2. Academic Validation
  3. Suggestive evidence of genetic association of IL23R polymorphisms with chronic obstructive pulmonary disease risk in the Chinese population

Suggestive evidence of genetic association of IL23R polymorphisms with chronic obstructive pulmonary disease risk in the Chinese population

  • J Gene Med. 2023 May;25(5):e3479. doi: 10.1002/jgm.3479.
Yu Zhou 1,  Jie Chen 2,  Fenghua Bai 3,  Rubing Mo 4,  Haihong Wu 4,  Lei Zhang 4,  Jie Zhao 4,  Linhui Huang 5,  Qi Lin 5,  Chanyi He 5,  Linsang Lin 5,  Siguang Li 5,  Tian Xie 4,  Yipeng Ding 3 5
Affiliations

Affiliations

  • 1 Center of Appointment Clinic Service, Hainan Affiliated Hospital of Hainan Medical University, Haikou, Hainan, China.
  • 2 Department of General Practice, Hainan Affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
  • 3 Department of Science and Education Department, Hainan Affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
  • 4 Department of Pulmonary and Critical Care Medicine, Hainan Affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
  • 5 Department of Respiratory Medicine, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
PMID: 36750649 DOI: 10.1002/jgm.3479
Abstract

Background: Chronic obstructive pulmonary disease (COPD) is a worldwide public health problem. Previous genetic association studies have identified several susceptibility loci in the interleukin genes that may participate in the nosogenesis of COPD. This study aimed to evaluate the relationship between IL23R loci and COPD susceptibility in the Chinese population.

Methods: Agena MassARRAY technology was applied to genotype five single nucleotide polymorphisms (SNPs) in the IL23R gene in 498 COPD patients and 498 healthy people. The association between IL23R SNPs and COPD risk was calculated by logistic regression analysis, with odds ratios and 95% confidence intervals. The false-positive report probability analysis was noteworthy for evaluating the significant results. Also, haplotype analysis was performed among IL23R variants, and multifactor dimensionality reduction analysis was performed to assess the SNP-SNP interactions to predict the risk of COPD.

Results: Overall analysis showed that rs7517847 had a significant association with an increased risk of COPD. Age-stratified analysis revealed that rs7517847 was significantly related to an increased risk of COPD in people aged over 68 years old. Sex-stratified analysis illustrated a significant association between rs2295359 and rs7517847 and COPD risk in the female population. The significant association of COPD risk with IL23R SNPs was assessed by false-positive report probability values. Additionally, we observed that the haplotypes AAC and GGA formed by rs2201841, rs12743974 and rs10889677 were associated with a reduced risk of COPD (p = 0.009, p = 0.026). Also, the five-loci interaction model formed by rs2295359, rs7517847, rs2201841, rs12743974 and rs10889677 became the best predictor of COPD, with 10/10 cross-validation consistency and 52.4% testing balance accuracy.

Conclusion: The research indicated a remarkable association between IL23R variants and COPD susceptibility in the Chinese population. Larger samples and functional research are required to ascertain the relationship between IL23R variants and COPD susceptibility.

Keywords

IL23R; chronic obstructive pulmonary disease; genetic association; single nucleotide polymorphism; susceptibility.

Figures
Products