Studies on the Human Leukocyte Antigen Class I Antigens in Japanese Patients with Macroscopically Diagnosed Endometriosis

Abstract

An increasing number of reports suggest that endometriosis is associated with abnormal immune function, although the etiology of the disease remains undefined. The human leukocyte antigen system (HLA) is known to play a role in the etiology of a number of diseases. This study examines the possible association between the HLA system and endometriosis. Fifty-five patients diagnosed with endometriosis by laparoscopic examination were typed for HLA class I antigens – HLA-A, -B, and -C antigens – using the standard microlymphocytotoxity technique of Terasaki. The frequency of HLA-B 54 and that of HLA-Cw7 were significantly higher in the patient population than in the control population. No significant difference was found between the two groups in the frequencies of the other HLA-class I antigens. The results of this study may implicate the HLA system in the development of endometriosis.

Killer cell immunoglobulin-like receptors (KIR) and human leukocyte antigen-C (HLA-C) allorecognition patterns in women with endometriosis

“…Previous studies reported no association between HLA genotypes and endometriosis in Caucasian women with endometriosis and controls, as assessed by serological typing [46][47][48] . A serological study showed increased frequencies of the HLA-B*54 and HLA-C*07 alleles in Japanese patients with endometriosis 49 . In a recent study, PCR-restriction fragment length polymorphism analysis revealed that the HLA-DRB1*14:03 and HLA-DQB1*03:01 alleles are associated with endometriosis in Japanese women 50,51 .…”

The expression of human leukocyte antigens class I and II in women with endometriosis or adenomyosis

“…Several studies attempted to associate HLA class I or II to endometriosis in different populations but there are lot of aspects to be cleared. Serological and genetic studies in Japanese populations have demonstrated that susceptibility to endometriosis is associated with specific HLA class I or II alleles [9,18,19], whereas several other studies failed to relate HLA to endometriosis [7,8,[20][21][22]. Whang et al [22] analysed the distribution of HLA-DRB1 alleles in a Korean population with surgical and histological evidence of advanced endometriosis and could not find any differences with healthy female subjects, findings which are consistent with previous reports in Caucasian populations in which, utilising serological typing methods, no correlations in HLA class I or II allele distribution were found in women with endometriosis compared with controls [7,8,20].…”

“…HLA system plays a key role in the immune response and it seems that endometriosis shares many similarities with autoimmune diseases [5,6]. Possible associations between endometriosis and HLA have been reported in the literature more than two decades ago [7,8] while recently the HLA system has been implicated in the aetiology of endometriosis [9].…”

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

“…Furthermore, it was reported that pathogenesis of endometriosis is associated with autoimmune reactions including anti‐endometrial, anti‐nuclear and anti‐phospholipid autoantibodies as well as aberrant expression of HLA class II antigens by cells of the ectopic endometrial foci (7, 8). Serological studies and accurate molecular genomic typing in a Japanese women with endometriosis showed an increased frequency of HLA‐B54 and ‐Cw7 (9) with associated HLA‐DRB1*1403 and ‐DQB1*0301 alleles (10, 11). In another molecular typing study, endometriosis in Japanese patients was associated with the allele HLA‐B*0702 in linkage disequilibrium with the HLA‐A24 , ‐Cw*0702 and ‐DRB1*0101 alleles (12).…”

“…A previous finding by Ishii et al (11) reported that the allele HLA‐DQ*0301 was also associated with endometriosis and that HLA‐DQ is a susceptibility gene. Ishii et al (9, 10) reported that HLA‐DR*1403 was associated with endometriosis. These contradictory results obtained by us and others suggest that further analyses and duplication studies are required using an increased sample size of patients and controls together with microsatellite and HLA SNP genotyping to identify and better understand the HLA susceptibility gene region for endometriosis.…”