The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients

Chistiakov, Dimitry A., Chernisheva, Ana, Savostanov, Kirill V., Turakulov, Rustam I., Kuraeva, Tamara L., Dedov, Ivan I. and Nosikov, Valery V. (2005) The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients. Autoimmunity, 38 4: 283-293. doi:10.1080/08916930500128594

Author Chistiakov, Dimitry A.
Chernisheva, Ana
Savostanov, Kirill V.
Turakulov, Rustam I.
Kuraeva, Tamara L.
Dedov, Ivan I.
Nosikov, Valery V.
Title The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients
Journal name Autoimmunity   Check publisher's open access policy
ISSN 0891-6934
Publication date 2005
Sub-type Article (original research)
DOI 10.1080/08916930500128594
Volume 38
Issue 4
Start page 283
End page 293
Total pages 11
Place of publication Abingdon
Publisher Taylor & Francis Ltd
Collection year 2005
Language eng
Subject C1
11 Medical and Health Sciences
Abstract Type 1 diabetes (T1D) is a multifactorial autoimmune disease, with strong genetic component. Several susceptibility loci contribute to genetic predisposition to T1D. One of these loci have been mapped to chromosome 1q42 in UK and US joined affected family data sets but needs to be replicated in other populations. In this study, we evaluated sixteen microsatellites located on 1q42 for linkage with T1D in 97 Russian affected sibling pairs. A 2.7-cm region of suggestive linkage to T1D between markers D1S1644 and D1S225 was found by multipoint linkage analysis. The peak of linkage was shown for D1S2847 (P = 0.0005). Transmission disequilibrium test showed significant undertransmission of the 156-bp allele of D1S2847 from parents to diabetic children (28 transmissions vs. 68 nontransmissions, P = 0.043) in Russian affected families. A preferential transmission from parents to diabetic offspring was also shown for the T(-25) and T1362 alleles of the C/T(-25) and C/T1362 dimorphisms, both located at the TAF5L gene, which is situated 103 kb from D1S2847. Together with the A/C744 TAF5L SNP, these markers share common T(-25)/A744/T1362 and C(-25)/C744/T1362 haplotypes associated with higher and lower risk of diabetes (Odds Ratio = 2.15 and 0.62, respectively). Our results suggest that the TAF5L gene, encoding TAF5L-like RNA polymerase II p300/CBP associated factor (PCAF)-associated factor, could represent the susceptibility gene for T1D on chromosome 1q42 in Russian affected patients.
Keyword Type 1 Diabetes
Chromosome 1q42
Taf5l Gene
Russian Population
Dinucleotide Repeat Polymorphism
Genome-wide Search
T-cell Development
Sib-pair Families
Polymerase Gene
Insulin Gene
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2006 Higher Education Research Data Collection
School of Medicine Publications
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