Genome-wide association study identifies new loci for albuminuria in the Japanese population

CLINICAL AND EXPERIMENTAL NEPHROLOGY(2020)

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摘要
Background Urinary albumin excretion (UAE) is a risk factor for cardiovascular diseases, metabolic syndrome, chronic kidney disease, etc. Only a few genome-wide association studies (GWAS) for UAE have been conducted in the European population, but not in the Asian population. Here we conducted GWAS and identified several candidate genes harboring single nucleotide polymorphisms (SNPs) responsible for UAE in the Japanese population. Methods We conducted GWAS for UAE in 7805 individuals of Asian ancestry from health-survey data collected by Tohoku Medical Megabank Organization (ToMMo) and Iwate Tohoku Medical Megabank Organization (IMM). The SNP genotype data were obtained with a SNP microarray. After imputation using a haplotype panel consisting of 2000 genome sequencing, 4,962,728 SNP markers were used for the GWAS. Results Eighteen SNPs at 14 loci ( GRM7 , EXOC1 / NMU , LPA , STEAP1B / RAPGEF5 , SEMA3D , PRKAG2 , TRIQK , SERTM1 , TPT1-AS1 , OR5AU1 , TSHR , FMN1 / RYR3 , COPRS, and BRD1 ) were associated with UAE in the Japanese individuals. A locus with particularly strong associations was observed on TSHR , chromosome 14 [rs116622332 ( p = 3.99 × 10 −10 )]. Conclusion In this study, we successfully identified UAE-associated variant loci in the Japanese population. Further study is required to confirm this association.
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关键词
QTL,GWAS,Albuminuria,Genetics,TSHR,Cohort study
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