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

Autor: Guo-Wei He, Chao Xuan, Qing-Wu Tian, Shao-Qiang Zhang, Yi Wang, Shao-Yan Zhang, Hui Li
Rok vydání: 2020
Předmět:
Adult
Male
0301 basic medicine
medicine.medical_specialty
Myocardial Infarction
Biophysics
Cell Cycle Proteins
Coronary Artery Disease
Polymorphism
Single Nucleotide
Biochemistry
Gastroenterology
Molecular Bases of Health & Disease
Coronary artery disease
03 medical and health sciences
0302 clinical medicine
Asian People
Gene Frequency
Polymorphism (computer science)
Internal medicine
Genetic model
Humans
Medicine
Genetic Predisposition to Disease
Myocardial infarction
Age of Onset
Risk factor
Molecular Biology
Research Articles
business.industry
Case-control study
Exons
Genomics
Cell Biology
Odds ratio
Middle Aged
medicine.disease
Introns
030104 developmental biology
Cardiovascular System & Vascular Biology
Glutamic Acid Repeat
Case-Control Studies
030220 oncology & carcinogenesis
Mutation
Female
business
ALMS 1
Alström syndrome
Zdroj: Bioscience Reports
ISSN: 1573-4935
0144-8463
Popis: 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.
Databáze: OpenAIRE
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