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. 2023 Jun 15;91(3):268-277.
doi: 10.3390/arm91030021.

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

Khanh Hoang Pham  1 , Nhung Thi Cam Tran  2 , Hung Do Tran  1 , Toan Hoang Ngo  1 , Van De Tran  1 , Hung Huynh Vinh Ly  1 , Nga Thi Ngoc Pham  1 , Thang Nguyen  1 , Binh Huy Nguyen  3 , Kien Trung Nguyen  1
Affiliations

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

Khanh Hoang Pham et al. Adv Respir Med. .

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.

Keywords: FAM13A; chronic obstructive pulmonary disease.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Research performance flowchart. * The Sanger sequencing reaction was used to investigate mutations, and capillary electrophoresis was conducted on the ABI 3500 Genetic Analyzer system. The PCR product can be utilized for the next PCR-RFLP technique to determine the sequence of nucleotides at the SNPs on FAM13A.
Figure 2
Figure 2
A part of the nucleotide sequence of the FAM13A rs2869967 SNP.
Figure 3
Figure 3
A part of the nucleotide sequence of the FAM13A rs17014601 SNP.
See this image and copyright information in PMC

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