In this study, we examine the associations of 9 polymorphic loci associated with the level of sex hormone-binding globulin (SHBG) with the development of infertility in women with genital endometriosis. The study was conducted on a sample of 395 patients with genital endometriosis (132 women with genital endometriosis and concomitant infertility, 263 women with genital endometriosis without infertility), natives of the Central Black Earth Region of Russia. Genotyping of nine polymorphic loci associated with SHBG levels according to previously conducted genome-wide association studies (GWAS) was performed: rs12150660 , rs10454142 , rs780093 , rs17496332 , rs3779195 , rs440837 , rs7910927 , rs4149056 , rs8023580 . It was found that the genotype TT rs780093 is associated with a low risk of infertility in endometriosis (OR = 0.43; = 0.017; = 0.019). It has been identified that inter-locus interactions rs8023580 – rs10454142 – rs17496332 are significantly associated with the risk of infertility in genital endometriosis (WH Wald criterion = 19.15, 0.001). Combinations of genotypes rs8023580-TT – rs10454142-TT – rs17496332-AA (beta = 0.71, = 0.042), rs8023580-TC – rs10454142-CC – rs17496332-AA (beta = 1.55, = 0.025), rs8023580-TC – rs10454142-TT – rs17496332-AG (beta = 1.92, = 0.027) are risk factors for infertility in genital endometriosis. Thus, the polymorphic locus rs780093 and the inter-locus interactions rs8023580 – rs10454142 – rs17496332 are associated with the risk of infertility in endometriosis.
T.A. Ponomareva (2025) studied this question.