中文摘要：

目的 探讨前列腺环素合酶基因（CYP8A1）GLu461ALa多态性与维吾尔族人群心肌梗死（myocardial infarction，MI）的相关性。方法采用聚合酶链反应-限制性片段长度多态性方法，对210例维吾尔族MI患者和206名维吾尔族健康受试者CYP8A1基因4号外显子GLu461ALa位点进行分析，同时进行血清6-酮前列腺素F1α水平测定。结果CYP8A1基因4号外显子GLu461ALa在MI组和健康对照组中基因型频率分别为：CC型0．024（5／210）和0．010（2／206），AC型0．124（26／210）和0．073（15／206），AA型0．852（179／210）和0．917（189／206），两组CC、AC和AA3种基因型频率分布差异无统计学意义（X^2=0．782，P〉0．05），但CC＋AC（突变纯合子＋突变杂合子）在MI组[0．148（31／210）]明显高于对照组[0．083（17／206）]，差异具有统计学意义（X^2=4．321，P=0．031），且在两组人群中C等位基因频率[0．086（36／420），0．046（19／412）]差异具有统计学意义（X^2=5．284，P=0．021）。MI组血清6-酮前列腺素F1α水平[（17．40±4．56）pg／ml]低于对照组[（20．34±5．02）pg／ml]，差异具有统计学意义（t=6．255，P〈0．01）；MI组和对照组CC＋AC基因型携带者血清6-酮前列腺素F1α水平[（14．30±3．31）pg／ml，（18．31±4．62）pg／ml]均较AA基因型者[（19．34±5．51）pg／ml，（25．10±5．oo）pg／m1]降低，差异具有统计学意义（t’=6．934，P〈0．05；t=5．393，P〈0．01）。logistic回归分析显示，调整传统危险因素的干扰后，CYP8A1C等位基因仍为MI的独立危险因素（OR=1．77；95％CI：1．06～2．05）。结论CYPSA1基因4号外显子GLu461ALa多态性和维吾尔族人群MI的发生具有相关性，可能和基因变异导致的血清前列腺环素水平降低有关。

英文摘要：

Objective To investigate the association between the polymorphism of prostacyclin synthase gene （ CYP8A1 ） and myocardial infarction （MI） in Uigur population. Methods Totally 210 patients with MI and 206 healthy control subjects were detected by polymerase chain reaction and restriction fragment length polymorphism. The serum 6-keto-PGF1α was detected with radioimmunoassay kit in all subjects. Results The frequencies of CC,AC and AA were 0. 024（5/210） ,0. 124（26/210） and 0. 852 （179/210） in MI group while ones those 0. 010 （ 2/206 ）, 0. 073 （ 15/206 ） and 0. 917 （ 189/206 ） in the controls. There was no significant difference in frequencies of CC, AC and AA genotypes between controls and MI cases （ X^2 = 0. 782, P 〉 0. 05 ）, but the frequency of CC ＋ AC genotype in MI group [ 0. 14 （ 31/210） ] was higher than that in the controls [ 0. 083 （17/206） ] giving significant difference （X^2 = 4. 321, P = 0.031 ）. The C allele frequency in the MI group[0. 086（36/420） ]was higher than that in the controls[0. 046（19/412） ] showing significant statistical difference （ X^2 = 5. 284, P = 0. 021 ）. There was significant difference （ t = 6. 255, P 〈 0. 01 ） in serum 6-keto-PGF1α level between MI group [ （ 17.40 ± 4. 56） pg/ml ] and control group [ （20. 34 ±5.02）pg/ml]. In the cases and control group,the serum 6-keto-PGF1α level of the persons with CC ＋ AC genotype [ （14. 30 ± 3.31 ）pg/ml, （ 18.31 ± 4. 62 ）pg/ml ] was lower than those of AA genotypes [ （ 19. 34 ± 5.51 ） pg/ml, （ 25.10 - 5.00 ） pg/ml, and the statistical significance was also observed （ t＇ = 6. 934,P 〈 0. 05 ; t = 5. 393,P 〈 0. 01 ）. Logistic regression analysis showed that the C allele of the CYP8A1 gene was an independent risk factor for MI （ OR = 1.77 ;95 % CI： 1.06 - 2.05）. Conclusion The C allele of CYP8A1 might be a risk factor of MI in Uigur population, and be resulting from the decrease of serum 6-keto- PGF1α level for gene variation.