Rhumatologie, Hôpital Sainte Marguerite, Assistance Publique Hôpitaux de Marseille, Marseille, France.
PLoS One. 2013 May 30;8(5):e64108. doi: 10.1371/journal.pone.0064108. Print 2013.
To provide a table indicating the risk for developing anti citrullinated protein antibody (ACPA) positive rheumatoid arthritis (RA) according to one's HLA-DRB1 genotype.
We HLA-DRB1 genotyped 857 patients with ACPA positive RA and 2178 controls from South Eastern and Eastern France and calculated Odds Ratios (OR) for developing RA for 106 of 132 possible genotypes accounting for 97% of subjects.
HLA-DRB1 genotypic ORs for developing ACPA positive RA range from 28 to 0.19. HLA-DRB1 genotypes with HLA-DRB104SE (HLA-DRB10404, HLA-DRB10405, HLA-DRB10408), HLA-DRB104∶01, HLA-DRB101 are usually associated with high risk for developing RA. The second HLA-DRB1 allele in genotype somewhat modulates shared epitope associated risk. We did not identify any absolutely protective allele. Neither the Reviron, nor the du Montcel models accurately explains our data which are compatible with the shared epitope hypothesis and suggest a dosage effect among shared epitope positive HLA-DRB1 alleles, double dose genotypes carrying higher ORs than single dose genotypes.
HLA-DRB1 genotypic risk for developing ACPA positive RA is influenced by both HLA-DRB1 alleles in genotype. We provide an HLA-DRB1 genotypic risk table for ACPA positive RA.
提供一张表格，根据 HLA-DRB1 基因型，显示发生抗瓜氨酸化蛋白抗体（ACPA）阳性类风湿关节炎（RA）的风险。
我们对来自法国东南部和东部的 857 例 ACPA 阳性 RA 患者和 2178 例对照进行了 HLA-DRB1 基因分型，并计算了 106 种可能基因型中的 132 种（占 97%的受试者）发生 RA 的优势比（OR）。
HLA-DRB1 基因型发生 ACPA 阳性 RA 的 OR 范围从 28 到 0.19。HLA-DRB104SE（HLA-DRB10404、HLA-DRB10405、HLA-DRB10408）、HLA-DRB104∶01、HLA-DRB101 等 HLA-DRB1 基因型与发生 RA 的高风险相关。基因型中的第二个 HLA-DRB1 等位基因在一定程度上调节共享表位相关风险。我们没有发现任何绝对保护性等位基因。Reviron 或 du Montcel 模型均不能准确解释我们的数据，这些数据与共享表位假说一致，并提示共享表位阳性 HLA-DRB1 等位基因之间存在剂量效应，双剂量基因型的 OR 高于单剂量基因型。
HLA-DRB1 基因型发生 ACPA 阳性 RA 的风险受基因型中两个 HLA-DRB1 等位基因的影响。我们提供了一张 ACPA 阳性 RA 的 HLA-DRB1 基因型风险表。
