Jin Zhang and Yanan Zhang
Ningxia Medical University, China
Scientific Tracks Abstracts: J Pulm Respir Med
Introduction & Objective: 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.
Method: 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]:1.11â??1.67, P=0.003), heterozygote (OR=1.76, 95% CI:1.33â??2.32, P=0.0001), and dominant (OR=1.67,
95% CI:1.28â??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.
Jin Zhang focuses on the early prevention and treatment of COPD in Ningxia for a long time. She led an epidemiological survey of COPD in Ningxia, which is a poor and remote area in China. In addition to smoking, the main COPD risk factors in Ningxia are winter heating fuel and respiratory tract infection in childhood.
E-mail: zhangyanan@nxmu.edu.cn
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