Wang Xiaoling, Fan Zhongjie, Huang Jianfeng, Su Shaoyong, Yu Quanjun, Zhao Jiangong, Hui Rutai, Yao Zhijian, Shen Yan, Qiang Boqin, Gu Dongfeng
Division of Population Genetics, Cardiovascular Institute and Fu Wai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing.
Arterioscler Thromb Vasc Biol. 2003 Feb 1;23(2):328-34. doi: 10.1161/01.atv.0000051702.38086.c1.
An extensive association analysis of PON gene cluster (PONs) with coronary heart disease (CHD) was performed in Chinese Han population.
Thirty polymorphisms of PON1, PON2, and PON3 gene were identified by direct sequencing of genomic DNA derived from 48 randomly selected patients. Twelve polymorphisms were additionally investigated for association with CHD in 474 male patients and 475 controls. Univariate analyses showed the cases had significantly higher frequencies of PON1 192Q allele, 160R allele, -162A allele, and PON2 311C allele than were seen in the controls. Logistic regression analyses revealed only the PON1 R160G and -162G/A polymorphisms remained significantly associated with CHD (P=0.0054 and P=0.0002). Haplotype analyses for various polymorphism combinations additionally confirmed the results of individual polymorphism analyses. Only the frequencies of haplotypes containing -162A allele were significantly higher, whereas only the frequencies of haplotypes containing 160G allele were significantly lower in cases than in controls in various polymorphism combinations.
This extensive association study has identified the PON1 -162G/A and R160G polymorphisms to be independently associated with CHD in Chinese Han population and warrants additional study to elucidate the biological mechanism.
在中国汉族人群中对对氧磷酶基因簇（PONs）与冠心病（CHD）进行广泛的关联分析。
通过对48例随机选取患者的基因组DNA进行直接测序，鉴定出对氧磷酶1（PON1）、对氧磷酶2（PON2）和对氧磷酶3（PON3）基因的30个多态性位点。另外在474例男性患者和475例对照中研究了12个多态性位点与冠心病的关联。单因素分析显示，病例组中PON1 192Q等位基因、160R等位基因、-162A等位基因以及PON2 311C等位基因的频率显著高于对照组。逻辑回归分析显示，只有PON1 R160G和-162G/A多态性与冠心病仍存在显著关联（P = 0.0054和P = 0.0002）。对各种多态性组合的单倍型分析进一步证实了单个多态性分析的结果。在各种多态性组合中，病例组中仅含-162A等位基因的单倍型频率显著更高，而仅含160G等位基因的单倍型频率显著更低。
这项广泛的关联研究已确定PON1 -162G/A和R160G多态性在中国汉族人群中与冠心病独立相关，值得进一步研究以阐明其生物学机制。
