We previously reported that a missense mutation at codon 121 (CGG( @entity534 ) to TGG(Trp), @entity70472 ) of @entity15867 may be associated with the onset of @entity164 2 @entity6 in Japanese. In this study, we determined the frequency of the @entity70472 mutation of @entity15867 and characterized the prodiabetic phenotype in a population-based study. Healthy 372 residents participated in annual health check-ups in Nishihara (Okinawa, Japan) and unrelated 193 @entity164 2 @entity6 @entity1 from the outpatient clinic of Ryukyu University Hospital were enrolled. Diagnosis of @entity6 was based on the 1997 American @entity6 Association criteria. The @entity70472 mutation in @entity15867 was genotyped by PCR-RFLP analysis. In healthy residents, @entity70472 mutation was detected in 12 of 372 residents (3.1%). The prevalence of newly diagnosed @entity164 3 @entity6 (25% vs. 5%, p=0.004) and HbA(1c) (5.6+/-1.9 vs. 5.1+/-0.7, p=0.026) was higher in the variants than in the wild-types. The odds ratio of @entity6 in the @entity70472 variants was 5.98 with 95% confidence interval from 1.50 to 23.9. The @entity70472 mutation was observed in 12 of the 193 @entity164 2 @entity6 @entity1 (6.2%). Onset-ages of @entity6 were earlier (37+/-10 vs. 47+/-13 years, p=0.010) and the rate of @entity2690 user was two times higher (83% vs. 41%, p=0.005) in the variants. The @entity70472 mutation in @entity15867 is a predisposing factor for the development of @entity164 2 @entity6 in Okinawans.

@entity15867 mutation ( XXXX ) as a prodiabetic variant in Okinawans.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity6 :: ('MESH:D003920', 'Disease') :: ['Diabetes', 'diabetic', 'diabetes'] @entity2690 :: ('3630', 'Gene') :: ['insulin'] @entity70472 :: ('p|SUB|R|121|W', 'ProteinMutation') :: ['R121W'] @entity534 :: ('CHEBI:16467', 'Chemical') :: ['Arg'] @entity164 :: ('MESH:D017827', 'Disease') :: ['type'] @entity15867 :: ('5078', 'Gene') :: ['PAX4']
@entity70472 :: (p|SUB|R|121|W,ProteinMutation) :: ['R121W']
