A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population

作者：Park Hansoo; Kim Hyun Jin; Lee Seungbok; Yoo Yun Joo; Ju Young Seok; Lee Jung Eun; Cho Sung Il; Sung Joohon; Kim Jong Il; Seo Jeong Sun^*

来源：Kidney International, 2013, 83(2): 285-292.

DOI：10.1038/ki.2012.389

• family-based association test
• genome-wide linkage study
• isolated Mongolian population
• renal function

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 x 10(-9) and 2.47 x 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. Kidney International (2013) 83, 285-292; doi:10.1038/ki.2012.389; published online 19 December 2012

• 出版日期2013-2