L Xie1,2,3, X Lv4, Y Sun5, Y Tong6,3, S Zhang7, Y Deng8,9,10. 1. Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. 2. The Vascular Remodeling and Developmental Defects Research Unit, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. 3. Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. 4. Department of Pediatrics, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China. 5. Tianjin Institute of Urology & Tianjin Key Laboratory of Urological Basic Medicine, & Department of Urology, Second Hospital, Tianjin Medical University, Tianjin, China. 6. Laboratory of Early Developmental and Injuries, West China Institute of Woman and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, China. 7. Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, China. 8. National Centre for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China. yingdeng_dy@163.com. 9. Laboratory of Molecular Epidemiology for Birth Defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, China. yingdeng_dy@163.com. 10. Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. yingdeng_dy@163.com.
Abstract
BACKGROUND: The scavenger receptor class B type I (SCARB1) gene plays an important role in high-density lipoprotein cholesterol (HDL-C) metabolism and may be involved in the pathogenesis of coronary artery disease (CAD). The rs5888 (C/T) single-nucleotide polymorphism (SNP) in the SCARB1 gene is functional, and we therefore examined the association between rs5888 and CAD. METHODS: The rs5888 genotypes were analyzed in 287 Chinese patients with CAD and 367 controls via the high-resolution melting curve (HRM) method. Allele frequency and genotype distribution were compared. The levels of plasma triglyceride (TG), total cholesterol (TC), HDL-C, and low-density lipoprotein-cholesterol (LDL-C) were also compared between the groups with different genotypes. RESULTS: The proportion of subjects with TT and CT genotypes in the control group was significantly higher than that in the CAD group (50.95% vs. 32.75%, p < 0.001). The frequency of individuals with T alleles in the control group was significantly higher than that in the CAD group (28.75% vs. 17.25%, p < 0.001). In the combined population (CAD and control groups), the HDL-C concentration in individuals with the TT genotype was significantly higher than in those with the CT genotype (1.81 ± 1.29 vs. 1.42 ± 0.56, p = 0.026) or in those with the CC genotype (1.81 ± 1.29 vs. 1.42 ± 0.72, p = 0.021). CONCLUSION: The results of this study suggest that the rs5888 SNP in the SCARB1 gene is associated with CAD; furthermore, the TT genotype is associated with a higher HDL-C concentration.
BACKGROUND: The scavenger receptor class B type I (SCARB1) gene plays an important role in high-density lipoprotein cholesterol (HDL-C) metabolism and may be involved in the pathogenesis of coronary artery disease (CAD). The rs5888 (C/T) single-nucleotide polymorphism (SNP) in the SCARB1 gene is functional, and we therefore examined the association between rs5888 and CAD. METHODS: The rs5888 genotypes were analyzed in 287 Chinese patients with CAD and 367 controls via the high-resolution melting curve (HRM) method. Allele frequency and genotype distribution were compared. The levels of plasma triglyceride (TG), total cholesterol (TC), HDL-C, and low-density lipoprotein-cholesterol (LDL-C) were also compared between the groups with different genotypes. RESULTS: The proportion of subjects with TT and CT genotypes in the control group was significantly higher than that in the CAD group (50.95% vs. 32.75%, p < 0.001). The frequency of individuals with T alleles in the control group was significantly higher than that in the CAD group (28.75% vs. 17.25%, p < 0.001). In the combined population (CAD and control groups), the HDL-C concentration in individuals with the TT genotype was significantly higher than in those with the CT genotype (1.81 ± 1.29 vs. 1.42 ± 0.56, p = 0.026) or in those with the CC genotype (1.81 ± 1.29 vs. 1.42 ± 0.72, p = 0.021). CONCLUSION: The results of this study suggest that the rs5888 SNP in the SCARB1 gene is associated with CAD; furthermore, the TT genotype is associated with a higher HDL-C concentration.
Entities:
Keywords:
Cholesterol, HDL; Coronary atherosclerosis; Han Chinese; Scavenger receptors, class B; Single nucleotide polymorphism
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