HLA-B基因rs1058026和rs3819299位点单核苷酸多态性与女性强直性脊柱炎易感性的关系

Relation of single nucleotide polymorphism of HLA-B gene at loci rs1058026 and rs3819299 with susceptibility to ankylosing spondylitis in females

目的探讨人类白细胞抗原(HLA)-B基因rs1058026和rs3819299位点单核苷酸多态性与女性强直性脊柱炎(AS)易感性的相关性。方法选取108例女性AS患者(病例组)及129例体检正常女性(对照组)。比较两组研究对象的一般资料,以及HLA-B基因rs1058026和rs3819299位点基因型和等位基因分布频率。使用Logistic回归模型分析上述基因位点基因型和等位基因与女性AS易感性的相关性。结果病例组AS家族史比例及HLA-B27阳性比例均高于对照组(均P<0.05),而两组吸烟史比例、饮酒史比例差异均无统计学意义(均P>0.05)。HLA-B基因rs3819299位点的等位基因G增加女性的AS发病风险(OR=16.172,P<0.05),相比于基因型TT,rs3819299位点的基因型GT增加女性的AS发病风险(OR=113.877,P<0.05);HLA-B基因rs1058026位点的等位基因和基因型与女性的AS发病风险无关(均P>0.05)。结论HLA-B基因rs3819299位点单核苷酸多态性与女性AS易感性相关,rs3819299位点的等位基因G、基因型GT可能会增加女性AS的发病风险。

Objective To explore the correlation of single nucleotide polymorphisms of human leukocyte antigen(HLA)-B gene at loci rs1058026 and rs3819299 with susceptibility to ankylosing spondylitis(AS)in females.Methods A total of 108 female patients with AS(the case group)and 129 healthy check-up females(the control group)were selected.The general data and distribution frequency of genotype and allele of HLA-B gene at loci rs1058026 and rs3819299 of research subjects were compared between the two groups.The correlation of genotype and allele of aforementioned gene loci with AS susceptibility of females was analyzed by using Logistic regression model.Results The proportion of AS family medical history and HLA-B27 positive proportion in the case group were higher than those in the control group(all P<0.05),whereas the proportions of smoking history and alcohol drinking history had no statistically significant difference between the two groups(all P>0.05).Allele G of HLA-B gene at locus rs3819299 increased the morbidity risk of AS in females(OR=16.172,P<0.05),compared with TT genotype,GT genotype at locus rs3819299 increased the morbidity risk of AS in females(OR=113.877,P<0.05);in addition,allele and genotype of HLA-B gene at locus rs1058026 were not associated with the morbidity risk of AS in females(all P>0.05).Conclusion Single nucleotide polymorphism of HLA-B gene at locus rs3819299 is associated with AS susceptibility of females,and allele G,GT genotype at locus rs3819299 may increase the morbidity risk of AS in females.