Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain.
Department of Epidemiology and Computational Biology, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain.
Sci Rep. 2020 Jan 29;10(1):1415. doi: 10.1038/s41598-020-58400-0.
MUC5B rs35705950 (G/T) is strongly associated with idiopathic pulmonary fibrosis (IPF) and also contributes to the risk of interstitial lung disease (ILD) in rheumatoid arthritis (RA-ILD) and chronic hypersensitivity pneumonitis (CHP). Due to this, we evaluated the implication of MUC5B rs35705950 in antisynthetase syndrome (ASSD), a pathology characterised by a high ILD incidence. 160 patients with ASSD (142 with ILD associated with ASSD [ASSD-ILD+]), 232 with ILD unrelated to ASSD (comprising 161 IPF, 27 RA-ILD and 44 CHP) and 534 healthy controls were genotyped. MUC5B rs35705950 frequency did not significantly differ between ASSD-ILD+ patients and healthy controls nor when ASSD patients were stratified according to the presence/absence of anti Jo-1 antibodies or ILD. No significant differences in MUC5B rs35705950 were also observed in ASSD-ILD+ patients with a usual interstitial pneumonia (UIP) pattern when compared to those with a non-UIP pattern. However, a statistically significant decrease of MUC5B rs35705950 GT, TT and T frequencies in ASSD-ILD+ patients compared to patients with ILD unrelated to ASSD was observed. In summary, our study does not support a role of MUC5B rs35705950 in ASSD. It also indicates that there are genetic differences between ILD associated with and that unrelated to ASSD.
MUC5B rs35705950（G/T）与特发性肺纤维化（IPF）强烈相关，也与类风湿关节炎（RA-ILD）和慢性过敏性肺炎（CHP）中的间质性肺病（ILD）风险相关。正因为如此，我们评估了 MUC5B rs35705950 在抗合成酶综合征（ASSD）中的意义，ASSD 是一种以高ILD 发生率为特征的疾病。我们对 160 名 ASSD 患者（142 名与 ASSD 相关的ILD [ASSD-ILD+]，232 名与 ASSD 无关的ILD，包括 161 名 IPF、27 名 RA-ILD 和 44 名 CHP）和 534 名健康对照进行了基因分型。ASSD-ILD+患者与健康对照组之间，以及根据是否存在抗 Jo-1 抗体或ILD 对 ASSD 患者进行分层时，MUC5B rs35705950 的频率均无显著差异。在具有寻常型间质性肺炎（UIP）模式的 ASSD-ILD+患者与不具有 UIP 模式的患者相比，MUC5B rs35705950 也没有显著差异。然而，与ILD 无关的 ASSD 患者相比，ASSD-ILD+患者的 MUC5B rs35705950 GT、TT 和 T 频率显著降低。综上所述，我们的研究不支持 MUC5B rs35705950 在 ASSD 中的作用。这也表明与 ASSD 相关和不相关的ILD 之间存在遗传差异。
