Arrieta Bolanos, ER; madrigal, J; marsh, S; shaw, B; Salazar-Sánchez, L; (2013) High resolution HLA-A, -B, -C and -DRB1 allele and haplotype frequencies in the Costa Rica Central Valley population. Presented at: 27th annual EFI European Immunogenetics and Histocompatibility Conference, Maastricht.

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Abstract

The Costa Rica Central Valley population (CCVP) is the major population in this country, accounting for over 60% of the Costa Rican inhabitants concentrated since colonial times in a 2,500 km2 intermontane region. Interesting historic, demographic and genetic characteristics of this hybrid population have attracted researchers interested in testing genetic associations for various diseases. However, no study describing Human Leukocyte Antigen (HLA) frequencies by molecular methods had been performed. We have recently described low resolution HLA allele group and haplotype frequencies in a sample of this population. In this report, we extend our study to high resolution by sequence-based typing of exons 2, 3 and 4 for class I, and exon 2 for HLA-DRB1. DNA was extracted from blood or saliva samples from a cohort of 205 non-related healthy donors recruited as part of the University of Costa Rica’s Centre for Research in Hematology and Related Disorders (CIHATA) DNA bank. All participants were born in the CCVP and gave informed consent. A total of 37 HLA-A, 61 HLA-B, 24 HLA-C and 38 HLA-DRB1 alleles were seen in this sample. The five most frequent alleles for these genes are HLA-A*02:01:01, HLA-A*24:02:01, HLA-A*03:01:01, HLA-A*01:01:01, HLA-A*68:01:02, HLA-B*07:02:01, HLA-B*40:02:01, HLA-B*35:01:01, HLA-B*44:02:01, HLA-B*14:02:01, HLA-C*04:01:01, HLA-C*07:02:01, HLA-C*03:05, HLA-C*06:02:01, HLA-C*07:01:01, HLA-DRB1*13:01:01G, HLA-DRB1*04:07:01G, HLA-DRB1*15:01:01G, HLA-DRB1*03:01:01G, and HLA-DRB1*07:01:01G. Preliminary haplotype estimation results show, as a proxy for admixture proportions, that 68% of the extended haplotypes are Caucasian, while 23% are Amerindian in origin and 9% are clearly Sub-Saharan African. Principal coordinates analysis based on HLA-A and –B allele group frequencies reveals that this population clusters among other admixed groups with strong Caucasian component that lie closely to Iberian populations.

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