yeon, Sung, Yoon-Kyoung, Guthridge, Joel M., Merrill, Joan T., Petri, Michelle, Ramsey-Goldman, Rosalind, Vilá, Luis M., Niewold, Timothy B., Martin, Javier, Pons-Estel, Bernardo A., Vyse, Timothy J., Freedman, Barry I., Moser, Kathy L., Gaffney, Patrick M., Williams, Adrienne H., Comeau, Mary E., Reveille, John D., Kang, Changwon, James, Judith A., Scofield, R. Hal, Langefeld, Carl D., Kaufman, Kenneth M., Harley, John B., Bae, Sang-Cheol, Junker, Peter, Voss, Anne, and Laustrup, Helle
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single nucleotide ,Male ,Linkage disequilibrium ,Candidate gene ,Heredity ,Organogenesis ,Tumor necrosis factor receptor associated factor 6 ,Genome-wide association study ,Signal transduction ,Cohort Studies ,Genetic heterogeneity ,Gene Frequency ,immune system diseases ,Ethnicity ,Lupus Erythematosus, Systemic ,Immunology and Allergy ,Pharmacology (medical) ,skin and connective tissue diseases ,Priority journal ,education.field_of_study ,Calculation ,Gene linkage disequilibrium ,Female ,Human ,Immunopathogenesis ,Genotype ,Immunology ,Population ,Single-nucleotide polymorphism ,Major clinical study ,Biology ,Pedigree analysis ,Polymorphism, Single Nucleotide ,Article ,Systemic lupus erythematosus ,Rheumatology ,Population based case control study ,Humans ,Genetic Predisposition to Disease ,African american ,Rheumatoid arthritis ,Polymorphism ,education ,Alleles ,Genetic Association Studies ,Genetic association ,TNF Receptor-Associated Factor 6 ,Lupus erythematosus ,Immunity ,Case-control study ,Odds ratio ,systemic ,Thrombocytopenia ,Single nucleotide polymorphism ,Haplotypes ,Case-Control Studies ,Meta analysis (topic) ,Controlled study - Abstract
Objective Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with significant immune system aberrations resulting from complex heritable genetics as well as environmental factors. We undertook to study the role of TRAF6 as a candidate gene for SLE, since it plays a major role in several signaling pathways that are important for immunity and organ development. Methods Fifteen single-nucleotide polymorphisms (SNPs) across TRAF6 were evaluated in 7,490 SLE patients and 6,780 control subjects from different ancestries. Population-based case-control association analyses and meta-analyses were performed. P values, false discovery rate q values, and odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated. Results Evidence of associations was detected in multiple SNPs. The best overall P values were obtained for SNPs rs5030437 and rs4755453 (P = 7.85 × 10 -5 and P = 4.73 × 10 -5, respectively) without significant heterogeneity among populations (P = 0.67 and P = 0.50, respectively, in Q statistic). In addition, SNP rs540386, which was previously reported to be associated with rheumatoid arthritis (RA), was found to be in linkage disequilibrium with these 2 SNPs (r 2 = 0.95) and demonstrated evidence of association with SLE in the same direction (meta-analysis P = 9.15 × 10 -4, OR 0.89 [95% CI 0.83-0.95]). The presence of thrombocytopenia improved the overall results in different populations (meta-analysis P = 1.99 × 10 -6, OR 0.57 [95% CI 0.45-0.72], for rs5030470). Finally, evidence of family-based association in 34 African American pedigrees with the presence of thrombocytopenia was detected in 1 available SNP (rs5030437) with a Z score magnitude of 2.28 (P = 0.02) under a dominant model. Conclusion Our data indicate the presence of association of TRAF6 with SLE, consistent with the previous report of association with RA. These data provide further support for the involvement of TRAF6 in the pathogenesis of autoimmunity. Copyright © 2012 by the American College of Rheumatology.
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- 2012
3. Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus
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Ramos, Paula S., primary, Williams, Adrienne H., additional, Ziegler, Julie T., additional, Comeau, Mary E., additional, Guy, Richard T., additional, Lessard, Christopher J., additional, Li, He, additional, Edberg, Jeffrey C., additional, Zidovetzki, Raphael, additional, Criswell, Lindsey A., additional, Gaffney, Patrick M., additional, Graham, Deborah Cunninghame, additional, Graham, Robert R., additional, Kelly, Jennifer A., additional, Kaufman, Kenneth M., additional, Brown, Elizabeth E., additional, Alarcón, Graciela S., additional, Petri, Michelle A., additional, Reveille, John D., additional, McGwin, Gerald, additional, Vilá, Luis M., additional, Ramsey-Goldman, Rosalind, additional, Jacob, Chaim O., additional, Vyse, Timothy J., additional, Tsao, Betty P., additional, Harley, John B., additional, Kimberly, Robert P., additional, Alarcón-Riquelme, Marta E., additional, Langefeld, Carl D., additional, and Moser, Kathy L., additional
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- 2011
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4. Association of Proopiomelanocortin Gene Polymorphisms with Obesity in the IRAS Family Study
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Sutton, Beth S., primary, Langefeld, Carl D., additional, Williams, Adrienne H., additional, Norris, Jill M., additional, Saad, Mohammed F., additional, Haffner, Steven M., additional, and Bowden, Donald W., additional
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- 2005
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5. End-stage renal disease in African Americans with lupus nephritis is associated with APOL1.
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Freedman BI, Langefeld CD, Andringa KK, Croker JA, Williams AH, Garner NE, Birmingham DJ, Hebert LA, Hicks PJ, Segal MS, Edberg JC, Brown EE, Alarcón GS, Costenbader KH, Comeau ME, Criswell LA, Harley JB, James JA, Kamen DL, Lim SS, Merrill JT, Sivils KL, Niewold TB, Patel NM, Petri M, Ramsey-Goldman R, Reveille JD, Salmon JE, Tsao BP, Gibson KL, Byers JR, Vinnikova AK, Lea JP, Julian BA, and Kimberly RP
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- Adult, Alleles, Apolipoprotein L1, Female, Genetic Predisposition to Disease genetics, Genotype, Humans, Kidney Failure, Chronic epidemiology, Logistic Models, Lupus Nephritis complications, Male, Middle Aged, Risk Factors, White People genetics, Black or African American genetics, Apolipoproteins genetics, Disease Progression, Kidney Failure, Chronic genetics, Lipoproteins, HDL genetics, Lupus Nephritis genetics
- Abstract
Objective: Lupus nephritis (LN) is a severe manifestation of systemic lupus erythematosus (SLE) that exhibits familial aggregation and may progress to end-stage renal disease (ESRD). LN is more prevalent among African Americans than among European Americans. This study was undertaken to investigate the hypothesis that the apolipoprotein L1 gene (APOL1) nephropathy risk alleles G1/G2, common in African Americans and rare in European Americans, contribute to the ethnic disparity in risk., Methods: APOL1 G1 and G2 nephropathy alleles were genotyped in 855 African American SLE patients with LN-ESRD (cases) and 534 African American SLE patients without nephropathy (controls) and tested for association under a recessive genetic model, by logistic regression., Results: Ninety percent of the SLE patients were female. The mean ± SD age at SLE diagnosis was significantly lower in LN-ESRD cases than in SLE non-nephropathy controls (27.3 ± 10.9 years versus 39.5 ± 12.2 years). The mean ± SD time from SLE diagnosis to development of LN-ESRD in cases was 7.3 ± 7.2 years. The G1/G2 risk alleles were strongly associated with SLE-ESRD, with 25% of cases and 12% of controls having 2 nephropathy alleles (odds ratio [OR] 2.57, recessive model P = 1.49 × 10(-9)), and after adjustment for age, sex, and ancestry admixture (OR 2.72, P = 6.23 × 10(-6)). The age-, sex-, and admixture-adjusted population attributable risk for ESRD among patients with G1/G2 polymorphisms was 0.26, compared to 0.003 among European American patients. The mean time from SLE diagnosis to ESRD development was ∼2 years earlier among individuals with APOL1 risk genotypes (P = 0.01)., Conclusion: APOL1 G1/G2 alleles strongly impact the risk of LN-ESRD in African Americans, as well as the time to progression to ESRD. The high frequency of these alleles in African Americans with near absence in European Americans explains an important proportion of the increased risk of LN-ESRD in African Americans., (Copyright © 2014 by the American College of Rheumatology.)
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- 2014
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