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

作　　者：刘熔增[1,2] 冯明亮[1] 沈彤[1] 赵玉林[3] 刘达庄[1] 

机构地区：[1]上海市血液中心,上海200051 [2]华东师范大学生命科学学院 [3]华东师范大学生命科学学院生命医学系

出　　处：《中国输血杂志》2012年第5期431-436,共6页Chinese Journal of Blood Transfusion

摘　　要：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.

关 键 词：中国汉族 HLA-DM 多态性 强直性脊柱炎 疾病相关性 

分 类 号：R457.11[医药卫生—治疗学] R551.3[医药卫生—临床医学]