慢性阻塞性肺疾病FAM13A基因的单核苷酸多态性——越南病例对照研究

IF 1.8 Q3 RESPIRATORY SYSTEM
Khanh Hoang Pham, Nhung Thi Cam Tran, Hung Do Tran, Toan Hoang Ngo, Van De Tran, Hung Huynh Vinh Ly, Nga Thi Ngoc Pham, Thang Nguyen, Binh Huy Nguyen, Kien Trung Nguyen
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引用次数: 0

摘要

背景:2018年,GOLD研究了与COPD危险因素相关的基因型问题。全基因组关联研究(GWAS)表明,慢性阻塞性肺病与FAM13A基因单核苷酸多态性(snp)的几种遗传变异与慢性阻塞性肺病风险之间存在关联。目的:研究慢性阻塞性肺疾病FAM13A基因rs2869967和rs17014601的单核苷酸多态性。受试者和研究方法:80名诊断为COPD的受试者和80名根据GOLD 2020标准确定不患有COPD的受试者;对受试者进行临床检查、访谈,并使用全血样本的sanger测序方法确定其具有单核苷酸多态性。结果:患者组和对照组的男女比例分别为79/1和39/1。rs2869967等位基因C和T在COPD患者中的比例分别为50.6%和49.4%。rs17014601的C和T等位基因在COPD患者中的比例分别为31.9%和68.1%。在rs17014601位点,疾病组与对照组等位基因T、C比值值差异有统计学意义(p = 0.031)。患者组CT基因型检出率明显高于对照组。在优势模型中,TT纯合子基因型患COPD的风险较其他基因型低(ORTT/(CC + CT) = 0.441;(95% = 0.233-0.833);差异有统计学意义(p = 0.012)。结论:rs17014601具有T等位基因出现频率高于C等位基因的特点,且CT杂合表型在COPD患者记录的rs17014601和rs2869967中所占比例最高。SNP FAM13A-rs17014601的遗传变异与COPD风险之间存在关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Single Nucleotide Polymorphisms of <i>FAM13A</i> Gene in Chronic Obstructive Pulmonary Disease-A Case Control Study in Vietnam.

Single Nucleotide Polymorphisms of <i>FAM13A</i> Gene in Chronic Obstructive Pulmonary Disease-A Case Control Study in Vietnam.

Single Nucleotide Polymorphisms of <i>FAM13A</i> Gene in Chronic Obstructive Pulmonary Disease-A Case Control Study in Vietnam.

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

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.

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来源期刊
Advances in respiratory medicine
Advances in respiratory medicine RESPIRATORY SYSTEM-
CiteScore
2.60
自引率
0.00%
发文量
90
期刊介绍: "Advances in Respiratory Medicine" is a new international title for "Pneumonologia i Alergologia Polska", edited bimonthly and addressed to respiratory professionals. The Journal contains peer-reviewed original research papers, short communications, case-reports, recommendations of the Polish Respiratory Society concerning the diagnosis and treatment of lung diseases, editorials, postgraduate education articles, letters and book reviews in the field of pneumonology, allergology, oncology, immunology and infectious diseases. "Advances in Respiratory Medicine" is an open access, official journal of Polish Society of Lung Diseases, Polish Society of Allergology and National Research Institute of Tuberculosis and Lung Diseases.
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