http://purl.uniprot.org/citations/20228379 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/20228379 | http://www.w3.org/2000/01/rdf-schema#comment | "Miscarriage is one of the most common pregnancy complications. Recurrent spontaneous abortion is defined as 2 or more pregnancy losses and may be associated with genetic variation. Human leukocyte antigen-G (HLA-G) is a ligand for natural killer (NK) cell receptors and has the ability to block NK cell activity, which if not blocked can potentially harm a fetus. Consequently a deletion or mutation of the HLA-G gene could lead to miscarriage. Our cases (n = 238) include Caucasian women experiencing 2 or more spontaneous abortions, and controls (n = 233) include women with at least 1 live birth and no history of SA. We sequenced approximately 1400 base pairs (bp) of the HLA-G promoter region, genotyped the 14 bp exon 8 insertion/deletion and single nucleotide polymorphism (SNP) in the coding region of HLA-G. Promoter haplotypes were constructed from sequence information. Twenty-three SNPs were observed in the promoter region with minor allele frequency >0.02. Twelve SNPs differed significantly in frequency between cases and controls. Two haplotypes incorporating these 12 SNPs accounted for 90% of haplotypes and differed significantly in frequency between the 2 populations. Cases were more likely to carry haplotype 2 (P = .0078) and controls to have haplotype 6 (P = .0004). Cases also had a higher frequency of individuals homozygous for the 14 bp insertion. Among the 12 alleles carried on haplotype 2, 5 are predicted to disrupt transcription factor binding sites. The HLA-G promoter is highly associated with the risk of spontaneous abortion, but high linkage disequilibrium in the promoter prevents assignment of the causal variant."xsd:string |
http://purl.uniprot.org/citations/20228379 | http://purl.org/dc/terms/identifier | "doi:10.1177/1933719109356802"xsd:string |
http://purl.uniprot.org/citations/20228379 | http://purl.uniprot.org/core/author | "Barmada M.M."xsd:string |
http://purl.uniprot.org/citations/20228379 | http://purl.uniprot.org/core/author | "Ferrell R.E."xsd:string |
http://purl.uniprot.org/citations/20228379 | http://purl.uniprot.org/core/author | "Berger D.S."xsd:string |
http://purl.uniprot.org/citations/20228379 | http://purl.uniprot.org/core/author | "Hogge W.A."xsd:string |
http://purl.uniprot.org/citations/20228379 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
http://purl.uniprot.org/citations/20228379 | http://purl.uniprot.org/core/name | "Reprod Sci"xsd:string |
http://purl.uniprot.org/citations/20228379 | http://purl.uniprot.org/core/pages | "331-338"xsd:string |
http://purl.uniprot.org/citations/20228379 | http://purl.uniprot.org/core/title | "Comprehensive analysis of HLA-G: implications for recurrent spontaneous abortion."xsd:string |
http://purl.uniprot.org/citations/20228379 | http://purl.uniprot.org/core/volume | "17"xsd:string |
http://purl.uniprot.org/citations/20228379 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20228379 |
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