Kaur Navchetan, Minz Ranjana W, Anand Shashi, Saikia Biman, Aggarwal Ritu, Das Ashim, Thapa Babu R, Chawla Yogesh K
Department of Immunopathology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India.
Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India.
J Clin Exp Hepatol. 2014 Mar;4(1):14-8. doi: 10.1016/j.jceh.2013.12.002. Epub 2013 Dec 16.
Autoimmune hepatitis is a polygenic disorder of unknown etiology, where genetic factors affect the occurrence and clinical phenotype of the disease. It has been reported as a rare disease entity in the Indian subcontinent. This study was undertaken to investigate the association of HLA alleles with autoimmune hepatitis type 1 and type 2 in north Indian population and to analyze if distinct human leukocyte antigen (HLA) alleles help in characterization of the subtypes of autoimmune hepatitis.
Sixty-eight patients with autoimmune hepatitis and 128 healthy controls were recruited in the study. Out of 68 patients, 55 were diagnosed with autoimmune hepatitis type 1 and 13 with autoimmune hepatitis type 2. The patients and the controls were typed for HLA class II alleles by PCR-SSP method.
HLA DRB104 and DRB108 were found to be significantly associated with autoimmune hepatitis type 1 in north Indian population. It was also observed that DRB104, DRB113 were significantly associated with pediatric autoimmune hepatitis type 1 and DRB108 was significantly associated with adult autoimmune hepatitis type 1. DRB114 was significantly associated with autoimmune hepatitis type 2.
The study indicates that autoimmune hepatitis in north Indian population is associated with HLA alleles that may help to discriminate the subtypes as autoimmune hepatitis type 1 and type 2. The study also highlights the ethnic variations in the Indian subcontinent in context to the genetic association of HLA with autoimmune diseases.
自身免疫性肝炎是一种病因不明的多基因疾病，遗传因素影响该疾病的发生和临床表型。在印度次大陆，它被报道为一种罕见的疾病实体。本研究旨在调查印度北部人群中 HLA 等位基因与 1 型和 2 型自身免疫性肝炎的关联，并分析不同的人类白细胞抗原（HLA）等位基因是否有助于自身免疫性肝炎亚型的特征化。
本研究招募了 68 例自身免疫性肝炎患者和 128 例健康对照。在 68 例患者中，55 例被诊断为 1 型自身免疫性肝炎，13 例为 2 型自身免疫性肝炎。采用 PCR-SSP 方法对患者和对照进行 HLA Ⅱ类等位基因分型。
在印度北部人群中，发现 HLA DRB104 和 DRB108 与 1 型自身免疫性肝炎显著相关。还观察到 DRB104、DRB113 与儿童 1 型自身免疫性肝炎显著相关，DRB108 与成人 1 型自身免疫性肝炎显著相关。DRB114 与 2 型自身免疫性肝炎显著相关。
该研究表明，印度北部人群中的自身免疫性肝炎与 HLA 等位基因相关，这些等位基因可能有助于区分 1 型和 2 型自身免疫性肝炎亚型。该研究还强调了在印度次大陆，HLA 与自身免疫性疾病的遗传关联方面的种族差异。
