PMID- 12951629
OWN - NLM
STAT- MEDLINE
DCOM- 20040421
LR  - 20221207
IS  - 0947-7349 (Print)
IS  - 0947-7349 (Linking)
VI  - 111
IP  - 5
DP  - 2003 Aug
TI  - The Ala45Thr polymorphism of BETA2/NeuroD1 gene and susceptibility to type 1 
      diabetes mellitus in caucasians.
PG  - 251-4
AB  - It has recently been shown that mutations in BETA2/NeuroD1 are responsible for 
      the development of type 2 diabetes mellitus (T2DM) in Caucasians. This gene is 
      located near the IDDM7 region and one of its amino acid polymorphisms, Ala45Thr, 
      has been associated with type 1 diabetes (T1DM) in Japanese and Danish 
      populations. The aim of our study is to examine Ala45Thr for its role in T1DM in 
      Caucasians. We used both population-based case-control analysis and family-based 
      transmission/disequilibrium testing (TDT). Genotyping was carried out by the 
      dot-blotting method using P32. Study subjects comprised 202 type 1 diabetes cases 
      (mean age at diagnosis: 11.1 years, mean age at examination: 36.4 years) and 139 
      controls with normal fasting glucose. For the TDT study, allelic transmission was 
      evaluated in 209 case family trios. The frequency of the Ala45 allele was 70.3 % 
      in cases and 62.9 % in controls (p=0.04), and 47.5 % of cases were Ala45 
      homozygotes compared to 36.0 % of controls (p=0.03). The TDT component of the 
      study did not achieve statistical significance. However, given the high frequency 
      of this variant even among controls, exceptionally large data sets are needed to 
      provide adequate power for this approach. Our case-control study suggests that 
      the Ala45 variant of BETA2/NeuroD1 may be associated with T1DM in Caucasians (or 
      in linkage disequilibrium with a causative variant). However, this finding should 
      be confirmed by a much larger family-based study.
FAU - Malecki, M T
AU  - Malecki MT
AD  - Department of Metabolic Diseases, Medical College, Jagiellonian University, 
      Krakow, Poland.
FAU - Klupa, T
AU  - Klupa T
FAU - Moczulski, D K
AU  - Moczulski DK
FAU - Rogus, J J
AU  - Rogus JJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Exp Clin Endocrinol Diabetes
JT  - Experimental and clinical endocrinology & diabetes : official journal, German 
      Society of Endocrinology [and] German Diabetes Association
JID - 9505926
RN  - 0 (Basic Helix-Loop-Helix Transcription Factors)
RN  - 0 (DNA Primers)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (NEUROD1 protein, human)
RN  - 0 (Trans-Activators)
RN  - 2ZD004190S (Threonine)
RN  - OF5P57N2ZX (Alanine)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Alanine
MH  - Amino Acid Substitution
MH  - Base Sequence
MH  - Basic Helix-Loop-Helix Transcription Factors
MH  - Case-Control Studies
MH  - DNA Primers
MH  - DNA-Binding Proteins/*genetics
MH  - Diabetes Mellitus, Type 1/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Genetic/*genetics
MH  - Reference Values
MH  - Threonine
MH  - Trans-Activators/*genetics
MH  - White People/*genetics
EDAT- 2003/09/03 05:00
MHDA- 2004/04/22 05:00
CRDT- 2003/09/03 05:00
PHST- 2003/09/03 05:00 [pubmed]
PHST- 2004/04/22 05:00 [medline]
PHST- 2003/09/03 05:00 [entrez]
AID - 10.1055/s-2003-41282 [doi]
PST - ppublish
SO  - Exp Clin Endocrinol Diabetes. 2003 Aug;111(5):251-4. doi: 10.1055/s-2003-41282.