Pneumology Department, Centro Hospitalar São João, Faculdade de Medicina, Universidade do Porto, 4200-319 Porto, Portugal.
Respir Med. 2012 Dec;106(12):1771-7. doi: 10.1016/j.rmed.2012.08.009. Epub 2012 Sep 25.
A functional polymorphism within butyrophilin-like 2 (BTNL2) gene has been described as a potential risk factor for sarcoidosis. The association between chronicity and the rs2076530 SNP A allele has also been reported. This study evaluates the BTNL2 rs2076530 G/A allele associations with sarcoidosis susceptibility and disease evolution in a Portuguese cohort of patients. A case-control study of 151 patients and 150 controls was performed. Allele frequencies were compared with Chi-square test in a univariate analysis and with logistic regression in a multivariate analysis. BTNL2 rs206530 A allele frequencies were significantly higher in sarcoidosis with no linkage disequilibrium with HLA-DRB1 alleles, except in the subgroup of patients with Löfgren syndrome where the determinant allele was HLA-DRB103. The A allele was also increased in those with isolated thoracic disease, with no differences regarding radiological stages or disease evolution. HLA-DRB103, besides the association with Löfgren syndrome was significantly related with disease resolution. Our data confirms the association of BTNL2 rs2076530 A allele with sarcoidosis susceptibility in a Portuguese population. We found independent genetic risk factors in clinically distinct disease phenotypes: BTNL2 rs2076530 A allele in patients without Löfgren syndrome or with isolated thoracic disease, and HLA-DRB1*03 in Löfgren syndrome or disease resolution.
BTNL2 基因内的功能多态性已被描述为类粘蛋白样 2（BTNL2）基因，是肉状瘤病的潜在危险因素。慢性疾病与 rs2076530 SNP A 等位基因的相关性也有报道。本研究评估了 BTNL2 rs2076530 G/A 等位基因与葡萄牙患者肉状瘤病易感性和疾病演变的关系。对 151 例患者和 150 例对照进行了病例对照研究。在单变量分析中，用卡方检验比较等位基因频率，在多变量分析中用逻辑回归比较等位基因频率。BTNL2 rs206530 A 等位基因频率在无连锁不平衡的情况下，在肉状瘤病患者中明显升高，除了 Löfgren 综合征患者亚组中 HLA-DRB1 等位基因外，决定等位基因是 HLA-DRB103。在孤立性胸病患者中，A 等位基因也增加了，但是在放射学分期或疾病演变方面没有差异。除了与 Löfgren 综合征的关联外，HLA-DRB103 与疾病缓解也有显著的相关性。我们的数据证实了 BTNL2 rs2076530 A 等位基因与葡萄牙人群肉状瘤病易感性的关联。我们发现了具有临床不同疾病表型的独立遗传危险因素：在无 Löfgren 综合征或孤立性胸病的患者中，BTNL2 rs2076530 A 等位基因；在 Löfgren 综合征或疾病缓解中，HLA-DRB1*03。
