南方医科大学学报

南方医科大学学报 ›› 2014, Vol. 34 ›› Issue (10): 1481-.

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脂联素受体2基因+33371Gln/Arg、细胞色素P4502E1 基因RsaⅠ位点多态性和吸烟与非酒精性脂肪性肝病的相关性

张超贤，郭李柯   

  • 出版日期:2014-10-20 发布日期:2014-10-20

Correlation of polymorphisms of adiponectin receptor 2 gene +33371Gln/Arg, cytochrome
P4502E1 gene Rsa I and smoking with nonalcoholic fatty liver disease

  • Online:2014-10-20 Published:2014-10-20

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摘要： 目的探讨脂联素受体2（AdipoR2）基因+33371Gln/Arg、细胞色素P4502E1（CYP2E1）基因RsaⅠ位点多态性和吸烟与非
酒精性脂肪性肝病（nonalcoholic fatty liver disease, NAFLD）发病之间的关系。方法采用病例-对照研究的方法，以750例NAFLD
患者及750例健康对照者的外周血白细胞为样本，利用聚合酶链反应（polymerase chain reaction, PCR）技术分析了+33371Gln/
Arg和CYP2E1-RsaⅠ基因多态性。结果+33371Gln/Arg（A/A）基因型和CYP2E1-RsaⅠ（c2/c2）基因型频率分布分别为39.20%、
71.73%（病例组）和21.07%、43.07%（对照组）。+33371Gln/Arg（A/A）患NAFLD的风险显著增加（OR=2.4156，95% CI=1.8164~
4.0725）。CYP2E1-RsaⅠ（c2/c2）基因型者患NAFLD的风险也显著增加（OR=3.3547，95% CI=1.9182~4. 5057）。+33371Gln/
Arg（A/A）/CYP2E1-RsaⅠ（c2/c2）基因型者在NAFLD 组和对照组中的分布频率分别为32.67%和6.40%。+33371Gln/
Arg（A/A）/CYP2E1-RsaⅠ（c2/c2）基因型者患NAFLD的风险显著增加（OR=9.9264，95% CI=4.2928~12.4241）。病例组的吸烟
率显著高于对照组的吸烟率（OR=2.5919，95% CI=1.4194~4.9528），+33371Gln/Arg（A/A）/CYP2E1-RsaⅠ（c2/c2）基因型与吸烟
有协同作用（OR=34.6764，95% CI=18.9076~61.5825）。结论+33371Gln/Arg（A/A）/CYP2E1-RsaⅠ（c2/c2）基因型和吸烟是
NAFLD的易患因素，三者的联合在NAFLD的发生中起着协同的作用。

Abstract: Objective To investigate the correlation of the polymorphisms of adiponectin receptor 2 (AdipoR2) gene +33371Gln/
Arg and cytochromes P4502E1 gene Rsa I (CYP2E1-Rsa I) as well as smoking with nonalcoholic fatty liver disease (NAFLD).
Methods The polymorphisms of AdipoR2 gene + 33371Gln/Arg and CYP2E1-Rsa I were analyzed with PCR technique in
peripheral blood leukocytes from 750 NAFLD cases and 750 healthy subjects. Results The frequencies of AdipoR2 gene +
33371Gln/Arg (A/A) and CYP2E1-Rsa I (c2/c2 ) were 39.20% and 71.73% in NAFLD cases, respectively, significantly higher than
those in healthy subjects (21.07% and 43.07%, respectively, P<0.01). The risk of NAFLD increased significantly in subjects
carrying + 33371Gln/Arg (A/A) (OR=2.4156, 95% CI=1.8164-4.0725) and CYP2E1-Rsa I (c2/c2) (OR=3.3547, 95% CI=
1.9182-4.5057). Combined analysis of the polymorphisms showed that the percentage of +33371Gln/Arg (A/A)/ CYP2E1-Rsa I
(c2/c2) was 32. 67% in NAFLD cases, significantly higher than that in the healthy subjects (6.40%, P<0.01), and subjects carrying
both + 33371Gln/Arg (A/A) and CYP2E1-Rsa I (c2/c2) had a high risk of NAFLD (OR=9.9264, 95% CI=4.2928-12.4241). The
smoking rate was significantly higher in the case group than in the control group (OR=2.5919, 95% CI=1.4194-4. 9527, P<0.01),
and statistical analysis suggested an interaction between smoking and +33371Gln/Arg (A/A)/CYP2E1-Rsa I (c2/ c2) to increase
the risk of NAFLD (OR=34.6764, 95% CI=18.9076-61.5825). Conclusion + 33371Gln/Arg (A/A), CYP2E1-Rsa I (c2/c2 ) and
smoking are risk factors for NAFLD and coordinately contribute to the occurrence of NAFLD.