Genetic variants in FAM13A and IREB2 are associated with the susceptibility to COPD in a Chinese rural population: a case-control study

Abstract

Background

Genome-wide association studies identified several genomic regions associated with the risk of chronic obstructive pulmonary disease (COPD), including the 4q22 and 15q25 regions. These regions contain the FAM13A and IREB2 genes, which have been associated with COPD but data are lacking for Chinese patients. The objective of the study was to identify new genetic variants in the FAM13A and IREB2 associated with COPD in Northwestern China.

Methods

This was a case-control study performed in the Ningxia Hui Autonomous Region between January 2014 and December 2016. Patients were grouped as COPD and controls based on FEV₁/FVC<70%. Seven tag single-nucleotide polymorphisms (SNPs) in the FAM13A and IREB2 genes were genotyped using the Agena MassARRAY platform. Logistic regression was used to determine the association between SNPs and COPD risk.

Results

rs17014601 in FAM13A was significantly associated with COPD in the additive (odds ratio [OR]=1.36, 95% confidence interval [CI]: 1.11–1.67, P=0.003), heterozygote (OR=1.76, 95% CI: 1.33–2.32, P=0.0001), and dominant (OR=1.67, 95% CI: 1.28–2.18, P=0.0001) models. Stratified analyses indicated that the risk was higher in never smokers. rs16969858 in IREB2 was significantly associated with COPD but in the univariate analysis only, and the multivariate analysis did not show any association.

Conclusion

The results suggest that the new variant rs17014601 in the FAM13A gene was significantly associated with COPD risk in a Chinese rural population. Additional studies are required to confirm the role of this variant in COPD development and progression.

Keywords:

• FAM13A
• IREB2
• chronic obstructive pulmonary disease
• single-nucleotide polymorphism

Supplementary materials

Table S1 Stratified analysis of the association between the rs16969858 SNP and COPD risk

Table S2 Effect of the rs16969858 SNP genotype in different smoking statuses

Table S3 Effect of the rs16969858 SNP according to different smoking statuses and the dominant and recessive models

Table S4 Effect of the rs17014601 SNP in different smoking statuses

Table S5 Effect of the rs17014601 SNP in different smoking statuses according to the dominant and recessive models

Acknowledgments

We would like to thank the individuals who participated in this study, as well as the staff who helped complete the questionnaires and collect blood samples: Xiulan Wu, Zhanfu Yao, and Zhonggang Zhao (from the Center for Disease Control and Prevention in Qingtongxia city, Ningxia Hui Autonomous Region, People’s Republic of China); Xingyan Lu and Liankai Chen (from the Ye Sheng town hospital in Qingtongxia City, Ningxia Hui Autonomous Region, People’s Republic of China); and Tao Ma (from the Qingtongxia City Hospital, Ningxia Hui Autonomous Region, People’s Republic of China). This study was funded by the Ningxia Science and Technology Huimin project (Grant No 2014KJHM05), the Ningxia Medical University scientific research project (Grant No 2001210203), and the National Natural Science Foundation of China (Grant No 81760011).

Disclosure

The authors report no conflicts of interest in this work.