Single Nucleotide Polymorphisms of FAM13A Gene in Chronic Obstructive Pulmonary Disease—A Case Control Study in Vietnam

HIGHLIGHTS: What are the main findings? Study and investigation of the association of single nucleotide polymorphisms (SNPs) in the FAM13A gene with COPD. Determination of the allele frequency and genotype phenotypes of rs2869967 and rs17014601 in the FAM13A gene in individuals with COPD, and investigation of the phenotypic association with COPD risk. What is the implication of the main finding? Further studies should be conducted on nucleotide polymorphisms in the FAM13A gene to understand the relationship between SNP polymorphisms and respiratory function parameters, and to continue the progress towards constructing a predictive model for the severity of COPD with FAM13A gene SNP polymorphisms. Future directions include constructing a map of human gene polymorphisms in Vietnam, focusing on the study of genes impacting chronic obstructive pulmonary disease (COPD). ABSTRACT: Background: In 2018, GOLD addressed the issues of genotypes associated with risk factors for COPD. The genome-wide association study (GWAS) demonstrated an association between COPD and several genetic variants of single nucleotide polymorphisms (SNPs) of the FAM13A gene with the risk of COPD. Objective: To study the single nucleotide polymorphisms rs2869967 and rs17014601 of the FAM13A gene in chronic obstructive pulmonary disease. Subjects and research methods: 80 subjects diagnosed with COPD and 80 subjects determined not to have COPD according to GOLD 2020 criteria; the subjects were clinically examined, interviewed, and identified as possessing single nucleotide polymorphisms using the sanger sequencing method on whole blood samples. Results: The male/female ratio of the patient group and the control group was 79/1 and 39/1, respectively. The percentages of C and T alleles of rs2869967 in COPD patients were 50.6% and 49.4%, respectively. The percentages of C and T alleles of rs17014601 in COPD patients were 31.9% and 68.1%, respectively. At rs17014601, the ratio values of alleles T and C in the disease group and the control group were markedly different, making them statistically reliable (p = 0.031). The rate of CT genotype in the group of patients was considerably higher than that of the control group. The TT homozygous genotype had a lower risk of COPD compared with the other genotypes in the dominant model (ORTT/(CC + CT) = 0.441; CI95% = 0.233–0.833); this difference was statistically significant (p = 0.012). Conclusions: With rs17014601, it is characteristic that the frequency of the T allele appears more than the C allele, and the CT heterozygous phenotype accounts for the highest proportion in rs17014601 and rs2869967 recorded in COPD patients. There is an association between the genetic variant of the SNP FAM13A-rs17014601 and the risk of COPD.