Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, 305-8575, Japan.
Clinical Research Center for Allergy and Rheumatology, National Hospital Organization Sagamihara National Hospital, 18-1 Sakuradai, Minami-ku, Sagamihara, 252-0392, Japan.
J Hum Genet. 2018 Jun;63(6):739-744. doi: 10.1038/s10038-018-0440-0. Epub 2018 Mar 20.
Several studies reported that autoimmune diseases share a number of susceptibility genes. Of these genes, a SNP rs7708392 in TNIP1 was reported to be associated with systemic lupus erythematosus (SLE). Autoimmune hepatitis (AIH), a rare chronic progressive liver disease, shares some clinical features with SLE. Therefore, we investigated whether the SNP is associated with Japanese AIH. An association study of rs7708392 was conducted in 343 Japanese AIH patients and 828 controls. We found that rs7708392 is associated with AIH (P = 0.0236, odds ratio (OR) 1.26, 95% confidence interval (CI): 1.03-1.54), under the allele model for C allele. Significant differences of clinical characteristics of the AIH patients with or without G allele of rs7708392 were not detected. Of interest, the association was stronger in AIH without HLA-DRB104:05 allele (P = 0.0063, Q = 0.0127, OR 1.48, 95% CI: 1.12-1.96), though the association was not detected in AIH with DRB104:05. The C allele of rs7708392 was associated with AIH, especially AIH without DRB1*04:05, an already established risk factor.
几项研究报道称，自身免疫性疾病共有一些易感基因。在这些基因中，TNIP1 中的 SNP rs7708392 被报道与系统性红斑狼疮（SLE）有关。自身免疫性肝炎（AIH）是一种罕见的慢性进行性肝脏疾病，与 SLE 有一些共同的临床特征。因此，我们研究了该 SNP 是否与日本 AIH 有关。对 rs7708392 的关联研究在 343 例日本 AIH 患者和 828 例对照中进行。我们发现 rs7708392 与 AIH 相关（P=0.0236，优势比（OR）1.26，95%置信区间（CI）：1.03-1.54），在 C 等位基因的等位基因模型下。未检测到 rs7708392 中 G 等位基因的 AIH 患者的临床特征有显著差异。有趣的是，在没有 HLA-DRB104:05 等位基因的 AIH 中，这种关联更强（P=0.0063，Q=0.0127，OR 1.48，95%CI：1.12-1.96），尽管在具有 DRB104:05 的 AIH 中未检测到这种关联。rs7708392 的 C 等位基因与 AIH 相关，尤其是与已确定的风险因素 DRB1*04:05 无关的 AIH。
