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摘要：
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摘要：目的 分析血浆胆固醇酯转移蛋白（cholesterol ester transfer protein，CETP）和细胞
周期蛋白依赖性激酶抑制剂1A（cyclin-dependent kinase inhibitor 1A，CDKN1A）基因多
态性与代谢相关脂肪性肝病（metabolic associated fatty liver disease，MAFLD）和冠心病
（coronary heart disease，CHD）的易感性。方法 以青岛市市立医院2018年6月至2018年11月收
治的153例健康人群（健康对照组）、209例MAFLD患者（MAFLD组）、138例CHD患
者（CHD组）、95例MAFLD合并CHD患者（MAFLD合并CHD组）为研究对象。检测血
清丙氨酸氨基转移酶（alanine aminotransferase，ALT）、天冬氨酸氨基转移酶（aspartate
aminotransferase，AST）、γ-谷氨酰转移酶（γ-glutamyl transpeptidase，GGT）、碱性磷
酸酶（alkaline phosphatase，ALP）、甘油三酯（triglyceride，TG）、总胆固醇（total
cholesterol，TC）、高密度脂蛋白（high-density lipoprotein，HDL）、低密度脂蛋白
（low density lipoprotein，LDL）、总胆红素（total bilirubin，TBil）及空腹血糖（fasting
blood glucose，FPG）。采用聚合酶链式反应（polymerase chain reaction，PCR）对CETP
rs1800775、CETP rs3816117及CDKN1A rs762623进行扩增，采用ABI veriti-384 Prism测序系
统直接测序并进行基因分型。结果 各组间CETP rs1800775、CETP rs3816117及CDKN1A
rs762623基因型分布和等位频率分布差异无统计学意义（P均＞ 0.05）。CETP rs1800775
C等位基因携带者和非携带者各临床指标差异均无统计学意义（P均＞ 0.05），CETP
rs3816117 C等位基因携带者GGT水平显著低于非携带者（中位数：25.15 U/L比29.59 U/L；
z = －1.782，P = 0.021）。CDKN1A rs762623 G等位基因携带者的HDL水平显著低于非携
带者（中位数：1.07 mmol/L比1.15 mmol/L；z = 4.079，P = 0.043）。结论 本研究未发现
CETP rs1800775、CETP rs3816117及CDKN1A rs762623多态性与MAFLD及CHD易感性有
关，而CETP rs3816117及CDKN1A rs762623基因多态性均与血脂水平有关。
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Abstract: Objective To analyze gene polymorphisms of plasma cholesteryl ester transfer protein
(CETP) and cyclin dependent kinase inhibitor 1A (CDKN1A) and the susceptibility to metabolic
associated fatty liver disease (MAFLD) and coronary heart disease (CHD). Methods Total of
153 healthy controls (healthy control group), 138 cases with CHD (CHD group), 209 cases with
MAFLD (MAFLD group) and 95 cases with MAFLD and CHD (MAFLD and CHD group) in
Qingdao Municipal Hospital from June 2018 to November 2018 were enrolled in this study. Levels
of alanine aminotransferase (ALT), aspartate aminotransferase (AST), γ-glutamyl transpeptidase
(GGT), alkaline phosphatase (ALP), triglyceride (TG), total cholesterol (TC), high-density
lipoprotein (HDL), low density lipoprotein (LDL), total bilirubin (TBil) and fasting blood glucose
(FPG) were detected. CETP rs1800775, CETP rs3816117, and CDKN1A rs762623 were amplified
by polymerase chain reaction (PCR) and genotyped directly using ABI veriti-384 Prism sequencing
system. Results The genotype distribution and allele frequency distribution of CETP rs1800775,
CETP rs3816117 and CDKN1A rs762623 had no statistical difference among the groups (all P ＞
0.05). There were no statistical significance in the differences of clinical indicators between carriers
and non-carriers of CETP rs1800775 C alleles (all P ＞ 0.05). GGT level was significantly lower in
CETP rs3816117 C allele carriers than that in non-carriers (median: 25.15 U/L vs. 29.59 U/L; z =
－1.782, P = 0.021). HDL level was significantly lower in CDKN1A rs762623 G allele carriers than
that in non-carriers (median: 1.07 mmol/L vs. 1.15 mmol/L; z = 4.079, P = 0.043). Conclusions
No association was found between CETP rs1800775, CETP rs3816117 and CDKN1A rs762623
polymorphisms and susceptibility to MAFLD and CHD, while CETP rs3816117 and CDKN1A
rs762623 polymorphisms were related to the changes of blood lipid levels.
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