Muruganantham Jethendra Kumar, Veerabathiran Ramakrishnan
Human Cytogenetics and Genomics Laboratory, Faculty of Allied Health Sciences, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam, Tamilnadu 603103, India.
Human Cytogenetics and Genomics Laboratory, Faculty of Allied Health Sciences, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam, Tamilnadu 603103, India.
Hematol Transfus Cell Ther. 2025 Apr-Jun;47(2):103737. doi: 10.1016/j.htct.2025.103737. Epub 2025 Mar 12.
Anemia affects around 1.6 billion people worldwide and presents a significant challenge for healthcare providers. Despite the hemoglobin concentration being commonly used for diagnosis, identifying underlying causes remains challenging, particularly in vulnerable groups like children under five and pregnant women. Genetic factors, notably variations in the TMPRSS6 gene, are implicated in iron deficiency anemia, yet the precise relationship with anemia remains unclear.
A thorough literature search was conducted across databases, including Embase, Google Scholar, and PubMed, focusing on studies investigating TMPRSS6 gene polymorphisms and anemia. Thirteen eligible studies, comprising 2082 cases and 2684 controls, underwent meta-analysis using Review Manager 5.4 software. Various genetic models were assessed, including allelic, homozygous, heterozygous, dominant, and recessive, with no significant relationship found between the TMPRSS6 rs855791 polymorphism and anemia.
This meta-analysis provides robust evidence suggesting no significant association between the TMPRSS6 rs855791gene polymorphism and anemia. These findings underscore the complexity of genetic factors contributing to anemia and emphasize the importance of the further investigation to unravel the mechanisms underlying this relationship for improved diagnostic and therapeutic approaches.
贫血影响着全球约16亿人,给医疗服务提供者带来了重大挑战。尽管血红蛋白浓度常用于诊断,但确定潜在病因仍具有挑战性,尤其是在五岁以下儿童和孕妇等弱势群体中。遗传因素,特别是TMPRSS6基因的变异,与缺铁性贫血有关,但与贫血的确切关系仍不清楚。
对包括Embase、谷歌学术和PubMed在内的数据库进行了全面的文献检索,重点是研究TMPRSS6基因多态性与贫血的研究。使用Review Manager 5.4软件对13项符合条件的研究进行荟萃分析,这些研究包括2082例病例和2684例对照。评估了各种遗传模型,包括等位基因、纯合子、杂合子、显性和隐性模型,未发现TMPRSS6 rs855791多态性与贫血之间存在显著关系。
这项荟萃分析提供了有力证据,表明TMPRSS6 rs855791基因多态性与贫血之间无显著关联。这些发现强调了导致贫血的遗传因素的复杂性,并强调了进一步研究以阐明这种关系背后的机制以改进诊断和治疗方法的重要性。