Spinal Diseases Research Unit, UR04SP06, Department of Rheumatology, Institute M Kassab, Manouba, 2010, Tunisia.
Rheumatol Int. 2010 May;30(7):933-9. doi: 10.1007/s00296-009-1079-0. Epub 2009 Aug 5.
The objective of the study is to assess the distribution of HLA-B genes, HLA-B27 subtypes, HLA-DRB1 and HLA-DQB1 alleles in patients with ankylosing spondylitis (AS) and in control subjects in the Tunisian population and to compare their distribution with that found in other countries. This is a case-control study that included 100 consecutive patients (85 males/15 females) with AS according to the modified New York criteria and 100 control individuals. HLA-B, B27 subtypes and class II (DR and DQ) typing of all subjects was performed by polymerase chain reaction amplification with sequence-specific primers (PCR-SSP). HLA-B27 was found in 62% of patients against 3% in controls (P = 0.0000, OR = 52.6, 15.6 < CI < 166.7). On the other hand, B07 and B51 were significantly decreased in comparison with controls (P = 0.01, OR = 0.3, 0.1 < CI < 0.8 and P = 0.0000, OR = 0.2, 0.1 < CI < 0.4, respectively). Eight B27 subtypes were identified in the AS group, but the most frequent ones were B2702 (32%) and B2705 (24%). Among HLA-DRB1 alleles, a significant increase in DRB111 was found in comparison with controls (P = 0.01, OR = 2.2, 1.2 < CI < 4.5). However, DRB113 had a negative association with AS (P = 0.01, OR = 0.4, 0.2 < CI < 0.8). For HLA-DQB1 alleles, a significant positive association with DQB103 was observed in AS group (P = 0.03, OR = 1.8, 1.0 < CI < 3.4). Multivariate analysis by logistic regression revealed that DRB111 and DQB103 had no direct links with the disease, but were dependent on the presence of HLA-B27. Moreover, B07 and B51 seemed to have independently a negative correlation with AS, but DRB113 seemed to depend on B51. Haplotypes carrying B27 were significantly associated with AS and those carrying B07 or B51 were negatively correlated with the disease. In conclusion, our study confirms that B27 predisposes to AS while B07 and B51 are negatively correlated with the disease.
这项研究的目的是评估 HLA-B 基因、HLA-B27 亚型、HLA-DRB1 和 HLA-DQB1 等位基因在强直性脊柱炎（AS）患者和突尼斯人群对照中的分布，并将其与其他国家的分布进行比较。这是一项病例对照研究，纳入了 100 例符合改良纽约标准的连续 AS 患者（85 名男性/15 名女性）和 100 名对照。所有受试者的 HLA-B、B27 亚型和 II 类（DR 和 DQ）分型均采用聚合酶链反应扩增序列特异性引物（PCR-SSP）进行。HLA-B27 在患者中检出率为 62%，而在对照组中为 3%（P = 0.0000，OR = 52.6，15.6 < CI < 166.7）。另一方面，与对照组相比，B07 和 B51 明显减少（P = 0.01，OR = 0.3，0.1 < CI < 0.8 和 P = 0.0000，OR = 0.2，0.1 < CI < 0.4）。在 AS 组中鉴定出 8 种 B27 亚型，但最常见的是 B2702（32%）和 B2705（24%）。在 HLA-DRB1 等位基因中，与对照组相比，DRB111 显著增加（P = 0.01，OR = 2.2，1.2 < CI < 4.5）。然而，DRB113 与 AS 呈负相关（P = 0.01，OR = 0.4，0.2 < CI < 0.8）。对于 HLA-DQB1 等位基因，在 AS 组中观察到与 DQB103 呈显著正相关（P = 0.03，OR = 1.8，1.0 < CI < 3.4）。多变量 logistic 回归分析显示，DRB111 和 DQB103 与疾病无直接关系，但依赖于 HLA-B27 的存在。此外，B07 和 B51 似乎与 AS 呈负相关，但 DRB113 似乎依赖于 B51。携带 B27 的单体型与 AS 显著相关，携带 B07 或 B51 的单体型与疾病呈负相关。总之，本研究证实 B27 易患 AS，而 B07 和 B51 与疾病呈负相关。
