钙蛋白酶-5基因单核苷酸多态性与多囊卵巢综合征的关系研究

Calpain-5 Gene Single Nucleotide Polymorphisms are Associated with Susceptibility of Polycystic Ovary Syndrome

目的:探讨钙蛋白酶-5(Calpain-5)基因单核苷酸多态性与多囊卵巢综合征(PCOS)的关系。方法:运用等位基因特异PCR(allele-specificPCR,AS-PCR),分析61例PCOS和70例非PCOS不孕患者的Calpain-5基因4个位点(rs948976、rs4945140、rs2233546和rs2233549)的单核苷酸多态性。结果:两组间位点rs948976和位点rs2233549基因型频率比较,差异有统计学意义(χ2=4.970;χ2=7.430,P<0.05),位点rs2233546基因型频率和等位基因频率比较,差异均有统计学意义(χ2=17.270;χ2=5.830,P<0.05);位点rs4945140基因型频率和等位基因频率差异无统计学意义(P>0.05)。4个位点之间均存在连锁不平衡,单倍体型AACG、GACG、AGCG、GATG在两组间频率分布比较,差异均有统计学意义(AACG、AGCG、GATG的OR>1,P<0.01;GACG的OR<1,P<0.01)。结论:Calpain-5基因位点rs948976、rs2233546和rs2233549单核苷酸多态性与PCOS的易感性有关;单倍体型AACG、AGCG、GATG与PCOS的易感性可能有关,单倍体GACG可能是保护因素。

Objective：To determine whether the single nucleotide polymorphisms （SNP） of Calpain-5gene is associated with susceptibility to polycystic ovary syndrome （PCOS）. Methods.61 PCOS patients and 70 controls were recruited in this study. The Calpain-5 gene polymorphisms were analyzed by Allele-spe- cific PCR, （AS-PCR） at four SNP loci. rs948976, rs2233549, rs2233546 and rs4945140. Results. There were significant differences statistically between the two groups in genetypefrequency but not allele frequency at rs948976 and rs2233549 （ X2 = 4. 970 ; X2 = 7. 430, P 〈 0.05）, and in genetype and allele frequency at rs2233546 （ X2 = 17. 270 ; X 2 = 5. 830, P 〈 0.05）. No significant differences were observed at rs4945140 be- tween the two groups both in genetype and allele frequency（ P 〉0.05）. Linkage disequilibrium was detected among the 4 loci. Moreover,the haplotype frequency of AACG, GACG,AGCG and GATG was significantly different between the groups （ AACG, AGCG, GATG OR 〉 1, P 〈 0. 01 ; GACG OR 〈 1, P 〈 0.01 ）. Conclu- sions. The data showed that PCOS susceptibility may be related to SNPs at rs948976, rs2233549, rs2233546 and to SNP haplotypes of Calpain-5 gene including AACG, AGCG and GATG. Haploid GACG might be a protective factor.