Mapping of susceptibility locus for endometriosis within the HLA region using microsatellite markers in Japanese women

Abstract

Endometriosis is a female disorder characterized by the presence of uterine endometrial tissue in ectopic loci. Previous studies reported a higher prevalence of particular human leukocyte antigen (HLA) in endometriosis. In order to confirm the association between endometriosis and the HLA region, 15 polymorphic microsatellite markers distributed in the HLA class II to class III region were subjected to association analysis by polymerase chain reaction (PCR)-based DNA typing of 89 patients and 136 healthy controls. Statistical analysis of the allelic frequency at each microsatellite locus showed that there were no statistically significant differences in the allele frequency distributions between the cases and controls. This finding suggests that the etiology of endometriosis does not involve the HLA class II genomic region and a portion of class III genomic region in the Japanese population.

Standardized genotyping of HLA STR by CE as surrogate for HLA class I and II markers and for identification of HLA identical siblings

“…So far NGS/MPS is limited to highly specialized and adequately equipped laboratories . STR loci in the HLA region (HLA STR) can be investigated for population genetics, disease association and recombination studies, major histocompatibility complex region mapping, and selection of donors for transplantation . Linkage disequilibria (LD) of STRs have already been suggested and observed with HLA alleles and haplotypes .…”