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논문분류	춘계학술대회 초록집
제목	Genome-Wide association study (GWAS) identifies new susceptible loci of IgA nephropathy in Korea
저자	Kyung Hwan Jeong* 1, Sang Ho Lee1, Chun Gyoo Ihm1, Sun Woo Kang2, Tae Won Lee1, Yang Gyoon Kim1, Tae Hee Kim2, Jin Suk Kim1, Yeong Hoon Kim2
출판정보	2016; 2016(1):
키워드	GWAS, IgA nephropathy
초록	Background: IgA nephropathy (IgAN) is the most common form of glomerulonephritis and is an important cause of end stage renal disease in Korea. Recent observations suggest that there is a significant genetic contribution to the pathogenesis of IgAN. However, the results from genetic association studies of candidate genes are inconsistent. Methods: We performed a two-stage genome-wide association study of IgAN in Korean patients, with 182 cases and 455 healthy controls in the discovery phase and validation of the top 32 SNPs in an additional 310 cases and 438 healthy controls. We selected 378,707 SNPs in exon and promoter region for GWAS as following criteria; (1) SNPs with > 10% minor allele frequency (MAF), (2) >0.1 heterozygosity, (3) known genotype frequencies of SNPs in Asian population, (4) SNPs studied in previous study, and (5) unknown SNPs. Logistic regression models were performed to determine odds ratio (OR), 95% confidence interval (CI), and P value. The analysis was using Helix tree program. Results: Among 378,707 SNPs, 32 SNPs showed strongly significant association with IgAN (p<0.0005). We genotyped the top 32 SNPs in validation cohort (310 IgAN patients and 438 healthy controls). A strong SNP association signal was observed in 6 SNPs of five gene loci. We identified at rs3750656 and rs2296136 that implicated the genes encoding ankyrin repeat domain 16 (ANKRD16) as susceptible gene. The rs704298 of eukaryotic translation initiation factor 4E family member 3 (EIF4E3), rs144266749 of keratin associated protein 5-2 (KRTAP5-2), rs2274033 of F-box protein, helicase, 18 (FBXO18) and rs76337191 of ZIC5 (Zic family member 5) were also identified susceptible loci of IgAN patients. Conclusion: Several susceptible genetic loci suggest that these significant SNPs may be useful to investigate the pathogenesis of IgAN.
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