Literature DB >> 1471143

HLA structure of the Sardinian population: a haplotype study of 551 families.

L Contu1, M Arras, C Carcassi, G La Nasa, M Mulargia.   

Abstract

A study on the HLA structure of the Sardinian population was carried out on 551 healthy unrelated families representing all of the island districts. Altogether 2202 HLA-A, B, Cw, DR individual haplotypes and 853 different haplotypes were determined. Cavalli-Sforza and Edwards' genetic distance index for the total of 62 tested alleles showed a modest heterogeneity between one district and another (0.09-0.16). The genetic distance between Sardinians and the rest of the Italian population was 0.23 (0.22-0.26) and progressively increased in comparisons with caucasoids (0.26), negroids (0.34) and mongoloids (0.41). Sixty-three two-locus haplotypes with a high positive linkage disequilibrium were observed in our family sample. The percentages of two-locus haplotypes in LD shared with other populations turned out to be 45% with caucasoids, 20% with negroids and 10% with mongoloids. The distribution of the A, B, Cw, DR haplotypes is shown with 673 of them represented only once or twice, and 10 (1.2%) 14-322 times each. Of the latter, 8 are extended haplotypes, 6 of which characterize the Sardinian population. The analysis of our data suggests that the present-day Sardinian population is the result of a superposition of different populations, mainly consisting of caucasoids on a pre-caucasoid paleo-Mediterranean substratum.

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Year:  1992        PMID: 1471143     DOI: 10.1111/j.1399-0039.1992.tb02041.x

Source DB:  PubMed          Journal:  Tissue Antigens        ISSN: 0001-2815


  9 in total

1.  A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism.

Authors:  M Putzolu; A Meloni; S Loche; C Pischedda; A Cao; P Moi
Journal:  J Endocrinol Invest       Date:  1997-05       Impact factor: 4.256

2.  Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region.

Authors:  F Cucca; Z B Zhu; A Khanna; F Cossu; M Congia; M Badiali; R Lampis; F Frau; S De Virgiliis; A Cao; M Arnone; P Piras; R D Campbell; M D Cooper; J E Volanakis; S H Powis
Journal:  Clin Exp Immunol       Date:  1998-01       Impact factor: 4.330

3.  Strong association between microsatellites and an HLA-B, DR haplotype (B18-DR3): implication for microsatellite evolution.

Authors:  B Crouau-Roy; N Bouzekri; C Carcassi; J Clayton; L Contu; A Cambon-Thomsen
Journal:  Immunogenetics       Date:  1996       Impact factor: 2.846

4.  Entropy of human leukocyte antigen and killer-cell immunoglobulin-like receptor systems in immune-mediated disorders: A pilot study on multiple sclerosis.

Authors:  Maurizio Melis; Roberto Littera; Eleonora Cocco; Jessica Frau; Sara Lai; Elena Congeddu; Paola Ragatzu; Maria Serra; Valentina Loi; Roberta Maddi; Roberta Pitzalis; Sandro Orrù; Luchino Chessa; Andrea Perra; Carlo Carcassi
Journal:  PLoS One       Date:  2019-12-17       Impact factor: 3.240

5.  Human Leukocyte Antigen Complex and Other Immunogenetic and Clinical Factors Influence Susceptibility or Protection to SARS-CoV-2 Infection and Severity of the Disease Course. The Sardinian Experience.

Authors:  Roberto Littera; Marcello Campagna; Silvia Deidda; Goffredo Angioni; Selene Cipri; Maurizio Melis; Davide Firinu; Simonetta Santus; Alberto Lai; Rita Porcella; Sara Lai; Stefania Rassu; Rosetta Scioscia; Federico Meloni; Daniele Schirru; William Cordeddu; Marta Anna Kowalik; Maria Serra; Paola Ragatzu; Mauro Giovanni Carta; Stefano Del Giacco; Angelo Restivo; Simona Deidda; Sandro Orrù; Antonella Palimodde; Roberto Perra; Germano Orrù; Maria Conti; Cinzia Balestrieri; Giancarlo Serra; Simona Onali; Francesco Marongiu; Andrea Perra; Luchino Chessa
Journal:  Front Immunol       Date:  2020-12-04       Impact factor: 7.561

6.  Association between protective and deleterious HLA alleles with multiple sclerosis in Central East Sardinia.

Authors:  Roberta Pastorino; Cristina Menni; Monserrata Barca; Luisa Foco; Valeria Saddi; Giovanna Gazzaniga; Raffaela Ferrai; Luca Mascaretti; Frank Dudbridge; Carlo Berzuini; Salvatore Bruno Murgia; Maria Luisa Piras; Anna Ticca; Pier Paolo Bitti; Luisa Bernardinelli
Journal:  PLoS One       Date:  2009-08-05       Impact factor: 3.240

7.  Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans.

Authors:  Daniela Contu; Laura Morelli; Federico Santoni; Jamie W Foster; Paolo Francalacci; Francesco Cucca
Journal:  PLoS One       Date:  2008-01-09       Impact factor: 3.240

8.  Exploring the Role of Killer Cell Immunoglobulin-Like Receptors and Their HLA Class I Ligands in Autoimmune Hepatitis.

Authors:  Roberto Littera; Luchino Chessa; Simona Onali; Francesco Figorilli; Sara Lai; Luca Secci; Giorgio La Nasa; Giovanni Caocci; Marcella Arras; Maurizio Melis; Sara Cappellini; Cinzia Balestrieri; Giancarlo Serra; Maria Conti; Teresa Zolfino; Michele Casale; Stefania Casu; Maria Cristina Pasetto; Lucia Barca; Claudia Salustro; Laura Matta; Rosetta Scioscia; Fausto Zamboni; Gavino Faa; Sandro Orrù; Carlo Carcassi
Journal:  PLoS One       Date:  2016-01-08       Impact factor: 3.240

9.  AIF-1 gene does not confer susceptibility to Behçet's disease: Analysis of extended haplotypes in Sardinian population.

Authors:  Maria Maddalena Angioni; Matteo Piga; Fabiana Paladini; Sara Lai; Gian Luca Erre; Alberto Floris; Alberto Cauli; Maria Teresa Fiorillo; Giuseppe Passiu; Carlo Carcassi; Rosa Sorrentino; Alessandro Mathieu
Journal:  PLoS One       Date:  2018-09-25       Impact factor: 3.240

  9 in total

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