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

Antti-Pekka Laine, Hanna Holmberg, Anita Ramelius, E. Ortqvist, Minna Kiviniemi, Outi Vaarala, Hans K. Akerblom, Olli Simell, Mikael Knip, Johnny Ludvigsson, Sten Ivarsson, Karin Larsson, Åke Lernmark, Jorma Ilonen

Research output: Contribution to journalArticlepeer-review

12 Citations (SciVal)


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.
Original languageEnglish
Pages (from-to)139-145
JournalDisease Markers
Issue number3
Publication statusPublished - 2007

Bibliographical note

The information about affiliations in this record was updated in December 2015.
The record was previously connected to the following departments: Diabetes and Celiac Unit (013241540), Pediatrics/Urology/Gynecology/Endocrinology (013240400)

Subject classification (UKÄ)

  • Endocrinology and Diabetes


  • screening for
  • Finnish population
  • type 1 diabetes
  • insulin gene region
  • genetic risk


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