Korean Journal of Clinical Laboratory Science (대한임상검사과학회지)

Korean Society for Clinical Laboratory Science (대한임상검사과학회)
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Association between PPARGC1A Genetic Polymorphisms and Type 2 Diabetes Mellitus in the Korean Population

한국인 대상의 PPARGC1A 유전적 다형성과 제2형 당뇨병과의 상관성

  • Jin, Hyun-Seok (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University) ;
  • Park, Sangwook (Department of Biomedical Laboratory Science, College of Health and Medical Science, Sangji University)
  • 진현석 (호서대학교 생명보건대학 임상병리학과) ;
  • 박상욱 (상지대학교 보건의료과학대학 임상병리학과)
  • Received : 2021.02.16
  • Accepted : 2021.02.24
  • Published : 2021.03.31
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Abstract

The prevalence of type 2 diabetes mellitus (T2DM) is increasing worldwide. T2DM is one of the most common types of diabetes and is caused by increased insulin resistance and reduced insulin secretion. Peroxisome proliferator-activated receptor γ coactivator 1 alpha (PPARGC1A) is a master modulator of mitochondrial biogenesis and of gluconeogenesis in liver. In this study, we analyzed genetic polymorphisms of PPARGC1A gene in a middle-aged Korean population with T2DM. Using the genotype data of 736 T2DM cases and 4544 healthy controls obtained from the Korean Association Resource (KARE), we analyzed genetic correlations between single nucleotide polymorphisms (SNPs) of PPARGC1A and T2DM. Fifteen SNPs of PPARGC1A demonstrated a statistically significant association with T2DM. Of these, rs10212638 exhibited the strongest correlation with T2DM (P-value=0.015, OR=1.29, CI=1.05~1.59), and the minor G allele of PPARGC1A increased the risk of T2DM. This is the first study to report a significant association between genetic polymorphisms in PPARGC1A and T2DM and suggests that SNPs of PPARGC1A display genetic correlations to the etiology of T2DM.

제2형 당뇨병(T2DM)과 그 유병률은 전세계적으로 증가하고 있다. T2DM은 인슐린 저항성이 높아지고 인슐린 분비가 감소해 발생하는 당뇨병의 가장 흔한 유형 중 하나다. 과산화물 증식활성수용체 감마 공활성제 1 알파(PPARGC1A)는 미토콘드리아 생물 발생의 마스터 조절기와 간에서 포도당신합성에 관여한다. 본 연구에서는 T2DM이 있는 한국인 중년층의 PPARGC1A 유전자의 유전적 다형성을 분석하였다. 그 결과, PPARGC1A 유전자 중 15개의 SNP가 T2DM과 통계적으로 유의한 연관성을 보였으며, 그 중 PPARGC1A 유전자의 rs10212638은 T2DM (P=0.015, OR=1.29, CI=1.05~1.59)과 통계적으로 가장 큰 유의한 상관관계를 보였다. PPARGC1A의 마이너 유전자형(minor allele) G는 T2DM의 위험을 증가시켰다. 본 연구는 T2DM와 PPARGC1A의 유전적 다형성 사이에 유의한 연관성을 보여주고 있다. 이러한 결과는PPARGC1A의 SNP가 T2DM의 병의 원인이 되는 유전적 연관성이 있음을 시사한다.

Keywords

References

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