中国汉族人群HLA-DM多态性与强直性脊柱炎疾病关联分析

The association between HLA-DM polymorphisms and ankylosing spondylitis in Chinese Han population

目的比较中国汉族人群强直性脊柱炎(AS)与健康对照HLA-DMA/HLA-DMB各SNP位点及等位基因多态性,分析可能的AS疾病易感位点及基因。方法选取110名AS患者和1 000名健康无关献血者,利用Taq-Man PCR技术对7个DMA和DMB SNPs(single nucleotide polymorphisms)位点进行了基因分型,运用SPSS软件及Arlequin3.1软件统计基因频率和单体型相关参数。结果 AS组DMA*01∶02基因频率(19.55%)显著低于对照组(28.05%),AS组DMA*01∶02-DMB*01∶01单体型频率(17.51%)也显著低于对照组(26.87%);AS组与对照组DMA p496和DMB p590 SNP位点多态性、DMA*01∶02等位基因以及DMA*01∶02-DMB*01∶01单体型分布差异有统计学意义(P<0.05)。结论 DMA*01∶02等位基因和DMA*01∶02-DMB*01∶01单体型可能对于AS疾病具有保护性作用,未来有必要在其他人群中进一步确认并研究其基因功能。

Objective To study the association between SNP or allele and ankylosing spondylitis（AS） susceptibility,the frequencies of SNP and allele of HLA-DM were compared between the patient and the control groups in Chinese Han population.Methods 110 AS patients and 1 000 unrelated healthy controls were selected for this study.Seven DMA and DMB single nucleotide polymorphisms（SNPs） sites were analyzed by TaqMan PCR technology.Frequencies of alleles and SNPs of DMA and DMB were calculated by SPSS software.DMA-DMB haplotype frequencies were calculated by Arlequin3.1 software.Results The allele frequency of DMA＊01∶02（19.55%）in AS cases was significantly lower than that of healthy controls（28.05%）,and the haplotype frequency of DMA＊01∶02-DMB＊01∶01（17.51%）in AS cases was also significantly lower than that of healthy controls（26.87%）,the distributions of DMA p496 and DMB p590 SNP polymorphisms,the DMA＊01∶02 allele and the DMA＊01∶02-DMB＊01∶01 haplotype frequencies were significantly different between AS cases and healthy controls（P〈0.05）.Conclusion The DMA＊01∶02 allele and the DMA＊01∶02-DMB＊01∶01 haplotype appear to confer protection in AS.In an attempt to verify the association detected and to achieve further insight into the genetic function,future work is still required.