• Home
  1. Home
  2. A New HLA Map of Europe: Regional Genetic Variation and Its Implication for Peopling History, Disease-Association Studies and Tissue Transplantation
Scientific article
English

A New HLA Map of Europe: Regional Genetic Variation and Its Implication for Peopling History, Disease-Association Studies and Tissue Transplantation

Contributors

Sanchez-Mazas, Alicia; Buhler, Stéphane; Nunes, Jose Manuel

Published in

Human heredity, vol. 76, no. 3-4, p. 162-177

Publication date

2013

Abstract

Objectives: HLA genes are highly polymorphic in human populations as a result of diversifying selection related to their immune function. However, HLA geographic variation worldwide suggests that demographic factors also shaped their evolution. We here analyzed in detail HLA genetic variation in Europe in order to identify signatures of migration history and/or natural selection. Methods: Relationships between HLA diversity and geography were analyzed at 7 loci through several approaches including linear regression on gene diversity and haplotype frequencies. Regional variation was also assessed on HLA multi-locus phenotypes through structure analysis. Deviation from neutrality was tested by resampling. Results: Geographic distance was a strong predictor of HLA variation at 5 loci (A, B, C, DRB1 and DPB1) in Europe, and latitude significantly shaped HLA gene diversity and haplotype frequencies. Whereas the main level of genetic diversity was found within populations, both HLA gene frequencies and phenotypic profiles revealed regional variation, Southeast Europe, Great Britain and Finland being the most distinctive. Effects of natural selection were suggested at the DQ loci. Conclusions: HLA regional variation was observed in Europe and can be related to population history, locus HLA-A providing by far the strongest signals. This new HLA map of Europe represents an invaluable reference for disease-association studies and tissue transplantation.

Keywords

  • HLA
  • Population genetics
  • European
  • Caucasian
  • Demographic history
  • Genetic diversity
  • Human populations
  • Linkage disequilibrium
  • Multi-allelic loci
  • Natural selection
  • Population data
  • Phenotypic variation
  • HLA haplotypes
  • HLA-NET
  • EUROSTAM

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

SANCHEZ-MAZAS, Alicia, BUHLER, Stéphane, NUNES, Jose Manuel. A New HLA Map of Europe: Regional Genetic Variation and Its Implication for Peopling History, Disease-Association Studies and Tissue Transplantation. In: Human heredity, 2013, vol. 76, n° 3-4, p. 162–177. doi: 10.1159/000360855

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

0001-5652
542views
5downloads

Technical informations

Creation

20/06/2016 19:11:00

First validation

20/06/2016 19:11:00

Update

13/10/2025 20:52:28

Status update

15/03/2023 00:28:32

Last indexation

15/10/2026 22:59:24
All rights reserved by Archive ouverte UNIGE and the University of Geneva
OpenAIRE Indexed & Validated