ABCMdb

PMID: 24691589

Wu G, Li GB, Yao M, Zhang DQ, Dai B, Ju CJ, Han M
ABCG5/8 variants are associated with susceptibility to coronary heart disease.
Mol Med Rep. 2014 Jun;9(6):2512-20. doi: 10.3892/mmr.2014.2098. Epub 2014 Apr 1., [PubMed]

Sentences

No. Mutations Sentence Comment

105 ABCG8 p.Thr400Lys Genotype All participants Tobacco smoke Non-smokers Male Female Alcohol drinking Non-drinkers Thr400Lys C>A (allele) OR (95%CI) 2.107 2.700 1.625 2.059 2.108 2.722 1.926 (1.068-4.157) (1.024-7.120) (0.597-4.421) (0.774-5.476) (0.816-5.447) (0.612-12.101) (0.895-4.143) P-value 0.032 0.045 0.342 0.148 0.124 0.188 0.094 Adjusted log-dominant model OR (95%CI) 2.034 2.663 1.472 2.220 1.975 2.152 1.972 (0.983-4.207) (0.973-7.286) (0.467-4.640) (0.746-6.608) (0.717-5.439) (0.359-12.914) (0.873-4.454) P-value 0.048 0.049 0.509 0.152 0.188 0.402 0.102 CI is adjusted for age, smoking, diabetes and HDL-C. Login to comment 158 ABCG8 p.Thr400Lys Several other studies have also demonstrated a significant association between baseline TG levels and the p.T400K polymorphism (16,32,33). Login to comment 159 ABCG8 p.Thr400Lys Notably, several association studies have also demonstrated that there is no significant association between the T400K polymorphism and plasma levels of TG (28,29,34,35). Login to comment 161 ABCG8 p.Asp19His ABCG8 p.Thr400Lys Furthermore, neither ABCG8 T400K nor D19H polymorphisms are independently associated with the risk of CHD in a cohort containing 2,012 heterozygous FH patients (37). Login to comment 166 ABCG8 p.Thr400Lys In the current study, ABCG8 CC homozygotes had >two-fold risk of CHD compared with A allele carriers, which may imply that ABCG8 T400K variants are a novel gene marker for CHD risk in the northern Han Chinese population. Login to comment 167 ABCG8 p.Thr400Lys Indeed, the T400K variant is a missense mutation that changes the amino acid residue at position 400 from arginine to histidine in ABCG8. Login to comment 172 ABCG8 p.Thr400Lys Thus, it may be expected that the expression of the ABCG5/8 gene, in C allele carriers at Thr400Lys, is able to increase markedly while consuming a high fat diet to limit cholesterol absorption but promote hepatic secretion. Login to comment