Genetics of type 1 diabetes in Asian and Caucasian populations
Genetics of type 1 diabetes in Asian and Caucasian populations
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DOI：
10.1016/j.diabres.2007.01.044
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发表时间：
2007-09-01
影响因子：
5.1
通讯作者：
Ogihara, Toshio
中科院分区：
文献类型：
--
作者：
Ikegami, Hiroshi;Kawabata, Yumiko;Ogihara, Toshio
在I型糖尿病的候选基因中，人类白细胞抗原、INS、CTLA4、PTPN22和SUM04已被证明与高加索人群的疾病相关。为了阐明这些基因在亚洲人和高加索人人群中对1型糖尿病的作用的异同，在日本和韩国人群中对这些基因与1型糖尿病的关联进行了大量样本研究。在亚洲和高加索人群中，11型人类白细胞抗原与1型糖尿病密切相关，但由于各人群中单倍型的存在和缺失的不同，与1型糖尿病相关的单倍型明显不同。在日本人和高加索人中，INS一直与1型糖尿病相关，但在日本普通人群中，与疾病相关的单倍型频率明显较高。在日本，CTLA4仅在1型糖尿病合并AITD的患者中与1型糖尿病相关。在高加索人中，PTPN22的一个变异(R620W)与1型糖尿病和其他自身免疫性疾病有关，但该变异在亚洲人中缺失。在亚洲人中，SUM04与1型糖尿病有关，但在高加索人中不相关，这表明不同种族之间存在基因异质性。在亚洲和高加索人群中进行大量样本的跨种族研究将有助于1型糖尿病的基因解剖和致病变异的识别。(C)2007爱思唯尔爱尔兰有限公司。保留所有权利。
Among candidate genes for type I diabetes, HLA, INS, CTLA4, PTPN22 and SUM04 have been shown to be associated with the disease in Caucasian populations. To clarify the similarities and differences in the contribution of these genes to type 1 diabetes between Asian and Caucasian populations, association of these genes with type 1 diabetes was studied in a large number of samples in Japanese and Korean populations. Class 11 HLA was strongly associated with type 1 diabetes in both Asian and Caucasian populations, but haplotypes associated with type 1 diabetes were markedly different due to difference in the presence and absence of haplotypes in each population. INS was consistently associated with type 1 diabetes in both Japanese and Caucasian populations, but frequency of disease-associated haplotype was markedly high in Japanese general population. CTLA4 was associated with type 1 diabetes only in a subset of patients with type 1 diabetes complicated with AITD in Japanese. A variant (R620W) of PTPN22 was associated with type 1 diabetes and other autoimmune diseases in Caucasians, but the variant was absent in Asians. SUM04 was associated with type 1 diabetes in Asians, but not in Caucasian, suggesting a genetic heterogeneity among diverse ethnic groups. Trans-racial study with a large number of samples in both Asian and Caucasian populations will contribute to genetic dissection of type 1 diabetes and identification of causative variants. (c) 2007 Elsevier Ireland Ltd. All rights reserved.