Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population
Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population
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DOI：
10.1093/molehr/5.10.990
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发表时间：
1999-10-01
影响因子：
4
通讯作者：
Kennedy, SH
中科院分区：
文献类型：
--
作者：
Hadfield, RM;Manek, S;Kennedy, SH
最近在北美人群中报道了半乳糖-1-磷酸尿苷转移酶N314D多态与子宫内膜异位症之间的关联。为了确定在英国人群中是否存在这种关联，我们对148名患有散发性(n=91)或家族性(n=57)子宫内膜异位症的女性、95名男性献血者和53名子宫切除术后骨盆正常的女性进行了基因分型。14.9%(22/148)的患病女性、13.7%(13/95)的男性献血员和11.3%(6/53)的正常骨盆女性存在该基因的杂合性。在英国人群中，即使将病例分为中重度疾病组、散发性病例组或家族性病例组，病例组和对照组之间的多态频率也无统计学差异。我们得出结论，在英国人群中，半乳糖-1-磷酸尿苷转移酶N314D多态不太可能与子宫内膜异位症相关。
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.