A Genome-Wide Association Study of Novel Genetic Variants Associated With Anthropometric Traits in Koreans

Abstract

Most previous genome-wide association studies (GWAS) have identified genetic variants associated with anthropometric traits. However, most of the evidence were reported in European populations. Anthropometric traits such as height and body fat distribution are significantly affected by gender and genetic factors. Here we performed GWAS involving 64,193 Koreans to identify the genetic factors associated with anthropometric phenotypes including height, weight, body mass index, waist circumference, hip circumference, and waist-to-hip ratio. We found nine novel single-nucleotide polymorphisms (SNPs) and 59 independent genetic signals in genomic regions that were reported previously. Of the 19 SNPs reported previously, eight genetic variants at RP11-513I15.6 and one genetic variant at the RP11-977G19.10 region and six Asian-specific genetic variants were newly found. We compared our findings with those of previous studies in other populations. Five overlapping genetic regions (PAN2, ANKRD52, RNF41, HGMA1, and C6orf106) had been reported previously but none of the SNPs were independently identified in the current study. Seven of the nine newly found novel loci associated with height in women revealed a statistically significant skeletal expression of quantitative trait loci. Our study provides additional insight into the genetic effects of anthropometric phenotypes in East Asians.

Associations of genome-wide structural variations with phenotypic differences in cross-bred Eurasian pigs

“…A SINE insertion upstream of ILRUN is also one of the most significant loci (Fig. S11B and Table S9), and this gene has been frequently reported to be associated with human height [ 68 – 71 ] as well as carcass length, body length, and cannon circumference in pigs [ 72 , 73 ]. A DEL was identified in the intron region of TFEB (Fig.…”

Genetic architecture of adiposity measures among Asians: Findings from GWAS

“…With the aim of identifying height‐related loci in Korean population, Cho et al. (2021) performed GWAS on 5472 Korean ancestry adults in the discovery stage and 56,892 Korean ancestry adults in the replication stage. A total of 68 hits at 14 distinct loci were observed from combined analysis of discovery and replication stage.…”

“…In addition to establishing several novel loci for height, Cho et al. (2021), also identified 21 variants that were associated with weight in men. Fifteen variants at HMGA1 , C6orf106 , and GRM4 were identified at genome‐wide significance.…”

“…In 2021, variant at CUX2 was also reported to be at genome‐wide significance for WHR in Korean men (Cho et al., 2021). There were other genes, PTPN11, ALDH2, BRAP , and ACAD10 , that have been previously reported for other traits and that were found to be associated with WHR in Korean men in this study.…”

Genetic mapping of multiple metabolic traits identifies novel genes for adiposity, lipids and insulin secretory capacity in outbred rats

“…Ilrun was previously named LOC294154 in rats and C6orf106 in humans. C6orf106 associates with anthropometric traits including height [50], weight [51], BMI [52], body fat ratio [53] in humans and might drive persistent thinness versus severe obesity [54]. The mouse ortholog is implicated in lipid metabolism and hepatic lipoprotein production [55], making this a highly attractive candidate at this locus.…”