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Two insulin gene single nucleotide polymorphisms associated with type 1 diabetes risk in the Finnish and Swedish populations

Laine, Antti-Pekka; Holmberg, Hanna; Ramelius, Anita LU ; Ortqvist, E.; Kiviniemi, Minna; Vaarala, Outi; Akerblom, Hans K.; Simell, Olli; Knip, Mikael and Ludvigsson, Johnny, et al. (2007) In Disease Markers 23(3). p.139-145
Abstract
We have developed high-throughput tests for the detection of the insulin gene region SNPs -23HphI and -2221MspI. The potential of these markers to enhance the efficiency of type I diabetes risk screening was then evaluated by analyzing them in Finnish and Swedish populations. Blood spots on filter paper were analyzed using PCR followed by sequence- specific hybridization and time-resolved fluorometry reading. Distribution of the genotypes at both positions differed significantly among the affected children compared to the controls. The risk genotypes (CC, AA) were significantly more common in Finland than in Sweden, both among patients and controls. The VNTR genotype homozygous for the protective class III alleles showed a significantly... (More)
We have developed high-throughput tests for the detection of the insulin gene region SNPs -23HphI and -2221MspI. The potential of these markers to enhance the efficiency of type I diabetes risk screening was then evaluated by analyzing them in Finnish and Swedish populations. Blood spots on filter paper were analyzed using PCR followed by sequence- specific hybridization and time-resolved fluorometry reading. Distribution of the genotypes at both positions differed significantly among the affected children compared to the controls. The risk genotypes (CC, AA) were significantly more common in Finland than in Sweden, both among patients and controls. The VNTR genotype homozygous for the protective class III alleles showed a significantly stronger protective effect than the heterozygote (p = 0.02). Analyzing both SNPs enabled the detection of VNTR class III subclasses IIIA and IIIB. The observed significance between effects of the protective genotypes was due to the strong protective effect of the IIIA/IIIA genotype. IIIA/IlIA was the only genotype with significant discrepancy between protective effects compared to the other class III genotypes. These observations suggest that heterogeneity between the protective IDDM2 lineages could exist, and analyzing both -23HphI and -2221MspI would thus potentially enhance the sensitivity and specificity of type I diabetes risk estimation. (Less)
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Contribution to journal
publication status
published
subject
keywords
screening for, Finnish population, type 1 diabetes, insulin gene region, genetic risk
in
Disease Markers
volume
23
issue
3
pages
139 - 145
publisher
IOS Press
external identifiers
  • wos:000246827600001
  • scopus:34249892413
ISSN
0278-0240
language
English
LU publication?
yes
id
0920ae3c-f1b6-4bf7-a201-f459e9dedcaa (old id 657487)
alternative location
http://iospress.metapress.com/link.asp?id=153pm366m8w947l8
date added to LUP
2007-12-13 18:40:00
date last changed
2017-07-23 04:49:51
@article{0920ae3c-f1b6-4bf7-a201-f459e9dedcaa,
  abstract     = {We have developed high-throughput tests for the detection of the insulin gene region SNPs -23HphI and -2221MspI. The potential of these markers to enhance the efficiency of type I diabetes risk screening was then evaluated by analyzing them in Finnish and Swedish populations. Blood spots on filter paper were analyzed using PCR followed by sequence- specific hybridization and time-resolved fluorometry reading. Distribution of the genotypes at both positions differed significantly among the affected children compared to the controls. The risk genotypes (CC, AA) were significantly more common in Finland than in Sweden, both among patients and controls. The VNTR genotype homozygous for the protective class III alleles showed a significantly stronger protective effect than the heterozygote (p = 0.02). Analyzing both SNPs enabled the detection of VNTR class III subclasses IIIA and IIIB. The observed significance between effects of the protective genotypes was due to the strong protective effect of the IIIA/IIIA genotype. IIIA/IlIA was the only genotype with significant discrepancy between protective effects compared to the other class III genotypes. These observations suggest that heterogeneity between the protective IDDM2 lineages could exist, and analyzing both -23HphI and -2221MspI would thus potentially enhance the sensitivity and specificity of type I diabetes risk estimation.},
  author       = {Laine, Antti-Pekka and Holmberg, Hanna and Ramelius, Anita and Ortqvist, E. and Kiviniemi, Minna and Vaarala, Outi and Akerblom, Hans K. and Simell, Olli and Knip, Mikael and Ludvigsson, Johnny and Ivarsson, Sten and Larsson, Karin and Lernmark, Åke and Ilonen, Jorma},
  issn         = {0278-0240},
  keyword      = {screening for,Finnish population,type 1 diabetes,insulin gene region,genetic risk},
  language     = {eng},
  number       = {3},
  pages        = {139--145},
  publisher    = {IOS Press},
  series       = {Disease Markers},
  title        = {Two insulin gene single nucleotide polymorphisms associated with type 1 diabetes risk in the Finnish and Swedish populations},
  volume       = {23},
  year         = {2007},
}