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ALMS1 变异与早发冠状动脉疾病的相关性:中国人群的病例对照研究。

Association between ALMS 1 variants and early-onset coronary artery disease: a case-control study in Chinese population.

机构信息

Department of Clinical Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, China.

Department of Blood Transfusion, The Affiliated Hospital of Qingdao University, Qingdao, China.

出版信息

Biosci Rep. 2020 Sep 30;40(9). doi: 10.1042/BSR20193637.

DOI:10.1042/BSR20193637
PMID:32808654
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7463302/
Abstract

BACKGROUND

Genome-wide linkage analysis revealed the polymorphism of rs6748040 and glutamic acid repeat are potential pathogenic factors of early-onset myocardial infarction (MI). The present study was designed to investigate the associations of Alström syndrome 1 (ALMS 1) gene in Chinese populations with early-onset coronary artery disease (CAD).

METHODS

The two variants of the ALMS 1 gene were genotyped in 1252 early-onset CAD patients and 1378 controls using PCR, followed by Sml I restriction enzyme digestion or direct sequencing of the PCR product. The associations were estimated using the odds ratio (OR) and the 95% confidence interval (CI).

RESULTS

A significant association between the ALMS 1 G/A variant and the risk of early-onset MI was detected in G vs.A (OR = 1.371, 95% CI: 1.183-1.589), GG vs. AA (OR = 2.037, 95% CI: 1.408-2.948), dominant genetic model (OR = 1.794, 95% CI: 1.254-2.567), and recessive genetic model (OR = 1.421, 95% CI: 1.177-1.716). 14 glutamic acid repeat (A14) is risk factor for early-onset MI (OR = 1.605, 95% CI: 1.313-1.962) and 17 glutamic acid repeat (A17) is protective factor for the disease (OR = 0.684, 95% CI: 0.601-0.827). These associations were not detected in early-onset CAD patients.

CONCLUSIONS

Our findings indicated that G/A variant (rs6748040) and glutamic acid repeat polymorphism of the ALMS 1 gene associated with the risk of early-onset MI in the Chinese population.

摘要

背景

全基因组连锁分析显示,rs6748040 多态性和谷氨酸重复是早发心肌梗死(MI)的潜在致病因素。本研究旨在探讨中国人群中 Alström 综合征 1(ALMS 1)基因与早发冠心病(CAD)的关系。

方法

采用 PCR 扩增后 Sml I 酶切或直接测序法检测 1252 例早发 CAD 患者和 1378 例对照者 ALMS 1 基因的 2 个变异位点,应用优势比(OR)及其 95%可信区间(95%CI)来估计关联强度。

结果

与 A 等位基因相比,ALMS 1 G/A 变异与早发 MI 风险相关(G vs.A:OR=1.371,95%CI:1.183-1.589;GG vs. AA:OR=2.037,95%CI:1.408-2.948;显性遗传模型:OR=1.794,95%CI:1.254-2.567;隐性遗传模型:OR=1.421,95%CI:1.177-1.716)。14 个谷氨酸重复(A14)是早发 MI 的危险因素(OR=1.605,95%CI:1.313-1.962),17 个谷氨酸重复(A17)是疾病的保护因素(OR=0.684,95%CI:0.601-0.827)。但这些关联在早发 CAD 患者中未被检测到。

结论

本研究结果表明,ALMS 1 基因的 G/A 变异(rs6748040)和谷氨酸重复多态性与中国人群早发 MI 风险相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/629e/7463302/4f84630e18cb/bsr-40-bsr20193637-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/629e/7463302/7a1aa4049796/bsr-40-bsr20193637-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/629e/7463302/45d51bbefca0/bsr-40-bsr20193637-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/629e/7463302/4f84630e18cb/bsr-40-bsr20193637-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/629e/7463302/7a1aa4049796/bsr-40-bsr20193637-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/629e/7463302/45d51bbefca0/bsr-40-bsr20193637-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/629e/7463302/4f84630e18cb/bsr-40-bsr20193637-g3.jpg

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