对位于1q23.3上编码硫胺素转运蛋白的slc19a2基因进行分析，将其作为皮马印第安人2型糖尿病的候选基因。

Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians.

作者信息

Thameem F, Wolford J K, Bogardus C, Prochazka M

机构信息

Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, 4212 North 16th Street, Phoenix, Arizona 85016, USA.

出版信息

Mol Genet Metab. 2001 Apr;72(4):360-3. doi: 10.1006/mgme.2001.3154.

DOI:10.1006/mgme.2001.3154

PMID:11286512

Abstract

Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia (TRMA) frequently combined with diabetes mellitus and deafness. Type 2 diabetes mellitus is heritable and a region on 1q21-q23 encompassing SLC19A2 was linked with the disease in Pima Indians and Caucasians. We therefore investigated this candidate gene in selected diabetic and nondiabetic Pimas and found no variants. We conclude that mutations in SLC19A2 do not contribute to type 2 diabetes in this population.

摘要

SLC19A2基因的突变会导致硫胺素反应性巨幼细胞贫血（TRMA），常伴有糖尿病和耳聋。2型糖尿病具有遗传性，在皮马印第安人和高加索人中，1q21-q23区域包含SLC19A2基因，该区域与该疾病有关联。因此，我们在选定的糖尿病和非糖尿病皮马人中对这个候选基因进行了研究，未发现变异。我们得出结论，在这一人群中，SLC19A2基因的突变与2型糖尿病无关。