PMID- 22761960 OWN - NLM STAT- MEDLINE DCOM- 20130104 LR - 20221207 IS - 1932-6203 (Electronic) IS - 1932-6203 (Linking) VI - 7 IP - 6 DP - 2012 TI - Prediction of HLA class II alleles using SNPs in an African population. PG - e40206 LID - 10.1371/journal.pone.0040206 [doi] LID - e40206 AB - BACKGROUND: Despite the importance of the human leukocyte antigen (HLA) gene locus in research and clinical practice, direct HLA typing is laborious and expensive. Furthermore, the analysis requires specialized software and expertise which are unavailable in most developing country settings. Recently, in silico methods have been developed for predicting HLA alleles using single nucleotide polymorphisms (SNPs). However, the utility of these methods in African populations has not been systematically evaluated. METHODOLOGY/PRINCIPAL FINDINGS: In the present study, we investigate prediction of HLA class II (HLA-DRB1 and HLA-DQB1) alleles using SNPs in the Wolaita population, southern Ethiopia. The subjects comprised 297 Ethiopians with genome-wide SNP data, of whom 188 had also been HLA typed and were used for training and testing the model. The 109 subjects with SNP data alone were used for empirical prediction using the multi-allelic gene prediction method. We evaluated accuracy of the prediction, agreement between predicted and HLA typed alleles, and discriminative ability of the prediction probability supplied by the model. We found that the model predicted intermediate (two-digit) resolution for HLA-DRB1 and HLA-DQB1 alleles at accuracy levels of 96% and 87%, respectively. All measures of performance showed high accuracy and reliability for prediction. The distribution of the majority of HLA alleles in the study was similar to that previously reported for the Oromo and Amhara ethnic groups from Ethiopia. CONCLUSIONS/SIGNIFICANCE: We demonstrate that HLA class II alleles can be predicted from SNP genotype data with a high level of accuracy at intermediate (two-digit) resolution in an African population. This finding offers new opportunities for HLA studies of disease epidemiology and population genetics in developing countries. FAU - Tekola Ayele, Fasil AU - Tekola Ayele F AD - Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America. ayeleft@mail.nih.gov FAU - Hailu, Elena AU - Hailu E FAU - Finan, Chris AU - Finan C FAU - Aseffa, Abraham AU - Aseffa A FAU - Davey, Gail AU - Davey G FAU - Newport, Melanie J AU - Newport MJ FAU - Rotimi, Charles N AU - Rotimi CN FAU - Adeyemo, Adebowale AU - Adeyemo A LA - eng GR - Wellcome Trust/United Kingdom GR - P20 MD006899/MD/NIMHD NIH HHS/United States GR - 079791/WT_/Wellcome Trust/United Kingdom GR - ImNIH/Intramural NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Intramural PT - Research Support, Non-U.S. Gov't DEP - 20120628 PL - United States TA - PLoS One JT - PloS one JID - 101285081 RN - 0 (Histocompatibility Antigens Class II) SB - IM EIN - PLoS One. 2012;7(7): doi/10.1371/annotation/3529a6a2-4ba2-47dc-929e-399d441b0afa. Ayele, Fasil Tekola [corrected ti Tekora Ayele, Fasil]. MH - *Alleles MH - Black People/*genetics MH - Histocompatibility Antigens Class II/*genetics MH - Humans MH - *Polymorphism, Single Nucleotide PMC - PMC3386230 COIS- Competing Interests: The authors have declared that no competing interests exist. EDAT- 2012/07/05 06:00 MHDA- 2013/01/05 06:00 PMCR- 2012/06/28 CRDT- 2012/07/05 06:00 PHST- 2012/02/17 00:00 [received] PHST- 2012/06/04 00:00 [accepted] PHST- 2012/07/05 06:00 [entrez] PHST- 2012/07/05 06:00 [pubmed] PHST- 2013/01/05 06:00 [medline] PHST- 2012/06/28 00:00 [pmc-release] AID - PONE-D-12-04709 [pii] AID - 10.1371/journal.pone.0040206 [doi] PST - ppublish SO - PLoS One. 2012;7(6):e40206. doi: 10.1371/journal.pone.0040206. Epub 2012 Jun 28.