骨桥蛋白基因多态性与弱精子症的相关性分析

Correlation of single nucleotide polymorphisms of the osteopontin gene with astheozoospermia

目的:探究骨桥蛋白(OPN)基因单核苷酸多态性(rs1126772、rs117291487、rs11730582、rs142608941、rs6813526)与男性弱精子症的关系。方法:选取135例弱精子症不育男性为病例组,239例有生育史的健康男性作为对照组,运用多重单碱基延伸PCR技术(SNaPshot)对OPN基因rs1126772、rs117291487、rs11730582、rs142608941、rs6813526位点进行基因分型检测,分析这5个位点多态性与男性弱精子症的相关性。结果:OPN基因rs1126772位点GA基因型和A等位基因与弱精子症发病风险存在相关性(GA vs AA:OR=0.55,95%CI,0.35~0.86,P=0.009;A vs G:OR=0.64,95%CI,0.46~0.89,P=0.007);rs11730582位点CT基因型和T等位基因与弱精子症发病风险相关(CT vs TT:OR=0.526,95%CI,0.34~0.82,P=0.009;T vs C:OR=0.60,95%CI,0.44-0.83,P=0.002),单倍型分析发现,AATCT单倍型可能具有降低弱精子症的发病风险(AATCT:OR=0.61,95%CI,0.42~0.88,P=0.008)。结论:OPN基因rs1126772和rs11730582位点多态性可能与降低弱精子症的发生相关。

Objective:To investigate the correlation of the single nucleotide polymorphisms(SNP)rs1126772,rs117291487,rs11730582,rs142608941 and rs6813526 of the osteopontin(OPN)gene with the risk of asthenozoospermia(AZS).Methods:We included 135 AZS patients in the AZS group and another 239 fertile men as normal controls.Using the SNaPshot technique,we genotyped the rs1126772,rs117291487,rs11730582,rs142608941 and rs6813526 polymorphisms of the OPN gene in all the subjects and analyzed the correlation of the five SNPs with AZS.Results:The GA genotype and A allele of the OPN gene rs1126772 were found to be correlated with the risk of AZS(GA vs AA:OR=0.55,95%CI:0.35-0.86,P=0.009;A vs G:OR=0.64,95% CI:0.46-0.89,P=0.007),and so was the CT genotype and T allele at the RS11730582 locus(CT vs TT:OR=0.526,95%CI:0.34-0.82,P=0.009;T vs C:OR=0.60,95%CI:0.44-0.83,P=0.002).Haplotype analysis showed that the AATCT haplotype decreased the risk of AZS(AATCT:OR=0.61,95%CI:0.42-0.88,P=0.008).Conclusion:The polymorphisms of the OPN gene RS1126772 and RS11730582 may reduce the risk of AZS.