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Clin Infect Dis. 2020 Aug 14;71(4):924-932. doi: 10.1093/cid/ciz898.
2
Polymorphisms in Gene Are Associated with Type 1 Diabetes.基因中的多态性与 1 型糖尿病有关。
J Diabetes Res. 2019 Jul 14;2019:7405120. doi: 10.1155/2019/7405120. eCollection 2019.
3
Association between Toll-like receptors (TLR) and NOD-like receptor (NLR) polymorphisms and lipid and glucose metabolism.Toll 样受体 (TLR) 和 NOD 样受体 (NLR) 多态性与脂质和糖代谢的关系。
Gene. 2019 Feb 15;685:211-221. doi: 10.1016/j.gene.2018.11.065. Epub 2018 Nov 24.
4
Epigenetic regulation of Toll-like receptors and its roles in type 1 diabetes.Toll 样受体的表观遗传调控及其在 1 型糖尿病中的作用。
J Mol Med (Berl). 2018 Aug;96(8):741-751. doi: 10.1007/s00109-018-1660-7. Epub 2018 Jul 12.
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Incidence Trends of Type 1 and Type 2 Diabetes among Youths, 2002-2012.2002 - 2012年间青少年1型和2型糖尿病的发病率趋势
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Genetic risk factors for type 1 diabetes.1 型糖尿病的遗传风险因素。
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IL-1 receptor antagonist ameliorates inflammasome-dependent inflammation in murine and human cystic fibrosis.白细胞介素-1受体拮抗剂可改善小鼠和人类囊性纤维化中炎性小体依赖性炎症。
Nat Commun. 2016 Mar 14;7:10791. doi: 10.1038/ncomms10791.
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Molecular Characterization of the NLRC4 Expression in Relation to Interleukin-18 Levels.NLRC4表达与白细胞介素-18水平关系的分子特征分析
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该基因的多态性与1型糖尿病患者的发病年龄、谷氨酸脱羧酶自身抗体（GADA）阳性率及餐后2小时C肽有关。

Polymorphisms of the Gene are Associated with the Onset Age, Positive Rate of GADA and 2-h Postprandial C-Peptide in Patients with Type 1 Diabetes.

作者信息

Xu Linling, Sun Xiaoxiao, Xia Ying, Luo Shuoming, Lin Jian, Xiao Yang, Liu Yue, Wang Yanfei, Huang Gan, Li Xia, Xie Zhiguo, Zhou Zhiguang

机构信息

Department of Metabolism and Endocrinology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.

Key Laboratory of Diabetes Immunology, Central South University, Ministry of Education, National Clinical Research Center for Metabolic Diseases, Changsha, Hunan, People's Republic of China.

出版信息

Diabetes Metab Syndr Obes. 2020 Mar 19;13:811-818. doi: 10.2147/DMSO.S244882. eCollection 2020.

DOI:10.2147/DMSO.S244882
PMID:32256096
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7090150/
Abstract

PURPOSE

The purpose of this study was to clarify the association between the gene and the susceptibility and clinical characteristics of type 1 diabetes (T1D) in a Chinese Han population.

PATIENTS AND METHODS

A case-control study was performed in a Chinese Han population including 510 classical T1D patients and 531 healthy controls. rs212704 and rs385076 of the gene were genotyped by MassARRAY. The frequency distributions of alleles and genotypes of polymorphisms in the gene were compared by logistic regression and the chi-square test. The relationships between the polymorphisms of the gene and various clinical characteristics were analyzed by Kruskal-Wallis one-way ANOVA. The statistical power was calculated by Quanto software.

RESULTS

  1. rs385076 of the gene was significantly correlated with the onset age of T1D patients and the positive rate of GADA. The relationship between rs212704 and 2-h postprandial C-peptide was statistically significant. 2) There was no significant difference in the frequency distributions of the genotypes and alleles of rs212704 and rs385076 between T1D patients and controls. 3) rs212704 and rs385076 were not correlated with T1D susceptibility under different genetic models.

CONCLUSION

rs212704 was associated with 2-h postprandial C-peptide, while rs385076 of the gene was associated with the onset age and positive rate of GADA in patients with T1D.

摘要

目的

本研究旨在阐明该基因与中国汉族人群1型糖尿病（T1D）易感性及临床特征之间的关联。

患者与方法

在中国汉族人群中开展了一项病例对照研究，纳入510例经典T1D患者和531名健康对照。采用MassARRAY对该基因的rs212704和rs385076进行基因分型。通过逻辑回归和卡方检验比较该基因多态性的等位基因和基因型频率分布。采用Kruskal-Wallis单因素方差分析该基因多态性与各种临床特征之间的关系。运用Quanto软件计算统计效能。

结果

1）该基因的rs385076与T1D患者的发病年龄及谷氨酸脱羧酶自身抗体（GADA）阳性率显著相关。rs212704与餐后2小时C肽之间的关系具有统计学意义。2）T1D患者与对照组之间rs212704和rs385076的基因型和等位基因频率分布无显著差异。3）在不同遗传模型下，rs212704和rs385076与T1D易感性无关。

结论

rs212704与餐后2小时C肽相关，而该基因的rs385076与T1D患者的发病年龄及GADA阳性率相关。