Annexin A5、FOXP3基因与中国汉族女性卵巢早衰的相关性分析

Analysis on correlation between Annexin A5,FOXP3 genes and idiopathic premature ovarian failure in Chinese Han females

目的探讨中国汉族女性中膜联蛋白A5(Annexin A5)基因、叉头样转录因子3(FOXP3)基因多态性与卵巢早衰(POF)之间的关系。方法在2007年12月至2014年12月来该院就诊的中国汉族女性人群中选取POF患者100例(观察组)和健康女性140例(对照组),挑选能够覆盖Annexin A5全基因的4个标签单核苷酸多态性(Tag SNPs)(rs2306420、rs6857766、rs2306415、rs1383232),FOXP3基因的2个Tag SNPs(rs3761548、rs3761549)作为检测指标,采用对照研究方法,利用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF MS)检测Annexin A5、FOXP3基因型和等位基因在两组人群中的分布情况。结果 Annexin A5基因的4个Tag SNPs及FOXP3的2个Tag SNPs基因型和等位基因在POF观察组及对照组的频率分布差异均无统计学意义(P>0.05),且Annexin A5基因各位点所能构成的单体型,差异无统计学意义(P>0.05)。FOXP3基因rs3761548、rs3761549所构成的单体型中AC单体型在观察组和对照组中的分布情况比较,差异有统计学意义(P<0.05)。结论该研究排除了Annexin A5基因作为中国汉族女性POF易感基因的可能性,而FOXP3基因AC单体型(rs3761548、rs3761549)人群POF的发生率可能会升高。

Objective To investigate the correlation between the polymorphisms of Annexin A5 and FOXP3 genes with the premature ovarian failure（POF） in Chinese Han females. Methods Among 100 Han female cases （observation group） of POF in our hospital from December 2007 to December 2014 and 140 healthy females（control group） ,4 tag SNPs （rs2306420,rs6857766, rs2306415, rs 1383232 ） covering the entire sequence of the gene Annexin A5 and 2 tag SNPs （rs3761548 and rs3761549 ） of gene FOXP3 were selected as the detection indicators. The case-control research method was adopted. The matrix-assisted laser desorp- tion/ionization time-of-flight mass spectrometry （MALDI-TOF MS ） was used to detect the distribution situation of Annexin A5 and FOXP3 genotypes and allele in the two groups. Results No statistically significant difference was found in the distributions of genotypes and alleles for 4 tag SNPs of gene Annexin A5 and 2 Tag SNPs of FOXP3 gene between the observation group and con- trol group （P〉0.05）. Moreover the haplotype constituted by various loci of Annexin A5 gene had no statistical difference （P〉O.05）. The haplotype constituted by FOXP3 gene rs3761548 and rs3761549 in the observation group was significantly higher than that in the healthy control group, the difference was statistically significant （P〈0.05）. Conclusion This research excludes the possibility of Annexin A5 gene as the POF susceptible gene in Chines Han females, however, the occurrence rate of POF may be increased in the female group with haplotype AC （rs3761548 ,rs3761549）of FOXP3 gene.