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DEFA gene variants associated with IgA nephropathy in a Chinese population
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
2015-04-01
DOI10.1038/gene.2015.1
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
WOS记录号WOS:000353395400008
项目编号81200524 ; 20120001120008 ; 2012CB517700 ; 20121000110 ; 81321064
资助机构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
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/65094
专题北京大学第一临床医学院_肾脏内科
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
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GB/T 7714
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.
APA Qi, Y. Y..,Zhou, X. J..,Cheng, F. J..,Hou, P..,Zhu, L..,...&Zhang, H..(2015).DEFA gene variants associated with IgA nephropathy in a Chinese population.GENES AND IMMUNITY,16(3),231-237.
MLA Qi, Y. Y.,et al."DEFA gene variants associated with IgA nephropathy in a Chinese population".GENES AND IMMUNITY 16.3(2015):231-237.
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