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1型糖尿病研究方法:现状报告。

Approaches in type 1 diabetes research: A status report.

作者信息

Raha Oindrila, Chowdhury Subhankar, Dasgupta Samir, Raychaudhuri P, Sarkar B N, Raju P Veer, Rao V R

机构信息

Anthropological Survey of India, 27-Jawaharlal Nehru Road, Kolkata, West-Bengal - 700 016, India.

出版信息

Int J Diabetes Dev Ctries. 2009 Apr;29(2):85-101. doi: 10.4103/0973-3930.53126.

Abstract

Type 1 diabetes is a multifactorial disease with an early age of onset, in which the insulin producing beta cell of the pancreas are destroyed because of autoimmunity. It is the second most common chronic disease in children and account for 5% to 10% of all diagnosed cases of diabetes. India is having an incidence of 10.6 cases/year/100,000, and recent studies indicate that the prevalence of type 1 diabetes in India is increasing. However in view of poor health care network, there is no monitoring system in the country. Of the 18 genomic intervals implicated for the risk to develop type 1 diabetes, the major histocompatibility complex (MHC) region on chromosome 6p21.31 has been the major contributor estimated to account for 40-50%, followed by 10% frequency of INS-VNTR at 5' flanking region of the insulin gene on chromosome 11p15.5. However, population studies suggest that > 95% of type 1 diabetes have HLA-DR3 or DR4, or both, and in family studies, sibling pairs affected with type 1 diabetes have a non-random distribution of shared HLA haplotypes. As predisposing genetic factors such as HLA alleles are known, immunological interventions to prevent type 1 diabetes are of great interest. In the present study we have reviewed the status of molecular genetics of the disease and the approaches that need to be adopted in terms of developing patient and suitable control cohorts in the country.

摘要

1型糖尿病是一种发病年龄较早的多因素疾病,其中胰腺中产生胰岛素的β细胞因自身免疫而被破坏。它是儿童中第二常见的慢性病,占所有确诊糖尿病病例的5%至10%。印度的发病率为每年每10万人中有10.6例,最近的研究表明,印度1型糖尿病的患病率正在上升。然而,鉴于医疗保健网络薄弱,该国没有监测系统。在与患1型糖尿病风险相关的18个基因组区间中,位于6号染色体p21.31的主要组织相容性复合体(MHC)区域是主要贡献者,估计占40-50%,其次是位于11号染色体p15.5的胰岛素基因5'侧翼区域的INS-VNTR频率为10%。然而,人群研究表明,超过95%的1型糖尿病患者具有HLA-DR3或DR4,或两者兼有,并且在家族研究中,患1型糖尿病的同胞对共享HLA单倍型的分布是非随机的。由于已知诸如HLA等位基因等易感遗传因素,预防1型糖尿病的免疫干预措施备受关注。在本研究中,我们回顾了该疾病的分子遗传学现状以及在该国建立患者和合适的对照队列方面需要采用的方法。

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