Genetic analysis in Finnish families with inflammatory bowel disease supports linkage to chromosome 3p21

Paulina Paavola, Tiina Heliö, Maija Ht Kiuru, Leena Halme, Ulla Turunen, Joseph Terwilliger, Anna Liisa Karvonen, Risto Julkunen, Seppo Niemelä, Heimo Nurmi, Martti Färkkilä, Kimmo Kontula

Research output: Contribution to journalArticlepeer-review

40 Scopus citations


In inflammatory bowel diseases (IBD), certain chromosomal candidate loci have been repeatedly identified by independent studies in different populations. To investigate the contribution of the loci on chromosomes 1, 3, 7, 12, 14, and 16 to the susceptibility of IBD in Finnish population, where the predominant feature is the excess of ulcerative colitis (UC) families compared to Crohn's disease (CD) families, we carried out linkage analyses using 93 Finnish, multiply-affected IBD families. We observed nominal evidence for linkage to chromosome 3p21, consistent with earlier reports. The lod scores peaked at D3S2432, with a maximum two-point lod score of 1.68 (P=0.0027). In addition, we studied whether risk of IBD is associated with functional variants of two positional candidate genes; the chemokine receptor CCR5 gene on chromosome 3p21 and the interleukin-4 receptor α-subunit gene (IL4RA) on chromosome 16. We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nucleotide change A1902G (Gln576Arg) of IL4RA, and IBD phenotypes, with the exception that in the UC group homozygosity for the G1902 allele of IL4RA was less frequent (0.019 vs 0.049, P=0.038). In conclusion, our study, carried out in a genetically homogenous population, suggests that chromosome 3 may contain a susceptibility gene for IBD.

Original languageEnglish (US)
Pages (from-to)328-334
Number of pages7
JournalEuropean Journal of Human Genetics
Issue number5
StatePublished - 2001
Externally publishedYes


  • Chromosome mapping
  • Genetic predisposition to disease
  • Inflammatory bowel diseases
  • Linkage
  • Lod score
  • Microsatellite repeats

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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