PMID- 12903035
OWN - NLM
STAT- MEDLINE
DCOM- 20090303
LR  - 20030806
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 20
IP  - 4
DP  - 2003 Aug
TI  - [Study of functional L1 retrotransposon in human type 2 diabetes susceptibility 
      loci].
PG  - 287-91
AB  - OBJECTIVE: To investigate the susceptibility gene of type 2 diabetes mellitus 
      (T2DM) through a novel strategy. METHODS: Firstly, the common feature of the 
      putative susceptibility genes in the reported susceptibility loci was searched by 
      using NCBI BLAST, and a functional L1 retrotransposon in the loci was found. 
      Secondly, the mRNA expression level of the functional L1 retrotransposon in 25 
      Han T2DM patients and 22 normal controls was investigated by reverse 
      transcription-polymerase chain reaction, and statistical analysis was implemented 
      in statistical package SPSS10.0. Thirdly, L1 retrotransponson genome mutation 
      screening was performed via sequencing. RESULTS: Screening the human genome for 
      the retrotransposon genome via alignment with the L1 genome using NCBI BLAST 
      showed the functional L1 retrotransposons distribute on most chromosomes except 
      for chromosomes 19, 21 and Y on which rare type 2 diabetes susceptibility loci 
      were reported to reside, and their distribution sites are consistent with the 
      locations of the reported candidate type 2 diabetes susceptibility loci. The mRNA 
      expression level of the functional L1 retrotransposon in the T2DM patients was 
      significantly lower than that in normal subjects (P<0.001). Nonsense mutations 
      including deletion and/or point mutations were observed in all of the 6 T2DM 
      patients tested, but no mutation was observed in all of the 4 normal controls 
      tested. CONCLUSION: The functional L1 retrotransposon may be a candidate 
      susceptibility gene of type 2 diabetes or a key regulator of the susceptibility 
      genes, and it may be an ideal candidate biomarker for screening type 2 diabetes.
FAU - Ge, Sheng-jie
AU  - Ge SJ
AD  - Department of Endocrinology and Metabolism, the First Affiliated Hospital, 
      Wenzhou Medical College, Wenzhou, Zhejiang, 325000 PR China. 
      geshengjie@hotmail.com
FAU - Ren, Yue-zhong
AU  - Ren YZ
FAU - Xu, Rong-zhen
AU  - Xu RZ
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - 0 (Retroelements)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human/genetics
MH  - Databases, Genetic
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genome, Human/genetics
MH  - Genotype
MH  - Humans
MH  - Polymerase Chain Reaction
MH  - Retroelements/*genetics
EDAT- 2003/08/07 05:00
MHDA- 2009/03/04 09:00
CRDT- 2003/08/07 05:00
PHST- 2003/08/07 05:00 [pubmed]
PHST- 2009/03/04 09:00 [medline]
PHST- 2003/08/07 05:00 [entrez]
AID - 940602078 [pii]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Aug;20(4):287-91.