Department of Clinical Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, China.
Department of Blood Transfusion, The Affiliated Hospital of Qingdao University, Qingdao, China.
Biosci Rep. 2020 Sep 30;40(9). doi: 10.1042/BSR20193637.
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).
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).
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.
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.
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。
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。
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。
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。