1型糖尿病高危儿童胰岛自身免疫的补体系统蛋白基因图谱。
Genetic mapping of complement system proteins for islet autoimmunity in children with high risk of T1D.
作者信息
Hu Xiaowei, Webb-Robertson Bobbie-Jo M, Parikh Hemang M, Nakayasu Ernesto S, Onengut-Gumuscu Suna, Chen Wei-Min, Frazer-Abel Ashley, Metz Thomas O, Rich Stephen S, Rewers Marian J, Manichaikul Ani
机构信息
Department of Genome Sciences, University of Virginia, Charlottesville, VA, USA.
Biological Sciences Division, Pacific Northwest National Laboratory, Richland, WA, USA.
出版信息
Commun Biol. 2025 Sep 26;8(1):1366. doi: 10.1038/s42003-025-08739-9.
Recent studies have reported the involvement of complement system proteins in the initiation and progression of islet autoimmunity (IA) in the study of Type 1 diabetes (T1D). However, the genetic factors of complement system proteins at the time of triggering of IA are unknown. Through complement system protein quantitative trait locus (pQTL) mapping discovery analysis of 170 participants from the Diabetes Autoimmunity Study in the Young (DAISY) and replication analysis of 385 IA cases from The Environment Determinants of Diabetes in the Young (TEDDY) study, we identify 68 significant pQTLs in total for C8A, C8B, CFB, C4A, and MBL2. Furthermore, all replicated pQTLs of CFB and C4A are previously reported to be associated with T1D risk. Our study provides evidence for the potential biological roles of complement system proteins in the etiology of IA and T1D for young children at high risk of developing T1D.
最近的研究报告称，在1型糖尿病（T1D）的研究中，补体系统蛋白参与了胰岛自身免疫（IA）的起始和进展。然而，IA触发时补体系统蛋白的遗传因素尚不清楚。通过对来自青少年糖尿病自身免疫研究（DAISY）的170名参与者进行补体系统蛋白数量性状基因座（pQTL）定位发现分析，并对来自青少年糖尿病环境决定因素（TEDDY）研究的385例IA病例进行重复分析，我们总共鉴定出C8A、C8B、CFB、C4A和MBL2的68个显著pQTL。此外，先前报道CFB和C4A的所有重复pQTL都与T1D风险相关。我们的研究为补体系统蛋白在IA病因学以及高T1D发病风险幼儿的T1D病因学中的潜在生物学作用提供了证据。
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