TNNT1 基因座的表观遗传和遗传变异与 HDL-C 水平和冠状动脉疾病有关。
Epigenetic and genetic variations at the TNNT1 gene locus are associated with HDL-C levels and coronary artery disease.
机构信息
Department of Biochemistry, Université de Sherbrooke, Sherbrooke, QC J1K 2R1, Canada.
ECOGENE-21 & Lipid Clinic, Chicoutimi Hospital, Saguenay, QC G7H 5H6, Canada.
出版信息
Epigenomics. 2016 Mar;8(3):359-71. doi: 10.2217/epi.15.120. Epub 2016 Mar 7.
AIM
To assess whether epigenetic and genetic variations at the TNNT1 gene locus are associated with high-density lipoprotein cholesterol (HDL-C) and coronary artery disease (CAD). Patients, materials & methods: TNNT1 DNA methylation and c.-20G>A polymorphism were genotyped in subjects with and without familial hypercholesterolemia (FH).
RESULTS
Lower TNNT1 DNA methylation levels were independently associated with lower HDL-C levels and with the TNNT1 c.-20G>A polymorphism. In FH men, carriers of the TNNT1 c.-20G>A polymorphism had lower HDL-C levels and an increased risk of CAD compared with noncarriers. In non-FH men, a higher TNNT1 DNA methylation level was associated with CAD.
CONCLUSION
These results suggest that TNNT1 genetic and epigenetic variations are associated with HDL-C levels and CAD.
目的
评估 TNNT1 基因座的表观遗传和遗传变异是否与高密度脂蛋白胆固醇 (HDL-C) 和冠状动脉疾病 (CAD) 相关。
患者、材料和方法：在有和没有家族性高胆固醇血症 (FH) 的患者中，对 TNNT1 DNA 甲基化和 c.-20G>A 多态性进行了基因分型。
结果
TNNT1 DNA 低甲基化水平与 HDL-C 水平降低独立相关，并与 TNNT1 c.-20G>A 多态性相关。在 FH 男性中，与非携带者相比，TNNT1 c.-20G>A 多态性的携带者 HDL-C 水平较低，CAD 风险增加。在非 FH 男性中，较高的 TNNT1 DNA 甲基化水平与 CAD 相关。
结论
这些结果表明，TNNT1 遗传和表观遗传变异与 HDL-C 水平和 CAD 相关。
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