Department of Immunology, Hospital Universitario Central de Asturias, Oviedo, Spain.
Hum Immunol. 2013 Jun;74(6):764-7. doi: 10.1016/j.humimm.2013.02.001. Epub 2013 Feb 28.
The association of human leukocyte antigen (HLA)-B27 with ankylosing spondylitis (AS) has been known for over 38 years. However, it is not the only gene associated with AS. The aim of this study was to confirm the association of HLA markers around HLA-DPA1/DPB1 region with AS in HLA-B27 positive populations. Five SNPs (rs422544, rs6914849, rs92777535, rs3128968 and rs2295119) from the HLA-DPA1/DPB1 region were genotyped in 340 individuals HLA-B27-positive from Portugal (137 AS patients and 203 healthy controls). Characterizations of HLA-DPA1/DPB1 alleles were also performed. rs422544 revealed a significant association with AS (P<0.05) and sliding windows (SW) analysis showed association of some groups of adjacent SNPs within HLA-DPA1/DPB1 region with AS (P<0.05). We also found association of the HLA-DPA1(∗)01:03 allele with AS (P<0.05). This is the first study that confirms the association of HLA markers and haplotypes around HLA-DPA1 and HLA-DPB1 with AS.
人类白细胞抗原（HLA）-B27 与强直性脊柱炎（AS）的关联已有 38 多年的历史。然而，它并不是与 AS 相关的唯一基因。本研究的目的是确认 HLA-DPA1/DPB1 区域周围 HLA 标志物与 HLA-B27 阳性人群中 AS 的关联。在来自葡萄牙的 340 名 HLA-B27 阳性个体（137 名 AS 患者和 203 名健康对照者）中，对 HLA-DPA1/DPB1 区域的 5 个 SNP（rs422544、rs6914849、rs92777535、rs3128968 和 rs2295119）进行了基因分型。还进行了 HLA-DPA1/DPB1 等位基因的特征分析。rs422544 与 AS 显著相关（P<0.05），滑动窗口（SW）分析显示 HLA-DPA1/DPB1 区域内一些相邻 SNP 组与 AS 相关（P<0.05）。我们还发现 HLA-DPA1(∗)01:03 等位基因与 AS 相关（P<0.05）。这是首次确认 HLA-DPA1 和 HLA-DPB1 周围 HLA 标志物和单倍型与 AS 相关的研究。
