title: A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population.
abstract: The estimated glomerular filtration rate is a well-known measure of renal function and is widely used to follow the course of disease. Although there have been several investigations establishing the genetic background contributing to renal function, Asian populations have rarely been used in these genome-wide studies. Here, we aimed to find candidate genetic determinants of renal function in 1007 individuals from 73 extended families of Mongolian origin. Linkage analysis found two suggestive regions near 9q21 (logarithm of odds (LOD) 2.82) and 15q15 (LOD 2.70). The subsequent family-based association study found 2 and 10 significant single-nucleotide polymorphisms (SNPs) in each region, respectively. The strongest SNPs on chromosome 9 and 15 were rs17400257 and rs1153831 with P-values of 7.21 × 10(-9) and 2.47 × 10(-11), respectively. Genes located near these SNPs are considered candidates for determining renal function and include FRMD3, GATM, and SPATA5L1. Thus, we identified possible loci that determine renal function in an isolated Asian population. Consistent with previous reports, our study found genes linked and associated with renal function in other populations.
authors.affiliation: Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Republic of Korea.
authors.forename: Hansoo
authors.initials: H
authors.lastname: Park
authors.forename: Hyun-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Seungbok
authors.initials: S
authors.lastname: Lee
authors.forename: Yun Joo
authors.initials: YJ
authors.lastname: Yoo
authors.forename: Young Seok
authors.initials: YS
authors.lastname: Ju
authors.forename: Jung Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Sung-Il
authors.initials: SI
authors.lastname: Cho
authors.forename: Joohon
authors.initials: J
authors.lastname: Sung
authors.forename: Jong-Il
authors.initials: JI
authors.lastname: Kim
authors.forename: Jeong-Sun
authors.initials: JS
authors.lastname: Seo
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D005919:Glomerular Filtration Rate / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C562024:FRMD3 protein, human; D025521:Tumor Suppressor Proteins