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The length of the CTLA-4 microsatellite (AT)(N)-repeat affects the risk for type 1 diabetes

Lowe, Michael R.; Graham, J; Sund, G.; Kockum, I; Landin-Olsson, M. LU ; Schaefer, Jonathan B; Torn, C. LU ; Lernmark, A. LU ; Dahlquist, G and Blohme, G (2000) In Autoimmunity 32(3). p.173-180
Abstract

CTLA-4 is important to down-regulating T cell responses and has been implicated in type 1 (insulin dependent) diabetes mellitus in both linkage and association studies. The aim of our study was to relate the polymorphic (AT)(n) microsatellite in the 3' untranslated sequence of the CTLA-4 gene to diabetes risk. We studied 616 consecutively diagnosed 0-34 year-old Swedish patients and 502 matched controls by PCR-based genotyping to determine the length of the 3'-end (AT)(n)repeat region of the CTLA-4 gene and categorizing alleles as predominantly monomorphic short (S) or highly polymorphic (in length) long (L) alleles. The odds of type 1 diabetes of subjects with the L/L genotype was estimated to be 1.84 times that of subjects with the... (More)

CTLA-4 is important to down-regulating T cell responses and has been implicated in type 1 (insulin dependent) diabetes mellitus in both linkage and association studies. The aim of our study was to relate the polymorphic (AT)(n) microsatellite in the 3' untranslated sequence of the CTLA-4 gene to diabetes risk. We studied 616 consecutively diagnosed 0-34 year-old Swedish patients and 502 matched controls by PCR-based genotyping to determine the length of the 3'-end (AT)(n)repeat region of the CTLA-4 gene and categorizing alleles as predominantly monomorphic short (S) or highly polymorphic (in length) long (L) alleles. The odds of type 1 diabetes of subjects with the L/L genotype was estimated to be 1.84 times that of subjects with the S/S genotype (95% CI 1.44-2.73, p=0.002). Further analysis of the long alleles, partitioned into intermediate (I) length and very long (VL) alleles, suggested that L alleles act recessively in conferring diabetes risk (p=0.0009). This study suggests that the 3'-end (AT)(n) repeat region of the CTLA-4 gene represents a recessive risk factor for type 1 diabetes.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Autoimmunity, Diabetes genes, Diabetes mellitus, IDDM, Insulin-dependent diabetes, T cells
in
Autoimmunity
volume
32
issue
3
pages
8 pages
publisher
Taylor & Francis
external identifiers
  • scopus:0033709554
ISSN
0891-6934
DOI
10.3109/08916930008994090
language
English
LU publication?
yes
id
8be6ed91-fde0-42c0-8856-b5903bfbb308
date added to LUP
2017-09-06 15:12:50
date last changed
2017-09-06 15:12:50
@article{8be6ed91-fde0-42c0-8856-b5903bfbb308,
  abstract     = {<p>CTLA-4 is important to down-regulating T cell responses and has been implicated in type 1 (insulin dependent) diabetes mellitus in both linkage and association studies. The aim of our study was to relate the polymorphic (AT)(n) microsatellite in the 3' untranslated sequence of the CTLA-4 gene to diabetes risk. We studied 616 consecutively diagnosed 0-34 year-old Swedish patients and 502 matched controls by PCR-based genotyping to determine the length of the 3'-end (AT)(n)repeat region of the CTLA-4 gene and categorizing alleles as predominantly monomorphic short (S) or highly polymorphic (in length) long (L) alleles. The odds of type 1 diabetes of subjects with the L/L genotype was estimated to be 1.84 times that of subjects with the S/S genotype (95% CI 1.44-2.73, p=0.002). Further analysis of the long alleles, partitioned into intermediate (I) length and very long (VL) alleles, suggested that L alleles act recessively in conferring diabetes risk (p=0.0009). This study suggests that the 3'-end (AT)(n) repeat region of the CTLA-4 gene represents a recessive risk factor for type 1 diabetes.</p>},
  author       = {Lowe, Michael R. and Graham, J and Sund, G. and Kockum, I and Landin-Olsson, M. and Schaefer, Jonathan B and Torn, C. and Lernmark, A. and Dahlquist, G and Blohme, G},
  issn         = {0891-6934},
  keyword      = {Autoimmunity,Diabetes genes,Diabetes mellitus,IDDM,Insulin-dependent diabetes,T cells},
  language     = {eng},
  number       = {3},
  pages        = {173--180},
  publisher    = {Taylor & Francis},
  series       = {Autoimmunity},
  title        = {The length of the CTLA-4 microsatellite (AT)(N)-repeat affects the risk for type 1 diabetes},
  url          = {http://dx.doi.org/10.3109/08916930008994090},
  volume       = {32},
  year         = {2000},
}