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.
Highlights
Human anthropometric traits, including height, body mass index (BMI), and fat distribution, differ substantially according to gender and genetic factors
We found nine novel singlenucleotide polymorphisms (SNPs) that had not been reported previously, which were associated with height in females, and 59 independent genetic signals in genomic regions that had been reported previously
Chromosomes 6 and 12 at the genes RP11-513I15.6 and RP11977G19.10 were identified, and eight genetic variants were found in RP11-513I15.6 (Table 2)
Summary
Human anthropometric traits, including height, body mass index (BMI), and fat distribution, differ substantially according to gender and genetic factors. Height, which has been associated with multiple diseases, is highly representative of the heritable phenotypic trait (Akiyama et al, 2019). Anthropometric traits related to obesity such as body size and composition are highly associated with metabolic syndrome (Wen et al, 2016). Anthropometry is occasionally considered the traditional and basic tool of biological anthropology. It plays an essential role in forensic science (Krishan, 2006; Thamizhselvi and Geetha, 2019).
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