Absence of a relationship between endometriosis and the N314D polymorphismof galactose-1-phosphate uridyl transferase in a UK population

An association between the N314D polymorphism of galactose-1-phosphate urid yl transferase and endometriosis has recently been reported in a North Amer ican 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 contr ol group of 53 women with a normal pelvis at hysterectomy. Heterozygosity f or the polymorphism was found in 14.9% (22/148) of affected women, 13.7% (1 3/95) 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 p olymorphism between cases and controls in the UK population, even when the cases were divided into groups of moderate-severe disease, sporadic cases o r familial cases. We conclude that the galactose-1-phosphate uridyl transfe rase N314D polymorphism is unlikely to be associated with endometriosis in the UK population.