1. Intronic Polymorphisms in the CDKN2B-AS1 Gene Are Strongly Associated with the Risk of Myocardial Infarction and Coronary Artery Disease in the Saudi Population
- Author
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J. Francis Borgio, Mohammed Fakhry Ibrahim, Mohammed Almansori, Ekaterina V Baranova, Rudaynah A. Alali, Abdullah M. Alshehri, Bobby P. C. Koeleman, Abdullah Al-Ali, Mohammed S. Al-Madan, Fahad Al-Muhanna, Awatif N. Al-Nafie, Sayed AbdulAzeez, Amein K. Al-Ali, Folkert W. Asselbergs, and Brendan J. Keating
- Subjects
0301 basic medicine ,Male ,Genome-wide association study ,030204 cardiovascular system & hematology ,CDKN2B-AS1 gene ,lcsh:Chemistry ,single nucleotide polymorphisms ,0302 clinical medicine ,Non-U.S. Gov't ,lcsh:QH301-705.5 ,Spectroscopy ,Genetics ,education.field_of_study ,Research Support, Non-U.S. Gov't ,General Medicine ,Middle Aged ,3. Good health ,Computer Science Applications ,coronary artery disease ,myocardial infarction ,Saudi Arabia ,Female ,RNA, Long Noncoding ,Adult ,medicine.medical_specialty ,Population ,Single-nucleotide polymorphism ,Research Support ,Polymorphism, Single Nucleotide ,Catalysis ,Article ,Inorganic Chemistry ,03 medical and health sciences ,Internal medicine ,medicine ,Journal Article ,Humans ,Physical and Theoretical Chemistry ,education ,Molecular Biology ,Genotyping ,Genetic association ,Aged ,business.industry ,Organic Chemistry ,Haplotype ,Case-control study ,Odds ratio ,Introns ,030104 developmental biology ,lcsh:Biology (General) ,lcsh:QD1-999 ,Case-Control Studies ,business - Abstract
Recent genome-wide association studies identified single nucleotide polymorphisms (SNPs) on the chromosome 9p21.3 conferring the risk for CAD (coronary artery disease) in individuals of Caucasian ancestry. We performed a genetic association study to investigate the effect of 12 candidate SNPs within 9p21.3 locus on the risk of CAD in the Saudi population of the Eastern Province of Saudi Arabia. A total of 250 Saudi CAD patients who had experienced an myocardial infarction (MI) and 252 Saudi age-matched healthy controls were genotyped using TaqMan assay. Controls with evidenced lack of CAD provided 90% of statistical power at the type I error rate of 0.05. Five percent of the results were rechecked for quality control using Sanger sequencing, the results of which concurred with the TaqMan genotyping results. Association analysis of 12 SNPs indicated a significant difference in the genotype distribution for four SNPs between cases and controls (rs564398 p = 0.0315, χ² = 4.6, odds ratio (OD) = 1.5; rs4977574 p = 0.0336, χ² = 4.5, OD = 1.4; rs2891168 p = 1.85 × 10 - 10, χ² = 40.6, OD = 2.1 and rs1333042 p = 5.14 × 10 - 9, χ² = 34.1, OD = 2.2). The study identified three protective haplotypes (TAAG p = 1.00 × 10 - 4; AGTA p = 0.022 and GGGCC p = 0.0175) and a risk haplotype (TGGA p = 2.86 × 10 - 10) for the development of CAD. This study is in line with others that indicated that the SNPs located in the intronic region of the CDKN2B-AS1 gene are associated with CAD.
- Published
- 2016