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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 orcid ; 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
; ; ; ; ; ; ; ; and
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
  • pmid:11092697
  • 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
2025-01-07 20:26:21
@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}},
  keywords     = {{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}},
  doi          = {{10.3109/08916930008994090}},
  volume       = {{32}},
  year         = {{2000}},
}