Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus

Hirohito Kudo, Mitsuru Emi, Yasushi Ishigaki, Uiko Tsunoda, Yoshinori Hinokio, Miho Ishii, Hidenori Sato, Tetsuya Yamada, Hideki Katagiri, Yoshitomo Oka

研究成果: Article査読

8 被引用数 (Scopus)

抄録

A small portion of Type 2 diabetes mellitus (T2DM) is familial, but the majority occurs as sporadic disease. Although causative genes are found in some rare forms, the genetic basis for sporadic T2DM is largely unknown. We searched for a copy number abnormality in 100 early-onset Japanese T2DM patients (onset age <35 years) by whole-genome screening with a copy number variation BeadChip. Within the 1.3-Mb subtelomeric region on chromosome 4p16.3, we found copy number losses in early-onset T2DM (13 of 100 T2DM versus one of 100 controls). This region surrounds a genome gap, which is rich in multiple low copy repeats. Subsequent region-targeted high-density custom-made oligonucleotide microarray experiments verified the copy number losses and delineated structural changes in the 1.3-Mb region. The results suggested that copy number losses of the genes in the deleted region around the genome gap in 4p16.3 may play significant roles in the etiology of T2DM.

本文言語English
論文番号498460
ジャーナルExperimental Diabetes Research
2011
DOI
出版ステータスPublished - 2011

ASJC Scopus subject areas

  • 内分泌学、糖尿病および代謝内科学

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