Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population

Hum Genomics. 2018 Nov 1;12(1):48. doi: 10.1186/s40246-018-0180-4.

Abstract

Background: Metabolic syndrome is a risk factor for type 2 diabetes and cardiovascular disease. We identified common genetic variants that alter the risk for metabolic syndrome in the Korean population. To isolate these variants, we conducted a multiple-genotype and multiple-phenotype genome-wide association analysis using the family-based quasi-likelihood score (MFQLS) test. For this analysis, we used 7211 and 2838 genotyped study subjects for discovery and replication, respectively. We also performed a multiple-genotype and multiple-phenotype analysis of a gene-based single-nucleotide polymorphism (SNP) set.

Results: We found an association between metabolic syndrome and an intronic SNP pair, rs7107152 and rs1242229, in SIDT2 gene at 11q23.3. Both SNPs correlate with the expression of SIDT2 and TAGLN, whose products promote insulin secretion and lipid metabolism, respectively. This SNP pair showed statistical significance at the replication stage.

Conclusions: Our findings provide insight into an underlying mechanism that contributes to metabolic syndrome.

Keywords: 11q23.3; Metabolic syndrome; Multiple traits; Multiple variants; SIDT2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cardiovascular Diseases / epidemiology
  • Cohort Studies
  • Diabetes Mellitus, Type 2 / epidemiology
  • Female
  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • Humans
  • Introns / genetics*
  • Male
  • Metabolic Syndrome / epidemiology
  • Metabolic Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Middle Aged
  • Muscle Proteins / genetics*
  • Nucleotide Transport Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Republic of Korea / epidemiology

Substances

  • Microfilament Proteins
  • Muscle Proteins
  • Nucleotide Transport Proteins
  • SIDT2 protein, human
  • transgelin