Human Reproduction · 2003 · 34 citations · 27 references
Life SciencesGeneticsImmunologyHuman GeneticsImmunogeneticsReproductive ImmunologyEndometriosisHla TypingHla Allele PolymorphismHla AllelesHla Class Ii MoleculesHla Class Ii TypingHla Genotype AssociationsMatched Control GroupMolecular Hla TypingRestriction Fragment Length Polymorphism Analysis
BACKGROUND: Although the aetiology of endometriosis remains unclear, many immunological abnormalities involving changes in cell-mediated and humoral immunity may be associated with endometriosis. Several disorders are thought to be associated with particular HLA antigen types. This study examines the possible association between HLA-DQ and DP. METHODS: A total of 83 patients diagnosed with endometriosis following laparoscopic examination were typed for the HLA-DQB1 and DPB1 alleles using PCR-restriction fragment length polymorphism (RFLP). The HLA DQB1 and DPB1 allele frequencies in these patients and in 222 controls were compared. RESULTS: The prevalence of HLA-DQB1*0301 in the patient group was 16.3% (27/166 alleles), compared with 8.3% in the overall control group (37/444 alleles) and 7.7% in the females of the control group (18/234 alleles). Thus, the prevalence of the HLA-DQB1*0301 allele was significantly greater in patients with endometriosis, compared with the general controls [OR 2.13, 95% CI 1.25-3.64, P = 0.004 (chi(2) analysis), Corrected P-values; Pc = 0.049] and with the general female controls [OR 2.33, 95% CI 1.24-4.39, P = 0.008 (chi(2) analysis), Pc; NS]. There was no significant association in the frequencies of DPB1 alleles between the patients and controls. CONCLUSIONS: The HLA systems may be involved in the aetiology of endometriosis, although further study is needed.
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Heritable aspects of endometriosis
Joe Leigh Simpson, Sherman Elias, L. Russell Malinak et al. · American Journal of Obstetrics and Gynecology · 1980 · 457 citations
Medicine, Genetics, Gynecology +10
Genetic influences on endometriosis in an Australian twin sample
Susan A. Treloar, Daniel T. O’Connor, Vivienne O’Connor et al. · Fertility and Sterility · 1999 · 345 citations · Full text
Medicine, Genetics, Obstetrics +13