The heterogeneous HLA genetic makeup of the Swiss population.

This study aims at investigating the HLA molecular variation across Switzerland in order to determine possible regional differences, which would be highly relevant to several purposes: optimizing donor recruitment strategies in hematopoietic stem cell transplantation (HSCT), providing reliable refer...

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Autores principales:	Stéphane Buhler, José Manuel Nunes, Grazia Nicoloso, Jean-Marie Tiercy, Alicia Sanchez-Mazas
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/82588b9fcd8d427285791fa0844f5e9e
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spelling	oai:doaj.org-article:82588b9fcd8d427285791fa0844f5e9e2021-11-18T07:11:08ZThe heterogeneous HLA genetic makeup of the Swiss population.1932-620310.1371/journal.pone.0041400https://doaj.org/article/82588b9fcd8d427285791fa0844f5e9e2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22848484/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203This study aims at investigating the HLA molecular variation across Switzerland in order to determine possible regional differences, which would be highly relevant to several purposes: optimizing donor recruitment strategies in hematopoietic stem cell transplantation (HSCT), providing reliable reference data in HLA and disease association studies, and understanding the population genetic background(s) of this culturally heterogeneous country. HLA molecular data of more than 20,000 HSCT donors from 9-13 recruitment centers of the whole country were analyzed. Allele and haplotype frequencies were estimated by using new computer tools adapted to the heterogeneity and ambiguity of the data. Non-parametric and resampling statistical tests were performed to assess Hardy-Weinberg equilibrium, selective neutrality and linkage disequilibrium among different loci, both in each recruitment center and in the whole national registry. Genetic variation was explored through genetic distance and hierarchical analysis of variance taking into account both geographic and linguistic subdivisions in Switzerland. The results indicate a heterogeneous genetic makeup of the Swiss population: first, allele frequencies estimated on the whole national registry strongly deviate from Hardy-Weinberg equilibrium, by contrast with the results obtained for individual centers; second, a pronounced differentiation is observed for Ticino, Graubünden, and, to a lesser extent, Wallis, suggesting that the Alps represent(ed) a barrier to gene flow; finally, although cultural (linguistic) boundaries do not represent a main genetic differentiation factor in Switzerland, the genetic relatedness between population from south-eastern Switzerland and Italy agrees with historical and linguistic data. Overall, this study justifies the maintenance of a decentralized donor recruitment structure in Switzerland allowing increasing the genetic diversity of the national--and hence global--donor registry. It also indicates that HLA data of local donor recruitment centers can be used as reference data in both epidemiological and population genetic studies focusing on the genetic history of present European populations.Stéphane BuhlerJosé Manuel NunesGrazia NicolosoJean-Marie TiercyAlicia Sanchez-MazasPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 7, p e41400 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Stéphane Buhler José Manuel Nunes Grazia Nicoloso Jean-Marie Tiercy Alicia Sanchez-Mazas The heterogeneous HLA genetic makeup of the Swiss population.
description	This study aims at investigating the HLA molecular variation across Switzerland in order to determine possible regional differences, which would be highly relevant to several purposes: optimizing donor recruitment strategies in hematopoietic stem cell transplantation (HSCT), providing reliable reference data in HLA and disease association studies, and understanding the population genetic background(s) of this culturally heterogeneous country. HLA molecular data of more than 20,000 HSCT donors from 9-13 recruitment centers of the whole country were analyzed. Allele and haplotype frequencies were estimated by using new computer tools adapted to the heterogeneity and ambiguity of the data. Non-parametric and resampling statistical tests were performed to assess Hardy-Weinberg equilibrium, selective neutrality and linkage disequilibrium among different loci, both in each recruitment center and in the whole national registry. Genetic variation was explored through genetic distance and hierarchical analysis of variance taking into account both geographic and linguistic subdivisions in Switzerland. The results indicate a heterogeneous genetic makeup of the Swiss population: first, allele frequencies estimated on the whole national registry strongly deviate from Hardy-Weinberg equilibrium, by contrast with the results obtained for individual centers; second, a pronounced differentiation is observed for Ticino, Graubünden, and, to a lesser extent, Wallis, suggesting that the Alps represent(ed) a barrier to gene flow; finally, although cultural (linguistic) boundaries do not represent a main genetic differentiation factor in Switzerland, the genetic relatedness between population from south-eastern Switzerland and Italy agrees with historical and linguistic data. Overall, this study justifies the maintenance of a decentralized donor recruitment structure in Switzerland allowing increasing the genetic diversity of the national--and hence global--donor registry. It also indicates that HLA data of local donor recruitment centers can be used as reference data in both epidemiological and population genetic studies focusing on the genetic history of present European populations.
format	article
author	Stéphane Buhler José Manuel Nunes Grazia Nicoloso Jean-Marie Tiercy Alicia Sanchez-Mazas
author_facet	Stéphane Buhler José Manuel Nunes Grazia Nicoloso Jean-Marie Tiercy Alicia Sanchez-Mazas
author_sort	Stéphane Buhler
title	The heterogeneous HLA genetic makeup of the Swiss population.
title_short	The heterogeneous HLA genetic makeup of the Swiss population.
title_full	The heterogeneous HLA genetic makeup of the Swiss population.
title_fullStr	The heterogeneous HLA genetic makeup of the Swiss population.
title_full_unstemmed	The heterogeneous HLA genetic makeup of the Swiss population.
title_sort	heterogeneous hla genetic makeup of the swiss population.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/82588b9fcd8d427285791fa0844f5e9e
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The heterogeneous HLA genetic makeup of the Swiss population.

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