摘要:
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摘要:目的 探讨青岛地区部分汉族人群三磷酸腺苷结合盒转运蛋白A1(ATP binding cassette
subfamily A member 1,ABCA1)基因多态性与非酒精性脂肪性肝病(non-alcoholic fatty liver
disease,NAFLD)的相关性。方法 选取2015年11月至2017年8月于青岛市市立医院治疗的265例
NAFLD患者为NAFLD组,126例健康者为对照组。采用常规方法检测丙氨酸氨基转移酶(alanine
aminotransferase,ALT)、天门冬氨酸氨基转移酶(aspartate aminotransferase,AST)、γ-谷氨
酰转肽酶(γ-glutamyl transferase,γ-GGT)、碱性磷酸酶(alkaline phosphatase,ALP)、血糖
(glucose,Glu)、甘油三酯(triglycerides,TG)、总胆固醇(total cholesterol,TC)、低密
度脂蛋白(low-density lipoprotein,LDL)和高密度脂蛋白(high-density lipoprotein,HDL)等
指标,采用多聚酶链式反应(polymerase chain reaction,PCR)和飞行质谱法(matrix-assisted
laser desorption/ionization time-of-flight mass spectrometry,MALDI-TOF MS)检测ABCA1基因
rs2515629和rs4149341位点的基因型,比较各组研究对象上述各指标的差异。结果 NAFLD组与
对照组ABCA1 rs2515629位点和rs4149341位点等位基因频率及基因型频率分布差异均无统计学
意义(P均> 0.05)。经混杂因素校正后,Logisitic回归模型分析显示两位点突变等位基因未增
加NAFLD的发生风险。对于rs4149341位点,在全部样本中,携带C等位基因者与携带T等位基因
者相比,收缩压和舒张压差异有统计学意义(P < 0.05),在健康对照组中,携带rs4149341 C
等位基因者碱性磷酸酶水平更高(t = 1.983,P = 0.049)。结论 青岛地区部分汉族人群ABCA1
rs2515629和rs4149341的基因多态性未增加NAFLD的患病风险。
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Abstract: Objective To investigate the association of ATP-binding cassette transporter A1 (ABCA1) gene
and non-alcoholic fatty liver disease (NAFLD) in part of Han population in Qingdao. Methods Total of 265
patients with NAFLD and 126 healthy controls in Qingdao Municipal Hospital from November 2015 to
August 2017 were selected. Alanine aminotransferase (ALT), aspartate aminotransferase (AST), γ-glutamyl
transferase (γ-GGT), alkaline phosphatase (ALP), glucose (Glu), triglycerides (TG), total cholesterol (TC),
low-density lipoprotein (LDL) and high-density lipoprotein (HDL) were detected by conventional method.
Genotypes of ABCA1 gene (rs2515629 site and rs4149341 site) were detected by polymerase chain reaction
(PCR) and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS).
The differences of the above indexes were compared. Results No significant differences of genotypes and allele
frequencies of the ABCA1 rs2515629 and rs4149341 sites were found between patients with NAFLD and healthy
controls (P > 0.05). Logistic regression model analysis adjusted for confounding factors showed that the ABCA1
rs2515629 G allele and rs4149341 C allele did not significantly increase the risk of NAFLD. The level of SBP and
DBP in carriers with ABCA1 rs4149341 C allele were significantly higher than those of rs4149341 C allele in overall
series (P < 0.05). For healthy controls, carriers of ABCA1 rs4149341 C allele had a higher level of ALP (t = 1.983,
P = 0.049). Conclusion The ABCA1 rs2515629 G allele and rs4149341 C polymorphism may be not associated
with the increased risk of NAFLD in part of Han population in Qingdao.
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