Yale School of Medicine.
Vanderbilt School of Medicine.
Sarcoidosis Vasc Diffuse Lung Dis. 2020;37(3):e2020003. doi: 10.36141/svdld.v37i3.9273. Epub 2020 Sep 30.
Macrophage migration inhibitory factor (MIF) is an inflammatory cytokine, and increased expression has been associated with the development and severity of multiple granulomatous, autoimmune diseases. However, association studies have been discordant in sarcoidosis.
To evaluate associations between macrophage migration inhibitory factor () promoter polymorphisms and sarcoidosis susceptibility and severity.
Three hundred and fifty one patients with sarcoidosis were recruited through the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study. Genomic DNA was isolated from serum, and the 173G/C SNP [] and -794 CATT microsatellite repeat [] were genotyped. Allelic frequencies were compared between cases and healthy controls and associations between alleles and sarcoidosis severity were assessed.
The frequencies of the high expression -173C SNP and the low expression -794 CATT containing genotypes in white and black sarcoidosis patients were the same as those of healthy controls. High expression alleles were not associated with sarcoidosis severity. Associations between alleles and extrapulmonary sarcoidosis phenotypes were limited by small sample sizes.
High expression genotypes were not associated with the susceptibility to or severity of pulmonary sarcoidosis in a large North American cohort. .
巨噬细胞移动抑制因子（MIF）是一种炎症细胞因子，其表达增加与多种肉芽肿性、自身免疫性疾病的发生和严重程度有关。然而，在结节病中，相关性研究结果并不一致。
评估巨噬细胞移动抑制因子（）启动子多态性与结节病易感性和严重程度的相关性。
通过“Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis（GRADS）研究”招募了 351 名结节病患者。从血清中提取基因组 DNA，并对 173G/C SNP（）和-794 CATT 微卫星重复（）进行基因分型。比较病例组和对照组之间等位基因的频率，并评估等位基因与结节病严重程度之间的关系。
白人及黑人结节病患者中高表达-173C SNP 和低表达-794 CATT 基因型的频率与健康对照组相同。高表达等位基因与结节病严重程度无关。由于样本量较小，等位基因与肺外结节病表型之间的相关性受到限制。
在一个大型北美队列中，高表达基因型与肺结节病的易感性或严重程度无关。
