Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes.

ABSTRACT:

Aims/introduction

Although genome-wide association studies have identified more than 50 susceptibility genes for type 1 diabetes, low-frequency risk variants could remain unrecognized. The present study aimed to identify novel type 1 diabetes susceptibility genes by newly established methods.

Materials and methods

We carried out whole-exome sequencing and genome-wide copy-number analysis for a Japanese family consisting of two patients with type 1 diabetes and three unaffected relatives. Further mutation screening was carried out for 127 sporadic cases. The functional consequences of identified substitutions were evaluated by in silico analyses and fluorescence-activated cell sorting of blood samples.

Results

Whole-exome sequencing and genome-wide copy-number analysis

SUBMITTER: Okuno M 

PROVIDER: S-EPMC5415474 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature