Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 12372463
Gene Name CYP2B6
Condition Endometriosis (Pelvic)
Association Associated
Population size 60
Population details 60 subjects of reproductive age undergoing laparoscopy for subfertility exploration, pain assessment, or sterilization
Sex Female
Infertility type Female infertility
Associated genes P450
Other associated phenotypes Pelvic endometriosis, Infertility
Aromatase P450 messenger RNA expression in eutopic endometrium is not a specific marker for pelvic endometriosis.

Fertil Steril. 2002 Oct;78(4):825-9.

Dheenadayalu, Kavitha| Mak, Ian| Gordts, Stephan| Campo, Rudi| Higham, Jenny| Puttemans, Patrick| White, John| Christian, Mark| Fusi, Luca| Brosens, Jan

Department of Obstetrics and Gynaecology, Ealing Hospital, London, United Kingdom.

OBJECTIVE: To determine whether expression of aromatase P450 mRNA in eutopic endometrium is predictive of the presence of pelvic endometriosis. DESIGN: A prospective, multicenter, observational study. SETTING: Four tertiary centers for reproductive medicine. PATIENT(S): Sixty subjects of reproductive age undergoing laparoscopy for subfertility exploration, pain assessment, or sterilization. INTERVENTION(S): Endometrial biopsy at time of laparoscopy. MAIN OUTCOME MEASURE(S): The expression of aromatase P450 mRNA in endometrial specimens was determined by single-tube reverse transcription-polymerase chain reaction (RT-PCR). Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) mRNA was amplified in parallel to exclude amplification failure. RESULT(S): The RT-PCR amplification was successful in 56 of the 60 biopsies (93%). Pelvic endometriosis was diagnosed in 34 patients (61%) and was strongly associated with aromatase P450 mRNA expression in eutopic endometrium. As a diagnostic marker for endometriosis, aromatase P450 mRNA expression yielded a sensitivity of 82%, a specificity of 59%, a positive predictive value of 76%, and a negative predictive value of 67%. If additional uterine pathology was taken in account, the sensitivity increased to 84%, the specificity to 72%, the positive predictive value to 87%, but the negative predictive value remained unchanged (67%). CONCLUSION(S): Although endometrial aromatase P450 gene expression is highly predictive of the presence of pelvic disease, the relative high incidence of false-negative results and lack of specificity is likely to impair clinical application.

Mesh Terms: Adult| Aromatase/*genetics| Biomarkers/*analysis| Biopsy| Endometriosis/*enzymology| Endometrium/*enzymology| False Negative Reactions| Female| Glyceraldehyde-3-Phosphate Dehydrogenases/genetics| Humans| Laparoscopy| Middle Aged| Prospective S