Centre For Medical Biotechnology, Maharshi Dayanand University, Rohtak, 124001, India.
Gastroenterology Department, PGIMS, Rohtak, 124001, India.
Cell Biochem Biophys. 2024 Sep;82(3):1797-1808. doi: 10.1007/s12013-024-01371-0. Epub 2024 Jun 22.
Celiac disease is an immune-mediated enteropathy with typical symptoms of weight loss, abdominal bloating, diarrhea, vomiting, or constipation. Many shreds of evidence show that CeD is hereditary in origin and various biochemical pathways have been connected to its etiology. Numerous genes from different physiological pathways have been investigated in the last few decades, however a comprehensive analysis is required to address the gaps and provide a more integrated understanding of how these genetic factors contribute to the pathogenesis of disease. Present study attempts to summarize the historical and up-to-date findings to understand the role of genetics in Celiac disease. The literature was searched from sources such as PubMed and Google Scholar to analyze studies conducted on celiac disease from the years 1995 to 2024. Term maps were created to examine the frequency of studies related to various terms to understand the major focus of the studies till date. The study also concise the different genetic polymorphisms studied in a table to understand the role of genetics in celiac diseases. Early studies on celiac disease primarily focused on its pathophysiology, prevalence, and general aspects, with limited attention to genetics. However, recent studies have increasingly emphasized the genetic basis of the disease and highlighting the involvement of various pathways like inflammation, T-cell differentiation and activation, epithelial barrier function, stress and apoptosis pathways. However, present study indicate that most current research predominantly focus on cytokines, specifically the TNF alpha gene. Consequently, there is a need for additional research to gain a more comprehensive understanding of the genetics of celiac disease.
乳糜泻是一种免疫介导的肠病，其典型症状为体重减轻、腹胀、腹泻、呕吐或便秘。大量证据表明，CeD 具有遗传起源，各种生化途径都与该病的病因有关。在过去的几十年里，人们研究了来自不同生理途径的许多基因，但需要进行全面分析，以填补空白并更全面地了解这些遗传因素如何导致疾病的发病机制。本研究试图总结历史和最新发现，以了解遗传学在乳糜泻中的作用。从 PubMed 和 Google Scholar 等来源搜索文献，以分析 1995 年至 2024 年期间针对乳糜泻进行的研究。创建术语图来检查与各种术语相关的研究的频率，以了解迄今为止研究的主要重点。该研究还将不同遗传多态性的研究总结在一个表格中，以了解遗传学在乳糜泻疾病中的作用。早期的乳糜泻研究主要集中在其病理生理学、流行率和一般方面，对遗传学的关注有限。然而，最近的研究越来越强调疾病的遗传基础，并强调了各种途径的参与，如炎症、T 细胞分化和激活、上皮屏障功能、应激和细胞凋亡途径。然而，目前的研究表明，大多数当前的研究主要集中在细胞因子上，特别是 TNF-α 基因。因此，需要进行更多的研究，以更全面地了解乳糜泻的遗传学。
