Gunavathy Nagarajan, Asirvatham Arthur, Chitra Ayyappan, Jayalakshmi Mariakuttikan
Department of Immunology, School of Biological Sciences, Madurai Kamaraj University, Madurai, Tamil Nadu, India.
Department of Diabetology, Government Rajaji Hospital, Madurai, Tamil Nadu, India.
Indian J Endocrinol Metab. 2023 May-Jun;27(3):223-229. doi: 10.4103/ijem.ijem_7_22. Epub 2023 Jun 26.
Type 1 diabetes (T1D) is a multifactorial autoimmune disease, involving strong genetic components with familial predisposition. Human leukocyte antigen-G (HLA-G) is a non-classical HLA-class I molecule having several immunomodulatory functions. Polymorphisms in are associated with several autoimmune diseases including T1D. This study aims to evaluate the association of 14bp Ins/Del and +3142 C/G polymorphisms with T1D among the South Indian population.
The study was performed in a cohort of 123 T1D patients along with their 51 siblings and 126 parents. The association and linkage of 14bp Ins/Del and +3142 C/G polymorphisms with T1D were analysed, and transmission disequilibrium test (TDT) was performed.
Significantly increased frequencies of 14bp Del/Del genotype (OR = 2.16, p = 0.0302) and Del allele (OR = 1.71, p = 0.0398) were observed in female patients compared to parents. Higher frequencies of DelDel/GG combined genotype (OR = 4.45, p = 0.0049) and Del/G haplotype (OR = 2.91, p = 0.0277) were observed in female patients compared to parents. TDT also revealed over-transmission of Del/G haplotype (25T vs 7UT; = 0.0015) and a strong linkage disequilibrium between the studied polymorphisms.
This familial study shows the association of 3'UTR 14bp Ins/Del polymorphism with the risk of T1D among the South Indian population, especially in females.
1型糖尿病（T1D）是一种多因素自身免疫性疾病，涉及具有家族易感性的强大遗传成分。人类白细胞抗原-G（HLA-G）是一种具有多种免疫调节功能的非经典HLA-I类分子。其多态性与包括T1D在内的多种自身免疫性疾病相关。本研究旨在评估南印度人群中14bp插入/缺失和+3142 C/G多态性与T1D的关联。
该研究在123例T1D患者及其51名兄弟姐妹和126名父母组成的队列中进行。分析了14bp插入/缺失和+3142 C/G多态性与T1D的关联和连锁，并进行了传递不平衡检验（TDT）。
与父母相比，女性患者中14bp缺失/缺失基因型（OR = 2.16，p = 0.0302）和缺失等位基因（OR = 1.71，p = 0.0398）的频率显著增加。与父母相比，女性患者中缺失/缺失/GG联合基因型（OR = 4.45，p = 0.0049）和缺失/G单倍型（OR = 2.91，p = 0.0277）的频率更高。TDT还显示缺失/G单倍型过度传递（25T对7UT； = 0.0015）以及所研究的多态性之间存在强连锁不平衡。
这项家族研究表明，3'UTR 14bp插入/缺失多态性与南印度人群中T1D的风险相关，尤其是在女性中。
