Antikainen M, Murtomäki S, Syvänne M, Pahlman R, Tahvanainen E, Jauhiainen M, Frick M H, Ehnholm C
National Public Health Institute, Department of Biochemistry, Helsinki, Finland.
J Clin Invest. 1996 Aug 15;98(4):883-5. doi: 10.1172/JCI118869.
The human paraoxonase gene (HUMPONA) is codominantly expressed as alleles A and G. The A allele codes for glutamine (A genotype) and the G allele for arginine (B genotype) at position 191 of the paraoxonase enzyme. This genetic polymorphism has been suggested to be associated with the predisposition to coronary artery disease (CAD). We investigated the frequency of paraoxonase A and G alleles in 380 well-characterized CAD patients and in 169 controls. The most common genotype in both the patients with CAD (211/380) and in healthy Finnish individuals (87/169) was AA (Gln/Gln). The heterozygous AM (Gln/Arg) genotype was present in 140 of the patients and in 75 controls. The frequency of the A allele was 0.74 in both patients and controls. The genotype distribution between the two groups did not differ (P = 0.12, chi2 test). The genotype distributions were also similar to those reported earlier in other caucasoid populations. In conclusion, we found no association between the Gln-Arg 191 polymorphism of the human paraoxonase gene and coronary artery disease in Finns.
人类对氧磷酶基因（HUMPONA）以等位基因A和G共显性表达。在对氧磷酶的第191位，A等位基因编码谷氨酰胺（A基因型），G等位基因编码精氨酸（B基因型）。这种基因多态性被认为与冠状动脉疾病（CAD）的易感性有关。我们调查了380例特征明确的CAD患者和169名对照者中对氧磷酶A和G等位基因的频率。CAD患者（211/380）和健康芬兰人（87/169）中最常见的基因型都是AA（Gln/Gln）。杂合子AG（Gln/Arg）基因型在140例患者和75名对照者中存在。患者和对照者中A等位基因的频率均为0.74。两组间基因型分布无差异（P = 0.12，卡方检验）。基因型分布也与之前在其他高加索人群中报道的相似。总之，我们发现芬兰人中人类对氧磷酶基因Gln-Arg 191多态性与冠状动脉疾病之间无关联。
