PMID- 18401547
OWN - NLM
STAT- MEDLINE
DCOM- 20080813
LR  - 20211020
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 53
IP  - 6
DP  - 2008
TI  - TIM-3 polymorphisms in type 1 diabetes families.
PG  - 559-564
LID - 10.1007/s10038-008-0286-y [doi]
AB  - TIM-3 is a transmembrane protein preferentially expressed on differentiated Th1 
      cells, which play a role in Th1-mediated diseases including type 1 diabetes. We 
      investigated the role of the rs10515746 (A/C), rs1036199 (A/C), and rs10053538 
      (A/C) single nucleotide polymorphisms (SNPs) within the TIM-3 gene in 186 German 
      type 1 diabetes families (558 individuals) and its interaction with human 
      leukocyte antigen (HLA) high-risk haplotypes DQ2(DQA*0501-DQB*0201)-DQ8 
      (DQA*0301-DQB*0302). Alleles A, C, and A of the rs10515746 (A/C), rs1036199 
      (A/C), and rs10053538 (A/C) SNPs were found in a frequency of 20.4%, 19.0%, and 
      4.2%, respectively. Transmission analysis of these polymorphisms did not show any 
      significant difference. Although in patients with HLA DQx/x (neither HLA DQ2 nor 
      DQ8) an undertransmission of allele A (14.3% vs. 85.7%) of the rs10053538 (A/C) 
      SNP and an overtransmission of allele A (66.7% vs. 33.3%) of the rs10515746 (A/C) 
      SNP was observed, these associations did not remain statistically significant 
      after correction for multiple comparisons. Although we found no association of 
      TIM-3 with type 1 diabetes in the German population, we cannot discard a possible 
      association in a larger size.
FAU - Bruck, Patrick
AU  - Bruck P
AD  - Department of Internal Medicine II, Division of Haematology and Oncology, 
      University Hospital Frankfurt, Frankfurt am Main, Germany.
FAU - Ramos-Lopez, Elizabeth
AU  - Ramos-Lopez E
AD  - Department of Internal Medicine I, Division of Endocrinology, Diabetes and 
      Metabolism, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt 
      am Main, Germany.
FAU - Bartsch, Wiebke
AU  - Bartsch W
AD  - Department of Internal Medicine I, Division of Endocrinology, Diabetes and 
      Metabolism, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt 
      am Main, Germany.
FAU - Bohme, Angelika
AU  - Bohme A
AD  - Department of Internal Medicine II, Division of Haematology and Oncology, 
      University Hospital Frankfurt, Frankfurt am Main, Germany.
FAU - Badenhoop, Klaus
AU  - Badenhoop K
AD  - Department of Internal Medicine I, Division of Endocrinology, Diabetes and 
      Metabolism, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt 
      am Main, Germany. badenhoop@em.uni-frankfurt.de.
LA  - eng
PT  - Journal Article
DEP - 20080410
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (DNA Primers)
RN  - 0 (HAVCR2 protein, human)
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (Hepatitis A Virus Cellular Receptor 2)
RN  - 0 (Membrane Proteins)
SB  - IM
MH  - Alleles
MH  - Base Sequence
MH  - Child
MH  - DNA Primers/genetics
MH  - Diabetes Mellitus, Type 1/*genetics/immunology
MH  - Family
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Germany
MH  - HLA-DQ Antigens/genetics
MH  - Haplotypes
MH  - Hepatitis A Virus Cellular Receptor 2
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Polymorphism, Single Nucleotide
EDAT- 2008/04/11 09:00
MHDA- 2008/08/14 09:00
CRDT- 2008/04/11 09:00
PHST- 2007/12/20 00:00 [received]
PHST- 2008/03/16 00:00 [accepted]
PHST- 2008/04/11 09:00 [pubmed]
PHST- 2008/08/14 09:00 [medline]
PHST- 2008/04/11 09:00 [entrez]
AID - 10.1007/s10038-008-0286-y [pii]
AID - 10.1007/s10038-008-0286-y [doi]
PST - ppublish
SO  - J Hum Genet. 2008;53(6):559-564. doi: 10.1007/s10038-008-0286-y. Epub 2008 Apr 
      10.