Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set

Chistiakov, Dimitry A., Seryogin, Yuri A., Turakulov, Rustam I., Savost'anov, Kirill V., Titovich, Elena V., Zilberman, Lyubov' I., Kuraeva, Tamara L., Dedov, Ivan I. and Nosikov, Valery V. (2005) Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set. Journal of Autoimmunity, 24 3: 243-250. doi:10.1016/j.jaut.2005.01.017

Author Chistiakov, Dimitry A.
Seryogin, Yuri A.
Turakulov, Rustam I.
Savost'anov, Kirill V.
Titovich, Elena V.
Zilberman, Lyubov' I.
Kuraeva, Tamara L.
Dedov, Ivan I.
Nosikov, Valery V.
Title Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set
Journal name Journal of Autoimmunity   Check publisher's open access policy
ISSN 0896-8411
Publication date 2005
Sub-type Article (original research)
DOI 10.1016/j.jaut.2005.01.017
Volume 24
Issue 3
Start page 243
End page 250
Total pages 8
Place of publication London
Publisher Academic Press Ltd Elsevier Science Ltd
Collection year 2005
Language eng
Subject C1
Abstract Type 1 diabetes (TID) susceptibility locus, IDDM8, has been accurately mapped to 200 kilobases at the terminal end of chromosome 6q27. This is within the region which harbours a cluster of three genes encoding proteasome subunit beta 1 (PMSB1), TATA-box binding protein (TBP) and a homologue of mouse programming cell death activator 2 (PDCD2). In this study, we evaluated whether these genes contribute to TID susceptibility using the transmission disequilibrium test of the data set from 114 affected Russian simplex families. The A allele of the G/A1180 single nucleotide polymorphism (SNP) at the PDCD2 gene, which was significant in its preferential transfer from parents to diabetic children (75 transmissions vs. 47 non-transmissionS, x(2) = 12.85, P corrected = 0.0038), was found to be associated with T1D. G/A1180 dimorphism and two other SNPs, C/T771 TBP and G/T(-271) PDCD2, were shown to share three common haplotypes, two of which (A-T-G and A-T-T) have been associated with higher development risk of TID. The third haplotype (G-T-G) was related to having a lower risk of disease. These findings suggest that the PDCD2 gene is a likely susceptibility gene for TID within IDDM8. However, it was not possible to exclude the TBP gene from being another putative susceptibility gene in this region. (c) 2005 Elsevier Ltd. All rights reserved.
Keyword Type 1 Diabetes
Russian Population
Tata-binding Protein
Dependent Diabetes-mellitus
Programmed Cell-death
Linkage Disequilibrium
Interleukin-2 Gene
Q-Index Code C1

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Created: Wed, 15 Aug 2007, 06:11:08 EST