PMID- 21754918
OWN - NLM
STAT- MEDLINE
DCOM- 20111103
LR  - 20240323
IS  - 1687-5303 (Electronic)
IS  - 1687-5214 (Print)
IS  - 1687-5214 (Linking)
VI  - 2011
DP  - 2011
TI  - Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 
      diabetes mellitus.
PG  - 498460
LID - 10.1155/2011/498460 [doi]
LID - 498460
AB  - 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.
FAU - Kudo, Hirohito
AU  - Kudo H
AD  - Division of Molecular Metabolism and Diabetes, Tohoku University Graduate School 
      of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.
FAU - Emi, Mitsuru
AU  - Emi M
FAU - Ishigaki, Yasushi
AU  - Ishigaki Y
FAU - Tsunoda, Uiko
AU  - Tsunoda U
FAU - Hinokio, Yoshinori
AU  - Hinokio Y
FAU - Ishii, Miho
AU  - Ishii M
FAU - Sato, Hidenori
AU  - Sato H
FAU - Yamada, Tetsuya
AU  - Yamada T
FAU - Katagiri, Hideki
AU  - Katagiri H
FAU - Oka, Yoshitomo
AU  - Oka Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110620
PL  - United States
TA  - Exp Diabetes Res
JT  - Experimental diabetes research
JID - 101274844
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Aged, 80 and over
MH  - Asian People/ethnology/genetics
MH  - Case-Control Studies
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - DNA Copy Number Variations/*genetics
MH  - Diabetes Mellitus, Type 2/*epidemiology/ethnology/*genetics
MH  - Genetic Predisposition to Disease/genetics
MH  - Genetic Testing
MH  - Genome-Wide Association Study/methods
MH  - Humans
MH  - Japan
MH  - Middle Aged
MH  - Telomere/*genetics
PMC - PMC3132460
EDAT- 2011/07/15 06:00
MHDA- 2011/11/04 06:00
PMCR- 2011/06/20
CRDT- 2011/07/15 06:00
PHST- 2010/10/06 00:00 [received]
PHST- 2011/02/21 00:00 [revised]
PHST- 2011/03/30 00:00 [accepted]
PHST- 2011/07/15 06:00 [entrez]
PHST- 2011/07/15 06:00 [pubmed]
PHST- 2011/11/04 06:00 [medline]
PHST- 2011/06/20 00:00 [pmc-release]
AID - 10.1155/2011/498460 [doi]
PST - ppublish
SO  - Exp Diabetes Res. 2011;2011:498460. doi: 10.1155/2011/498460. Epub 2011 Jun 20.