Human Genetics

, Volume 111, Issue 1, pp 40–45

A new locus for coeliac disease mapped to chromosome 15 in a population isolate

Authors

  • Niina Woolley
    • Department of Tissue Typing, Finnish Red Cross Blood Transfusion Service, Kivihaantie 7, 00310 Helsinki, Finland
  • Päivi Holopainen
    • Department of Tissue Typing, Finnish Red Cross Blood Transfusion Service, Kivihaantie 7, 00310 Helsinki, Finland
  • Vesa Ollikainen
    • Finnish Genome Center, University of Helsinki, Helsinki, Finland
  • Kirsi Mustalahti
    • Medical School, Paediatric Research Center, University of Tampere, Tampere, Finland
  • Markku Mäki
    • Medical School, Paediatric Research Center, University of Tampere, Tampere, Finland
  • Juha Kere
    • Finnish Genome Center, University of Helsinki, Helsinki, Finland
  • Jukka Partanen
    • Department of Tissue Typing, Finnish Red Cross Blood Transfusion Service, Kivihaantie 7, 00310 Helsinki, Finland
Original Investigation

DOI: 10.1007/s00439-002-0745-z

Cite this article as:
Woolley, N., Holopainen, P., Ollikainen, V. et al. Hum Genet (2002) 111: 40. doi:10.1007/s00439-002-0745-z

Abstract.

Coeliac disease is a common multifactorial disease with a strong genetic component, which is not entirely explained by the HLA association. Four previous whole-genome screens have produced somewhat inconsistent results suggesting genetic heterogeneity. We attempted to overcome this problem by performing a genome-wide scan in a Finnish sub-population, expected to be more homogeneous than the general population of Finland. The families in our study originate from the northeastern part of Finland, the Koilliskaira region, which has been relatively isolated since its founding in the 16th century. Genealogical studies have confirmed that the families share a common ancestor in the 16th century. Nine families with altogether 23 patients were genotyped for 399 microsatellite markers and the data were analysed with parametric linkage analysis using two dominant and one recessive model. A region on chromosome 15q11-q13 was implicated with a LOD score of 3.14 using a highly penetrant dominant model. Addition of more markers and one more sib-pair increased the LOD score to 3.74. This result gives preliminary evidence for existence of a susceptibility factor in this chromosomal region.

Copyright information

© Springer-Verlag 2002