title: Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population.
abstract: An association between the N314D polymorphism of galactose-1-phosphate uridyl transferase and endometriosis has recently been reported in a North American population. To determine whether such an association exists in the UK population, we genotyped 148 women with sporadic (n = 91) or familial (n = 57) endometriosis, a control population of 95 male blood donors and a control group of 53 women with a normal pelvis at hysterectomy. Heterozygosity for the polymorphism was found in 14.9% (22/148) of affected women, 13.7% (13/95) of male blood donors and 11.3% (6/53) of women with a normal pelvis. There was no statistically significant difference in the frequency of the polymorphism between cases and controls in the UK population, even when the cases were divided into groups of moderate-severe disease, sporadic cases or familial cases. We conclude that the galactose-1-phosphate uridyl transferase N314D polymorphism is unlikely to be associated with endometriosis in the UK population.
authors.affiliation: Nuffield Department of Obstetrics & Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
authors.forename: R M
authors.initials: RM
authors.lastname: Hadfield
authors.forename: S
authors.initials: S
authors.lastname: Manek
authors.forename: S
authors.initials: S
authors.lastname: Nakago
authors.forename: S
authors.initials: S
authors.lastname: Mukherjee
authors.forename: D E
authors.initials: DE
authors.lastname: Weeks
authors.forename: H J
authors.initials: HJ
authors.lastname: Mardon
authors.forename: D H
authors.initials: DH
authors.lastname: Barlow
authors.forename: S H
authors.initials: SH
authors.lastname: Kennedy
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D004715:Endometriosis / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*; D006113:United Kingdom
chemical_list: D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase