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A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.一项针对六个 1 型糖尿病队列的全基因组荟萃分析确定了多个相关位点。
PLoS Genet. 2011 Sep;7(9):e1002293. doi: 10.1371/journal.pgen.1002293. Epub 2011 Sep 29.
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Diagnosis and classification of diabetes mellitus.糖尿病的诊断与分类
Diabetes Care. 2010 Jan;33 Suppl 1(Suppl 1):S62-9. doi: 10.2337/dc10-S062.
3
Chromosomal region 16p13: further evidence of increased predisposition to immune diseases.16p13 号染色体区域:免疫性疾病易感性增加的进一步证据。
Ann Rheum Dis. 2010 Jan;69(1):309-11. doi: 10.1136/ard.2008.098376.
4
Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia.在撒丁岛,CLEC16A基因内的变异显示出与多发性硬化症和1型糖尿病均存在一致的疾病关联。
Genes Immun. 2009 Jan;10(1):15-7. doi: 10.1038/gene.2008.84. Epub 2008 Oct 23.
5
Association of type 1 diabetes with two Loci on 12q13 and 16p13 and the influence coexisting thyroid autoimmunity in Japanese.1型糖尿病与12q13和16p13上两个基因座的关联以及共存的甲状腺自身免疫在日本人中的影响。
J Clin Endocrinol Metab. 2009 Jan;94(1):231-5. doi: 10.1210/jc.2008-0718. Epub 2008 Oct 21.
6
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.一项全基因组关联研究将KIAA0350鉴定为1型糖尿病基因。
Nature. 2007 Aug 2;448(7153):591-4. doi: 10.1038/nature06010. Epub 2007 Jul 15.
7
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.对14000例七种常见疾病患者及3000例共享对照进行全基因组关联研究。
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8
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.通过全基因组分析得出的1型糖尿病四个新染色体区域的强关联。
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9
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10
Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms.利用标签单核苷酸多态性将1型糖尿病基因座定位到IL2RA/CD25区域
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CLEC16A 基因与中国儿童 1 型糖尿病遗传易感性的相关性。

The Correlation between the CLEC16A Gene and Genetic Susceptibility to Type 1 Diabetes in Chinese Children.

机构信息

National Key Discipline of Pediatrics, Ministry of Education and Department of Endocrinology, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.

出版信息

Int J Endocrinol. 2012;2012:245384. doi: 10.1155/2012/245384. Epub 2012 Jun 20.

DOI:10.1155/2012/245384
PMID:22778732
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3388293/
Abstract

Objective. The CLEC16A gene is related to the genetic susceptibility to T1DM with racial variability. This study investigated the association between CLEC16A gene polymorphisms and T1DM in Chinese children. Methods. 131 Chinese children with T1DM were selected for study, and 121 healthy adult blood donors were selected as normal controls. PCR and mass spectrometry was used to study the distributions of 17 CLEC16A alleles in patients and controls. The relationship between CLEC16A gene polymorphisms and T1DM was studied. Results. The distributions of two polymorphisms (rs12921922, rs12931878) of CLEC16A in T1DM and healthy controls were significantly different, while the distributions of other CLEC16A polymorphisms show no significant differences. The alleles of rs12921922 are C and T. The frequency of the T allele was significantly increased in patients versus healthy controls. The alleles of rs12931878 are A and C. The frequencies of the A allele are significantly increased in T1DM patients versus healthy controls. Conclusion. Two polymorphisms in the CLEC16A gene correlate with increased susceptibility to T1DM in Chinese children, revealing that it was another new gene that correlates with susceptibility to T1DM in multiple populations.

摘要

目的

CLEC16A 基因与 T1DM 的遗传易感性有关,且具有种族变异性。本研究旨在探讨 CLEC16A 基因多态性与中国儿童 T1DM 之间的关系。

方法

选择 131 例 T1DM 患儿作为研究对象,121 例健康成人献血者作为正常对照。采用 PCR 和质谱技术研究患者和对照组中 17 个 CLEC16A 等位基因的分布。研究 CLEC16A 基因多态性与 T1DM 的关系。

结果

CLEC16A 的两个多态性(rs12921922、rs12931878)在 T1DM 和健康对照组中的分布差异有统计学意义,而其他 CLEC16A 多态性的分布差异无统计学意义。rs12921922 的等位基因为 C 和 T。T 等位基因在患者中的频率明显高于健康对照组。rs12931878 的等位基因为 A 和 C。A 等位基因在 T1DM 患者中的频率明显高于健康对照组。

结论

CLEC16A 基因的两个多态性与中国儿童 T1DM 的易感性增加相关,表明它是与多种人群 T1DM 易感性相关的另一个新基因。