Genome-wide association study identifies new susceptibility loci for diabetic nephropathy in Korean patients with type 2 diabetes mellitus

被引：10

作者：

Jeong, Kyung H. ^{[1
]}

Kim, Jin S. ^{[1
]}

Woo, Jeong-Taek ^{[2
]}

Rhee, Sang Y. ^{[2
]}

Lee, Yu H. ^{[1
]}

Kim, Yang G. ^{[1
]}

Moon, Ju-Young ^{[1
]}

Kim, Su K. ^{[3
]}

Kang, Sun W. ^{[4
]}

Lee, Sang H. ^{[1
]}

Kim, Yeong H. ^{[4
]}

机构：

[1] Kyung Hee Univ, Sch Med, Dept Internal Med, Div Nephrol, 26 Kyungheedae Ro, Seoul, South Korea

[2] Kyung Hee Univ, Sch Med, Dept Internal Med, Div Endocrinol & Metab, Seoul, South Korea

[3] Catholic Kwandong Univ, Dept Biomed Lab Sci, Kangnung, South Korea

[4] Inje Univ, Sch Med, Div Nephrol, Busan, South Korea

来源：

CLINICAL GENETICS | 2019年 / 96卷 / 01期

基金：

新加坡国家研究基金会;

关键词：

diabetic nephropathy; genome-wide association study; susceptibility loci; type 2 diabetes mellitus; STAGE RENAL-DISEASE; POLYMORPHISM; GENE; BONFERRONI; VARIANTS; 3-KINASE;

D O I：

10.1111/cge.13538

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genetic factors are considered to be important in the pathogenesis of diabetic nephropathy (DN). Despite several genome-wide association studies (GWASs) demonstrating that specific polymorphisms of candidate genes were associated with DN, there were some limitations in previous studies. We conducted a GWAS using customized DNA chips to identify novel susceptibility loci for DN in Korean. We analyzed a total of 414 DN cases and 474 normoalbuminuric diabetic hyper-controls across two stages using customized DNA chips containing 98 667 single nucleotide polymorphisms (SNPs). We explored the associations between SNPs and DN in samples from 87 DN cases, mostly confirmed by renal biopsy, and 104 diabetic hyper-controls, and replicated these associations in independent cohort samples with 327 DN cases and 370 diabetic hyper-controls. The top significant SNPs from the discovery samples were selected for replication in the independent cohort. rs3765156 in PIK3C2B was significantly associated with DN in the replication cohort after multiple test. The SNPs identified in our study provide new insights into the pathogenesis of DN in the Korean population. Additional studies are needed to determine biological effects and clinical utility of our findings.

引用

页码：35 / 42

页数：8

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