Study of the structure and impact of human leukocyte antigen (HLA)-G-A, HLA-G-B, and HLA-G-DRB1 haplotypes in families with recurrent miscarriage

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A 14-base pair (bp) long insertion (ins)/deletion (del) polymorphism in exon 8 in the 3'-untranslated region of the human leukocyte antigen (HLA)-G gene is suggested to affect transcription of the gene. Carriage of the G14bp ins is associated with low levels of soluble HLA-G and increases the risk of recurrent miscarriage (RM). Due to existence of strong linkage disequilibrium (LD) in the HLA region, the primary susceptibility genes for RM in the HLA-G region have not yet been identified. HLA-A, -B, -DRB1, and -G14bp polymorphisms were investigated in 29 Caucasian families with two or more siblings suffering unexplained RM. Strong positive LD was detected between the G14bp ins and HLA-A*01, -A*11, -A*31, -B*08, and DRB1*03, whereas strong negative LD was found between G14bp ins and HLA-A*02, -A*03, and -A*24. The frequency of haplotypes with HLA-G14bp ins inherited from the mother was significantly increased in probands with RM (p = 0.05). The increased compatibility between probands and their mothers for maternal G14 ins positive haplotypes suggests that maternal-fetal compatibility for chromosomal segments adjacent to HLA-G locus is a risk factor for female offspring to experience RM in their later reproductive life.

Original languageEnglish
JournalHuman Immunology
Volume71
Issue number5
Pages (from-to)482-8
Number of pages7
ISSN0198-8859
DOIs
Publication statusPublished - May 2010

    Research areas

  • Abortion, Habitual, Female, Genetic Predisposition to Disease, HLA Antigens, HLA-A Antigens, HLA-B Antigens, HLA-DR Antigens, HLA-DRB1 Chains, HLA-G Antigens, Haplotypes, Histocompatibility Antigens Class I, Humans, Linkage Disequilibrium, Pedigree, Pregnancy, Journal Article, Research Support, Non-U.S. Gov't

ID: 188691351