PMID- 21988723 OWN - NLM STAT- MEDLINE DCOM- 20120529 LR - 20221207 IS - 1399-0039 (Electronic) IS - 0001-2815 (Linking) VI - 78 IP - 5 DP - 2011 Nov TI - Genetic variation and hitchhiking between structurally polymorphic Alu insertions and HLA-A, -B, and -C alleles and other retroelements within the MHC class I region. PG - 359-77 LID - 10.1111/j.1399-0039.2011.01776.x [doi] AB - We investigated structurally polymorphic Alu insertions (POALINs) at five loci in the major histocompatibility complex (MHC) class I genomic region to determine their allele and haplotype frequencies and associations with the human leukocyte antigen (HLA)-A, -B, and -C genes in three populations, the Australian Caucasians, Japanese, and African Americans. The POALINs varied in allelic frequency between 0% and 42.3% with significant differences between populations at three of the five loci. The linkage disequilibrium (LD) between Alu insertions and the HLA-A, -B, or -C alleles and previously published polymorphic retroelements (four SVA and human endogenous retrovirus type 9 (HERVK9) loci) within the class I region of the MHC were calculated in pairwise analyses of haplotypes to show strong allelic associations and possible crossing-over events between some loci. Each POALIN was in significant LD with a variety of HLA-A, -B, or -C two-digit alleles probably as a result of hitchhiking. The POALINs helped to further stratify the HLA-A:B:C haplotypes into different POALIN:HLA-A:B:C haplotype frequencies. Of the multilocus haplotype analyses, the seven- and eight-locus haplotypes showed the largest number of differences between the populations, and fewer matched haplotypes between populations that ranged, for example, from 49% for HLA-B:HLA-A haplotypes to 7% for AluMICB:HLA-B:HLA-C:AluTF:AluHJ:HLA-A:AluHG:AluTF haplotypes in the Japanese. This comparative study of multilocus POALINs in the HLA class I region of three ethnic populations shows that POALINs alone or together with the HLA class I alleles and other retroelements are informative ancestral markers for assessing the interrelationship of HLA class I haplotype lineages, LD, and genetic diversity within the same and/or different populations. CI - (c) 2011 John Wiley & Sons A/S. FAU - Kulski, J K AU - Kulski JK AD - Centre for Forensic Science, The University of Western Australia, Nedlands, WA 6008, Australia. kulski@me.com FAU - Shigenari, A AU - Shigenari A FAU - Inoko, H AU - Inoko H LA - eng PT - Journal Article PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (HLA-A Antigens) RN - 0 (HLA-B Antigens) RN - 0 (HLA-C Antigens) RN - 0 (Histocompatibility Antigens Class I) RN - 0 (Histocompatibility Antigens Class II) SB - IM MH - Alleles MH - *Alu Elements MH - Asian People/genetics MH - Ethnicity/genetics MH - *Genes, MHC Class I MH - *Genetic Variation MH - Genetics, Population MH - Genotype MH - HLA-A Antigens/chemistry/*genetics MH - HLA-B Antigens/chemistry/*genetics MH - HLA-C Antigens/chemistry/*genetics MH - Haplotypes MH - Histocompatibility Antigens Class I/chemistry/*genetics MH - Histocompatibility Antigens Class II/genetics MH - Humans MH - Linkage Disequilibrium MH - Polymorphism, Genetic MH - White People/genetics EDAT- 2011/10/13 06:00 MHDA- 2012/05/30 06:00 CRDT- 2011/10/13 06:00 PHST- 2011/10/13 06:00 [entrez] PHST- 2011/10/13 06:00 [pubmed] PHST- 2012/05/30 06:00 [medline] AID - 10.1111/j.1399-0039.2011.01776.x [doi] PST - ppublish SO - Tissue Antigens. 2011 Nov;78(5):359-77. doi: 10.1111/j.1399-0039.2011.01776.x.