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Updated: Apr 5, 2026
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
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Variants in multiple genes polymorphism association analysis of COPD in the Chinese Li population
Yipeng Ding1, Danlei Yang2, Long Zhou3
1Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
Summary
Genetic variations in FAM13A, SETD7, and VEGFA are linked to increased chronic obstructive pulmonary disease (COPD) risk in the Chinese Li population. This study identifies potential susceptibility loci for COPD in this ethnic group.
Area of Science:
- Genetics
- Pulmonology
- Population Health
Background:
- Chronic obstructive pulmonary disease (COPD) risk alleles can differ across populations.
- Previous research identified associations between COPD and genetic polymorphisms in FAM13A, MIR2054, SETD7, RNF150, HHIP, and VEGFA in various ethnic groups.
Purpose of the Study:
- To investigate the association between specific gene polymorphisms and COPD risk within the Chinese Li minority population.
- To identify novel genetic susceptibility loci for COPD in a distinct ethnic group.
Main Methods:
- A case-control study involving 234 COPD cases and 240 controls from the Chinese Li population.
- Genotyping of seven single nucleotide polymorphisms (SNPs) in FAM13A, MIR2054, SETD7, RNF150, HHIP, and nine SNPs in VEGFA using Sequenom Mass-ARRAY(®).
- Statistical analyses included chi-square tests, genetic models, and haplotype analysis, with linkage disequilibrium assessed using Haploview software.
Main Results:
- The minor allele 'G' of rs17050782 was associated with increased COPD risk (allele model).
- SNPs rs7671167 (dominant model) and rs17050782 (recessive model) showed significant associations with elevated COPD risk.
- A specific VEGFA haplotype ('GGCGC') was linked to a 1.48-fold increased risk of developing COPD (95% CI: 1.02-2.12, P=0.037).
Conclusions:
- This study is the first to identify FAM13A (rs7671167), SETD7 (rs17050782), and a VEGFA haplotype ('GGCGC') as potential susceptibility loci for COPD.
- These findings highlight the importance of population-specific genetic factors in COPD pathogenesis.
- The identified genetic markers may contribute to understanding COPD risk in the Chinese Li minority population.
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