Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, and Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Santander, Spain.
Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Santander, Spain.
Clin Exp Rheumatol. 2021 Mar-Apr;39 Suppl 129(2):21-26. doi: 10.55563/clinexprheumatol/nn15lt. Epub 2021 Mar 18.
To determine if patients with the predominant extracranial large-vessel-vasculitis (LVV) pattern of giant cell arteritis (GCA) have a distinctive HLA-B association, different from that reported in biopsy-proven cranial GCA patients. In a further step we assessed if the combination of HLA-B and HLA-DRB1 alleles confers an increased risk for GCA susceptibility, either for the cranial and extracranial LVV phenotypes.
A total of 184 patients with biopsy-proven cranial GCA, 105 with LVV-GCA and 486 healthy controls were included in our study. We compared HLA-B phenotype frequencies between the three groups.
HLA-B15 phenotype was significantly increased in patients with classic cranial GCA compared to controls (14.7% versus 5.8%, respectively; p<0.01; OR [95% CI] =2.81 [1.54-5.11]). It was mainly due to the HLA-B15:01 allele (12.5% versus 4.0%, respectively; p<0.01; OR [95% CI] =3.51 [1.77-6.99]) and remained statistically significant after Bonferroni correction. Similar HLA-B15 association was observed in patients with the LVV-GCA (11.4% versus 5.8%, p=0.04, OR [95% CI] =2.11 [1.04-4.30]). This association was also mainly due to the HLA-B15:01 allele (10.5% versus 4.0%, respectively; p=0.0054; OR [95% CI] =2.88 [1.19-6.59]). Noteworthy, the presence of HLA-B15:01 together with HLA-DRB104:01 led to an increased risk of developing both cranial and extracranial LVV-GCA.
Susceptibility to GCA is strongly related to the HLA region, regardless of the clinical phenotype of expression of the disease.
确定具有巨细胞动脉炎（GCA）主要颅外大血管血管炎（LVV）表型的患者是否具有独特的 HLA-B 相关性，与经活检证实的颅 GCA 患者的报道不同。在进一步的步骤中，我们评估了 HLA-B 和 HLA-DRB1 等位基因的组合是否会增加颅外和颅外 LVV 表型的 GCA 易感性。
本研究共纳入 184 例经活检证实的颅 GCA 患者、105 例 LVV-GCA 患者和 486 例健康对照者。我们比较了三组之间 HLA-B 表型频率。
与对照组相比，经典颅 GCA 患者 HLA-B15 表型显著增加（分别为 14.7%和 5.8%；p<0.01；OR [95%CI] =2.81 [1.54-5.11]）。这主要归因于 HLA-B15:01 等位基因（分别为 12.5%和 4.0%；p<0.01；OR [95%CI] =3.51 [1.77-6.99]），并且在经过 Bonferroni 校正后仍然具有统计学意义。在 LVV-GCA 患者中也观察到类似的 HLA-B15 相关性（分别为 11.4%和 5.8%；p=0.04，OR [95%CI] =2.11 [1.04-4.30]）。这种相关性也主要归因于 HLA-B15:01 等位基因（分别为 10.5%和 4.0%；p=0.0054；OR [95%CI] =2.88 [1.19-6.59]）。值得注意的是，HLA-B15:01 与 HLA-DRB104:01 同时存在会增加同时发生颅外和颅外 LVV-GCA 的风险。
GCA 的易感性与 HLA 区域密切相关，而与疾病表达的临床表型无关。
