rs605059 variant of the HSD17B1 gene reduced the risk of breast cancer in women using any hormone replacement therapy (HRT) for 10 years or longer. The ''G'' allele had a protective effect on breast cancer risk (OR 0.86; p = 0.048) [R].

Mechanism: A HSD17B1-mediated decreased conversion of estrone to the more potent 17β-estradiol may reduce the estrogenic effects, thereby reducing the risk of developing breast cancer during long-term HRT use.

rs605059 is associated with an increased risk of recurrent spontaneous abortions (RSA) in our Caucasian Greek population. Thus it could be used as a prognostic genetic marker for RSA [R]. 

An inverse association was seen between isoflavone intake and breast cancer risk was limited to women with at least one ''A'' allele [RR1R2].

The ''A'' allele increased overall endometriosis risk and the risk of stage I-II disease [R].

Women especially premenopausal women carrying at least one ''A'' allele had a significant 18% reduction in risk of endometrial cancer compared with those without an A allele (OR=0.65). Also there was an inverse association between soy isoflavone intake and endometrial cancer among women with at least one A allele [R]. 

Having the ''GG'' genotype was associated with a more than 2-fold increase in risk of ovarian cancer compared with having the ''AA'' genotype (OR, 2.33; P = 0.02), and there was a significant trend of risk increase associated with each additional ''G'' allele (52% per G allele; P = 0.02) [R]. 

The A/G polymorphism was significantly associated with sperm motility (P< 0.01) [R].

The ''AA'' genotype and ''A'' allele were significantly increased in patients with uterine leiomyoma compared to healthy controls (GG vs. AA, OR 0.40; G vs. A, OR 0.68) [R].


Parent Gene: HSD17B1

Importance: 2
Less common allele: G = 48%
More common allele: A = 52%
My Genotype: Log In