OBJECTIVE: In this study, we examine the association of single nucleotide polymorphisms (SNPs) of the human ATP binding cassette transporter G1 (ABCG1) gene with atherosclerotic coronary artery disease (CAD) in a Chinese Han population. METHODS: 1021 patients with CAD and 1013 unaffected control subjects were enrolled. PCR-based ligation detection reaction (PCR-LDR) method was used to genotype four SNPs of ABCG1, three (rs2234714, rs2234715 and rs57137919) in the promoter region and one (rs1044317) in the 3'-untranslated region (UTR). RESULTS: The human ABCG1 -367G>A polymorphism (rs57137919) showed a significantly decreased risk for CAD and myocardial infarction (MI) in a dominant model (adjusted OR = 0.73, p = 0.033 for CAD, and adjusted OR = 0.65, p = 0.014 for MI, respectively). The rs57137919 also showed an association with angiographic severity of CAD (multi-vessel vs. single-vessel CAD, adjusted OR = 0.40, p = 0.005). The findings were further supported by luciferase reporter assay, in which the polymorphism impaired reporter gene expression. The ABCG1 -768G>A polymorphism (rs2234714) showed an association with CAD in a recessive model (adjusted OR = 0.64, p = 0.015), but did not demonstrate a functional influence on reporter gene expression in the luciferase reporter assay. CONCLUSIONS: The SNP rs57137919 in the ABCG1 promoter region is functionally associated with a reduced risk of CAD in a Chinese Han population.
OBJECTIVE: In this study, we examine the association of single nucleotide polymorphisms (SNPs) of the humanATP binding cassette transporter G1 (ABCG1) gene with atherosclerotic coronary artery disease (CAD) in a Chinese Han population. METHODS: 1021 patients with CAD and 1013 unaffected control subjects were enrolled. PCR-based ligation detection reaction (PCR-LDR) method was used to genotype four SNPs of ABCG1, three (rs2234714, rs2234715 and rs57137919) in the promoter region and one (rs1044317) in the 3'-untranslated region (UTR). RESULTS: The humanABCG1 -367G>A polymorphism (rs57137919) showed a significantly decreased risk for CAD and myocardial infarction (MI) in a dominant model (adjusted OR = 0.73, p = 0.033 for CAD, and adjusted OR = 0.65, p = 0.014 for MI, respectively). The rs57137919 also showed an association with angiographic severity of CAD (multi-vessel vs. single-vessel CAD, adjusted OR = 0.40, p = 0.005). The findings were further supported by luciferase reporter assay, in which the polymorphism impaired reporter gene expression. The ABCG1 -768G>A polymorphism (rs2234714) showed an association with CAD in a recessive model (adjusted OR = 0.64, p = 0.015), but did not demonstrate a functional influence on reporter gene expression in the luciferase reporter assay. CONCLUSIONS: The SNP rs57137919 in the ABCG1 promoter region is functionally associated with a reduced risk of CAD in a Chinese Han population.
Authors: V H S Zago; D Z Scherrer; E S Parra; N B Panzoldo; F Alexandre; E R Nakandakare; E C R Quintão; E C de Faria Journal: Mol Biol Rep Date: 2014-11-15 Impact factor: 2.316
Authors: Hsin-Yuan Cheng; Dalia E Gaddis; Runpei Wu; Chantel McSkimming; LaTeira D Haynes; Angela M Taylor; Coleen A McNamara; Mary Sorci-Thomas; Catherine C Hedrick Journal: J Clin Invest Date: 2016-08-02 Impact factor: 14.808
Authors: Liliane Pfeiffer; Simone Wahl; Luke C Pilling; Eva Reischl; Johanna K Sandling; Sonja Kunze; Lesca M Holdt; Anja Kretschmer; Katharina Schramm; Jerzy Adamski; Norman Klopp; Thomas Illig; Åsa K Hedman; Michael Roden; Dena G Hernandez; Andrew B Singleton; Wolfgang E Thasler; Harald Grallert; Christian Gieger; Christian Herder; Daniel Teupser; Christa Meisinger; Timothy D Spector; Florian Kronenberg; Holger Prokisch; David Melzer; Annette Peters; Panos Deloukas; Luigi Ferrucci; Melanie Waldenberger Journal: Circ Cardiovasc Genet Date: 2015-01-12
Authors: Norimasa Tamehiro; Min Hi Park; Victoria Hawxhurst; Kamalpreet Nagpal; Marv E Adams; Vassilis I Zannis; Douglas T Golenbock; Michael L Fitzgerald Journal: Biochemistry Date: 2015-11-09 Impact factor: 3.162