粘附G蛋白偶联受体ADGRG6的遗传变异与中国南方老年汉族人群COPD易感性增加有关。

IF 2.7 3区 医学 Q2 RESPIRATORY SYSTEM International Journal of Chronic Obstructive Pulmonary Disease Pub Date : 2024-12-03 eCollection Date: 2024-01-01 DOI:10.2147/COPD.S478095
Fei Chen, Jie Zhao, Rubing Mo, Xiuxiu Ding, Yue Zhang, Linhui Huang, Tian Xie, Yipeng Ding
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引用次数: 0

摘要

背景:ADGRG6基因突变与多种癌症和多种疾病相关。然而,ADGRG6基因变异对慢性阻塞性肺疾病(COPD)易感性的影响尚未得到评估。方法:考虑到中国老年人群COPD患病率较高,本研究专门以中国南方汉族老年人群为研究对象。在获得参与者的全基因组DNA后,使用Agena MassARRAY平台进行基因分型。利用逻辑回归的在线工具“SNPStats”被用来分析和评估相关性。采用多因素降维来阐明SNP-SNP相互作用对COPD风险的影响。假阳性报告概率(FPRP)用于确定显著结果是否值得注意。结果:rs11155242突变等位基因C是COPD易感性的保护性遗传因素(OR = 0.57, 95% CI = 0.36 ~ 0.91, p = 0.017)。发现rs11155242的杂合突变基因型“CA”与COPD风险降低显著相关(CA Vs AA: OR = 0.53, 95% CI = 0.32 ~ 0.90, p = 0.018)。ADGRG6-rs11155242与男性、非吸烟者和BMI低于24 kg/m2的受试者COPD风险降低密切相关(OR < 1, p < 0.05)。FPRP分析表明,本研究的阳性结果是值得注意的新发现。结论:rs11155242突变等位基因C和突变基因CA是COPD易感性的保护性遗传因素。本研究将为南方汉族老年人群COPD的个性化防治提供新的研究方向,并奠定潜在的科学依据。
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Genetic Variants in the Adhesive G Protein-Coupled Receptor ADGRG6 are Associated with Increased Susceptibility to COPD in the Elderly Han Chinese Population of Southern China.

Background: Mutations in ADGRG6 are associated with a variety of cancers and multiple types of diseases. However, the impact of genetic variations in ADGRG6 on chronic obstructive pulmonary disease (COPD) susceptibility has not yet been evaluated.

Methods: Considering the high prevalence of COPD among the elderly population in China, this study specifically targets the elderly Han population in Southern China as the study subject. Following the acquisition of participants' whole-genome DNA, genotyping was conducted using the Agena MassARRAY platform. The online tool 'SNPStats', which utilizes logistic regression, was employed to analyze and assess the correlation. Multi-factor dimensionality reduction was utilized to clarify the impact of "SNP-SNP" interactions on COPD risk. The False-Positive Report Probability (FPRP) was applied to determine whether significant results are noteworthy findings.

Results: The mutant allele "C" of rs11155242 was a protective genetic factor against COPD susceptibility (OR = 0.57, 95% CI = 0.36 to 0.91, p = 0.017). The heterozygous mutant genotype "CA" of rs11155242 was found to be significantly associated with reduced COPD risk (CA Vs AA: OR = 0.53, 95% CI = 0.32 to 0.90, p = 0.018). ADGRG6-rs11155242 was found to be strongly associated with a reduced risk of COPD in males, non-smokers, and subjects with a BMI below 24 kg/m2 (OR < 1, p < 0.05). The FPRP analysis indicated that the positive results identified in this study are noteworthy new findings.

Conclusion: The mutant allele "C" and mutant genotype "CA" of rs11155242 act as protective genetic factors against COPD susceptibility. This study will provide a new research direction for the personalized prevention and treatment of COPD in the elderly Han population in southern China, and lay a potential scientific basis.

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来源期刊
CiteScore
4.80
自引率
10.70%
发文量
372
审稿时长
16 weeks
期刊介绍: An international, peer-reviewed journal of therapeutics and pharmacology focusing on concise rapid reporting of clinical studies and reviews in COPD. Special focus will be given to the pathophysiological processes underlying the disease, intervention programs, patient focused education, and self management protocols. This journal is directed at specialists and healthcare professionals
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