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学科主题: 临床医学
题名:
DEFA gene variants associated with IgA nephropathy in a Chinese population
作者: Qi, Y. Y.1,2,3,4; Zhou, X. J.1,2,3,4; Cheng, F. J.1,2,3,4; Hou, P.1,2,3,4; Zhu, L.1,2,3,4; Shi, S. F.1,2,3,4; Liu, L. J.1,2,3,4; Lv, J. C.1,2,3,4; Zhang, H.1,2,3,4
刊名: GENES AND IMMUNITY
发表日期: 2015-04-01
DOI: 10.1038/gene.2015.1
卷: 16, 期:3, 页:231-237
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity ; Immunology
研究领域[WOS]: Genetics & Heredity ; Immunology
关键词[WOS]: SYSTEMIC-LUPUS-ERYTHEMATOSUS ; COPY-NUMBER VARIATION ; GENOME-WIDE ASSOCIATION ; SUSCEPTIBILITY LOCI ; DISEASE ; DEFENSINS ; IMMUNITY ; SLE
英文摘要:

IgA nephropathy (IgAN) is a complex syndrome with high genetic heterogeneity. More recently, a genome-wide association study (GWAS) from Southern Han population revealed that variants within 8p23.1, where the DEFA genes encoding a-defensins assembled, were associated with susceptibility to IgAN. To replicate the association and fine-map the genetic variants, a case-control genetic study from an independent Northern Han cohort was conducted. A total of 60 single-nucleotide polymorphisms in a region spanning 350 kb encompassing the DEFA genes cluster were analyzed in 2096 individuals. Copy number variations of DEFA1A3 within the loci were also checked for the independent association. Functional significance of the associated variants was further examined by the in silico method as well as by cis-acting expression quantitative trait loci analysis with mRNA. It showed that 17 out of 60 (28.3%) variants were associated with susceptibility to IgAN. Two independent signals with functional potentials were discovered (rs2738058, P = 4.64 x 10(-5), odds ratio (OR) = 0.76, 95% confidence interval (CI) 0.66-0.87 and rs9644778, P = 4.78 x 10(-3), OR = 1.21, 95% CI 1.06-1.39). Besides, marginally significant association of rs9644778 risk genotype with lower proportion of gross hematuria (CC+CA vs AA 35.2% vs 30.2%, P = 0.073) was observed. In conclusion, DEFA gene polymorphisms have potentially pathogenic roles in IgAN, and the role of mucosal immunity in the pathogenesis of IgAN has to be emphasized.

语种: 英语
所属项目编号: 81200524 ; 20120001120008 ; 2012CB517700 ; 20121000110 ; 81321064
项目资助者: National Natural Science Foundation of China ; Foundation of Ministry of Education of China ; Major State Basic Research Development Program of China (973 program) ; Research Fund of Beijing Municipal Science and Technology for the Outstanding PhD Program ; Natural Science Fund of China
WOS记录号: WOS:000353395400008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65094
Appears in Collections:北京大学第一临床医学院_肾脏内科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Div Renal, Beijing 100034, Peoples R China
2.Peking Univ, Inst Nephrol, Beijing 100034, Peoples R China
3.Minist Hlth China, Key Lab Renal Dis, Beijing, Peoples R China
4.Peking Univ, Minist Educ, Key Lab Chron Kidney Dis Prevent & Treatment, Beijing 100034, Peoples R China

Recommended Citation:
Qi, Y. Y.,Zhou, X. J.,Cheng, F. J.,et al. DEFA gene variants associated with IgA nephropathy in a Chinese population[J]. GENES AND IMMUNITY,2015,16(3):231-237.
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