Variants of neurogenin 3 gene are not associated with Type II diabetes in Japanese subjects.
OBJECTIVE
Neurogenin 3 (ngn3) is a transcription factor expressed in the endocrine precursor cells of the pancreas. It has recently been reported that ngn3-deficient mice show absence of pancreatic endocrine cells and die of postnatal diabetes. The purpose of this investigation was to screen for polymorphisms of the ngn3 gene and to test whether these polymorphisms are associated with Type II (non-insulin-dependent) diabetes mellitus in the Japanese subjects.


METHODS
We screened ngn3 gene and upstream region by direct sequencing and estimated the prevalence of polymorphisms in 197 patients with Type II (non-insulin-dependent) diabetes mellitus and 216 control subjects.


RESULTS
We identified four novel polymorphisms, Ser199Phe (596C/T), -43insCA, -983C/T and -1822G/A. In an association study the allelic frequencies of the major allele of these four polymorphisms were 0.721, 0.914, 0.912 and 0.530 in diabetic patients, respectively, and 0.694, 0.905, 0.917 and 0.537 in control subjects, respectively.


CONCLUSIONS
Mutations and polymorphisms of ngn3 gene are not significantly associated with Type II (non-insulin-dependent) diabetes mellitus in the Japanese subjects.
Department of Metabolic Diseases, Graduate School of Medicine, University of Tokyo, Japan.
T
T
Okada
K
K
Tobe
K
K
Hara
K
K
Yasuda
Y
Y
Kawaguchi
H
H
Ikegami
C
C
Ito
T
T
Kadowaki
D000368:Aged; D051792:Basic Helix-Loop-Helix Proteins; D003062:Codon; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000178:diet therapy / Q000188:drug therapy / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007328:Insulin / Q000627:therapeutic use; D007438:Introns; D007564:Japan; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
D051792:Basic Helix-Loop-Helix Proteins; D003062:Codon; D007004:Hypoglycemic Agents; D007328:Insulin; D009419:Nerve Tissue Proteins; C498695:NEUROG3 protein, human