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Qinjun Yang1,2,3, Wanqiu Huang1, Dandan Yin4

  • 1Anhui University of Chinese Medicine, Hefei, China.

Frontiers in Genetics
|June 7, 2023
PubMed
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Genetic variations in EPHX1 and GSTP1 influence chronic obstructive pulmonary disease (COPD) risk. Specific alleles and genotypes are identified as risk or protective factors in Asian and Caucasian populations, aiding in understanding COPD susceptibility.

Area of Science:

  • Genetics and Environmental Health
  • Respiratory Medicine
  • Molecular Epidemiology

Background:

  • Chronic obstructive pulmonary disease (COPD) is a major global health concern affecting millions, characterized by high mortality and morbidity.
  • The genetic underpinnings of COPD susceptibility, particularly the roles of specific gene polymorphisms, require further elucidation.
  • Investigating gene-environment interactions is crucial for understanding COPD pathogenesis.

Approach:

  • A comprehensive systematic literature review and meta-analysis was performed across multiple databases.
  • Studies investigating the association between EPHX1 and GSTP1 gene polymorphisms and COPD risk were systematically identified and analyzed.
  • Pooled odds ratios (OR) and 95% confidence intervals (CI) were calculated, with heterogeneity and publication bias assessed using standard statistical tests (I2, Q, Egger's, Begg's).
Keywords:
COPD riskEPHX1GSTP1gene polymorphismmeta-analysis

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Key Points:

  • The EPHX1 rs1051740 polymorphism was significantly associated with increased COPD risk across various genetic models, particularly in Asian and Caucasian subgroups.
  • The EPHX1 rs2234922 polymorphism showed a significant association with reduced COPD risk, notably in Asians.
  • Specific genotypes of GSTP1 (rs1695 and rs1138272) were linked to COPD risk, especially in Caucasian populations.

Conclusions:

  • The EPHX1 rs1051740 C allele (Asians) and CC genotype (Caucasians) may represent significant risk factors for COPD development.
  • The EPHX1 rs2234922 GA genotype appears to confer a protective effect against COPD in Asian individuals.
  • Certain GSTP1 genotypes (GG at rs1695, TC at rs1138272) are implicated as potential risk factors for COPD, particularly in Caucasians.