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Updated: Sep 25, 2025

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
A Genome-Wide Association Study on Abdominal Adiposity-Related Traits in Adult Korean Men
Hyun-Jin Kim1, Ho-Young Son2, Joohon Sung3
1National Cancer Control Institute, National Cancer Center, Goyang, Republic of Korea.
Introduction:
Although previous genome-wide association studies (GWASs) have identified genetic susceptibility loci for abdominal adiposity, GWASs on Asian samples remain scarce. Therefore, we performed a GWAS for abdominal adipose tissue depots in a Korean population.
Methods:
A total of 1,937 Korean men were included in the study. Areas of abdominal fat were quantified by computed tomography. We performed a GWAS analysis under an additive model, and a replication study was conducted on 480 additional Korean adult men.
Results:
In the discovery step, we identified a total of 10 single-nucleotide polymorphisms (SNPs) associated with adiposity indicators (p < 1 × 10-5). The top SNP, rs1028014, for visceral adipose tissue (VAT) was located in the ZMAT4 gene and remained significant after adjustment for body mass index (BMI). Three additional SNPs were also associated with VAT-adj-BMI and located within the SLC26A10, FAM155A, and COL4A1-COL4A2 genes, respectively. In addition, we identified a SNP (rs4668224) of the MYO3B gene for visceral-to-subcutaneous fat ratio. For subcutaneous adipose tissue and total adipose tissue, two (rs6585735 and rs363527) and three SNPs (rs1487892, rs9357565, and rs1985358) were found, respectively. Overall, eight SNPs were used in the replication study; however, none of the SNPs reached our level of significance for replication (p < 0.0063). Nevertheless, rs4773144 of COL4A1-COL4A2 for VAT-adj-BMI was the most interesting SNP identified in previous GWASs for coronary artery disease (based on the same risk allele "G"), along with functional effects.
Conclusion:
This study suggests for the first time that an SNP (rs4773144) of COL4A1-COL4A2 may contribute to the increase in VAT level, especially in adult Korean men.
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