Prevalence of uncoupling protein one genetic polymorphisms and their relationship with cardiovascular and metabolic health

PLoS One. 2022 Apr 28;17(4):e0266386. doi: 10.1371/journal.pone.0266386. eCollection 2022.

Abstract

Contribution of UCP1 single nucleotide polymorphisms (SNPs) to susceptibility for cardiometabolic pathologies (CMP) and their involvement in specific risk factors for these conditions varies across populations. We tested whether UCP1 SNPs A-3826G, A-1766G, Ala64Thr and A-112C are associated with common CMP and their risk factors across Armenia, Greece, Poland, Russia and United Kingdom. This case-control study included genotyping of these SNPs, from 2,283 Caucasians. Results were extended via systematic review and meta-analysis. In Armenia, GA genotype and A allele of Ala64Thr displayed ~2-fold higher risk for CMP compared to GG genotype and G allele, respectively (p<0.05). In Greece, A allele of Ala64Thr decreased risk of CMP by 39%. Healthy individuals with A-3826G GG genotype and carriers of mutant allele of A-112C and Ala64Thr had higher body mass index compared to those carrying other alleles. In healthy Polish, higher waist-to-hip ratio (WHR) was observed in heterozygotes A-3826G compared to AA homozygotes. Heterozygosity of A-112C and Ala64Thr SNPs was related to lower WHR in CMP individuals compared to wild type homozygotes (p<0.05). Meta-analysis showed no statistically significant odds-ratios across our SNPs (p>0.05). Concluding, the studied SNPs could be associated with the most common CMP and their risk factors in some populations.

Publication types

  • Meta-Analysis
  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiovascular Diseases* / genetics
  • Case-Control Studies
  • Cytidine Monophosphate
  • Genetic Predisposition to Disease
  • Humans
  • Metabolic Diseases* / genetics
  • Polymorphism, Single Nucleotide*
  • Prevalence
  • Uncoupling Protein 1* / genetics

Substances

  • Uncoupling Protein 1
  • Cytidine Monophosphate

Grants and funding

• European Union 7th Framework Program (FP7-PEOPLE-2013-IRSES Grant No. 319010; U-GENE project • Russian Science Foundation grant 20-14-00201 (case-control study in the Russian population; meta-analysis). • Polish Ministry of Science and Higher Education 2016-2017 international project co-financed W15/7.PR/2016. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.