转铁蛋白基因多态性与育龄妇女缺铁性贫血的相关性

Correlation between genetic polymorphism of transferrin and iron deficiency anemia in childbearing age women

目的:探讨转铁蛋白(Tf)的基因变异对育龄妇女缺铁性贫血的影响。方法:从医院收集18～45岁女性缺铁性贫血(IDA)患者171人作为IDA病例组,社区中筛选各项铁生化指标正常者,经婚姻状况和年龄配对98人作为对照组,应用PCR-RFLP技术,分析Tf基因的G258S(G/A)位点多态性。结果:本组人群存在Tf基因的G258S(G/A)位点杂合突变GA基因型、纯合突变AA基因型未检出。对照人群野生基因型GG和杂合突变基因型GA频率分别为67.3%、32.7%;IDA组GG、GA基因型频率分别为33.9%、66.1%,两组间基因型构成和等位基因频率差异均有统计学意义。与GG基因型相比,GA基因型患IDA的OR为4.02(95%CI:2.37～6.81);与G等位基因携带者相比,A等位基因携带者患IDA的OR为2.52(95%CI:1.30～4.89)。IDA组内、对照组内的不同基因型SF水平和Hb水平差异均无统计学意义,单就Tf基因G258S(G/A)位点2种基因型来说,GG基因型的SF水平明显高于GA基因型,且两者差异有统计学意义;而不同基因型间Hb水平差异无统计学意义。结论:铁代谢相关Tf基因的G258S位点变异可能是IDA发生的危险因素。

Objective： To explore the effect of genetic polymorphism of transferrin on iron deficiency anemia in childbearing age women. Methods： 171 IDA patients aged 18 - 45 years were selected from hospitals as case group and 98 normal populations from community were selected as control group. The gene poiymorphism at Tf G25gS locus was analyzed by PCR -RFLP method. Results： The heterozygote GA of G258S locus on Tf was detected in the patients without homozygotes AA. In control group, the frequencies of GG, GA genotype were 67.3% and 32.7% , respectively. In case group, the frequencies of GG, GA genotype were 33.9% and 66. 1%, respectively, there was significant difference in genotype formation and allele frequency between two groups. The odds ratio of GA genotype was 4. 02 （95% CI： 2. 37 -6. 81 ） , and the odds of A allele was 2. 52 （95% CI： 1.30 -4. 89） . There was no significant difference in levels of SF and Hb between different genotypes in case group and control group, while the SF level of GG genotype remarkably higher than that of GA genotype. Conclusion： The GA genotype at Tf gene G258S locus might be associated with pathogenesis of iron deficiency anemia.