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The Inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case–control association studies in complex diseases

Lampis, Rosanna and Morelli, Laura Cornelia Clotilde and Congia, Mauro and Macis, Maria Doloretta and Mulargia, Annapaola and Loddo, Miriam and De Virgiliis, Stefano and Marrosu, Maria Giovanna and Todd, John A. and Cucca, Francesco (2000) The Inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case–control association studies in complex diseases. Human Molecular Genetics, Vol. 9 (20), p. 2959-2965. eISSN 1460-2083. Article.

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DOI: 10.1093/hmg/9.20.2959

Abstract

We have analysed HLA class II gene-based substructure of the Sardinian population in order to evaluate the possible influence of this parameter in the mapping of common disease loci using association methods. We first examined the distribution of the HLA-DRB1-DQA1-DQB1 haplotypes in 631 newborns from seven different regions of the island, and found that the most frequent haplotypes were uniformly distributed in all regions, but at frequencies unique to Sardinia. Other haplotypes, common in other white European populations, are consistently rare or absent across the whole island. Analysis of molecular variance (AMOVA) showed a very low degree of genetic differentiation between the coastal regions, which have suffered repeated invasions over many years, and the most internal and isolated part of the island. This suggests that there has been little genetic flow from the various populations that have invaded the island during the last 3000 years and that Sardinia is a relatively homogeneous population. The validity of these unrelated control HLA haplotype frequencies and our claim of homogeneity were established by demonstrating the near identity of the affected family-based control (AFBAC) HLA haplotype frequencies in 243 type 1 diabetes and 495 multiple sclerosis families from Sardinia and those of the unrelated controls. These results indicate that robust case–control studies can be carried out in Sardinia offering cost efficiency over certain family-based designs.

Item Type:Article
ID Code:3966
Status:Published
Refereed:Yes
Uncontrolled Keywords:HLA haplotype frequencies, complex diseases, Sardinian population
Subjects:Area 06 - Scienze mediche > MED/03 Genetica medica
Area 05 - Scienze biologiche > BIO/18 Genetica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
001 Università di Sassari > 01 Dipartimenti > Zoologia e genetica evoluzionistica
Publisher:Oxford University Press
eISSN:1460-2083
Deposited On:26 May 2010 13:01

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