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High-resolution HLA allele and haplotype frequencies in majority and minority populations of Costa Rica and Nicaragua: Differential admixture proportions in neighboring countries. HLA 2018 Jun;91(6):514-529

Date

04/25/2018

Pubmed ID

29687625

DOI

10.1111/tan.13280

Scopus ID

2-s2.0-85048044969 (requires institutional sign-in at Scopus site)   21 Citations

Abstract

The HLA system shows the most extensive polymorphism in the human genome. Allelic and haplotypic frequencies of HLA genes vary dramatically across human populations. Due to a complex history of migration, populations in Latin America show a broad variety of admixture proportions, usually varying not only between countries, but also within countries. Knowledge of HLA allele and haplotype frequencies is essential for medical fields such as transplantation, but also serves as a means to assess genetic diversity and ancestry in human populations. Here, we have determined high-resolution HLA-A, -B, -C, and -DRB1 allele and haplotype frequencies in a sample of 713 healthy subjects from three Mestizo populations, one population of African descent, and Amerindians of five different groups from Costa Rica and Nicaragua and compared their profiles to a large set of indigenous populations from Iberia, Sub-Saharan Africa, and the Americas. Our results show a great degree of allelic and haplotypic diversity within and across these populations, with most extended haplotypes being private. Mestizo populations show alleles and haplotypes of putative European, Amerindian, and Sub-Saharan African origin, albeit with differential proportions. Despite some degree of gene flow, Amerindians and Afro-descendants show great similarity to other Amerindian and West African populations, respectively. This is the first comprehensive study reporting high-resolution HLA diversity in Central America, and its results will shed light into the genetic history of this region while also supporting the development of medical programs for organ and stem cell transplantation.

Author List

Arrieta-Bolaños E, Madrigal-Sánchez JJ, Stein JE, Órlich-Pérez P, Moreira-Espinoza MJ, Paredes-Carias E, Vanegas-Padilla Y, Salazar-Sánchez L, Madrigal JA, Marsh SGE, Shaw BE

Author

Bronwen E. Shaw MBChB, PhD Center Director, Professor in the Medicine department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Alleles
Costa Rica
Gene Frequency
Genotype
HLA Antigens
Humans
Indians, South American
Linkage Disequilibrium
Nicaragua
Polymorphism, Genetic
Transplantation