对氧磷酶-2（PON2）基因内含子单核苷酸多态性与脑梗死的相关性研究

目的探讨对氧磷酶-2（PON2）基因内含子单核苷酸多态性（SNP）与脑梗死（cerebral infarction，CI）的关系。方法检测108例健康体检者（对照组）和128例脑梗死患者（病例组）PON2基因内含子的两个位点（intron1，rs2299267和intron4，rs17166875）的基因多态性，分析其在正常人群及脑梗死患者中的频率分布特点。结果rs2299267 A/G及rs17166875 C/T的基因型和等位基因频率在脑梗死组和对照组之间的差异无显著性意义（P〉0.05）。经性别分层分析后，脑梗死组女性的rs2299267 G等位基因频率为37.8%，对照组为21.3%，差异有统计学意义（P=0.024）；脑梗死组女性G等位基因（AG＋GG）携带者为56.1%，对照组为35.1%，其差异接近有显著性（P=0.064），提示该多态性与女性脑梗死有相关倾向，女性G等位基因携带者发生脑梗死的风险是AA基因型的2.36倍（OR：2.36，95%，CI：0.95～5.9）。结论本研究发现，PON2基因内含子1的rs2299267 G等位基因与中国汉族人女性的脑梗死发病有关，内含子4的rs17166875位点的单核苷酸多态性与脑梗死无关。因此，PON2参与脑梗死的发病的具体机制还需要进一步研究。基金项目：2006湛江市科技招标项目（卒中单元的建设和推广项目号ZZ060T）资助作者单位：524001广东医学院附属医院神经内科作者简介：冼文川（1979一），男，硕士，住院医师。研究方向：脑血管疾病。

Association between single nucleotide polymorphisms in Paraoxonase-2 introns and cerebral infarction

Objective To investigate the association between single nucleotide polymorphisms （SNP） in Paraoxonase-2 （PON2） introns and cerebral infarction （CI）. Methods 128 cases and 108 health individual controls were collected from Chinese Hans. Two variant sites in the PON2 introns （intronl rs2299267 and intron4 rs17166875） were selected, and their genotypes and allelic frequencies were identified by PCR-RFLP. Results This study showed that the genotypes and allelic frequencies of rs2299267 and rs17166875 had no significant difference between cases and controls （P 〉 0.05）. After stratified analysis, rs2299267 G allelic frequencies of female in the case group was significantly higher than that in the control group （37.80//00 versus 21.3% P =0. 024）, and G allele carries observed a 2.36- fold higher risk of CI than AA homozygotes （odds ratio 2.36,95 %,CI 0.95 - 5.9）. Conclusions This study suggested that rs2299267 G allele associated with female cerebral infarction in Chinese Hans, and rs17166875 gene polymorphism had no association with CI, that may be involved in the pathogenesis of CI in other way, further work in large cohort of studies is therefore required.