AN ASSOCIATION BETWEEN THE FREQUENCIES OF SINGLE NUCLEOTIDE POLYMORPHISMS IN THE ZNF366 AND VEZT GENES AND THE RISK OF EXTERNAL GENITAL ENDOMETRIOSIS: DATA ON A RUSSIAN POPULATION


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Abstract

Objective. To determine the frequency of rs10859871 and rs4703908 among women with different forms of external genital endometriosis (EGE) (ovarian endometrioid cysts (OEC), deep infiltrating endometriosis, and pelvic peritoneal endometriosis) in a Russian population. Subjects and methods. The collection included peripheral blood samples from 143 patients with EGE and 75 patients without this disease. The samples were taken directly intraoperatively. DNA in all the samples was amplified with primers to the genome regions rs10859871 and rs4703908. Sequence fragments were identified by the Sanger sequencing method. The allelic states of each single-nucleotide polymorphism were visually genotyped from chromatograms using the BioEditprogram. Results. There was a positive association between the heterozygous genotype of the C/G locus at rs4703908 and the risk of OEC (OR=1.78; 95% CI: 0.88-3.62; p > 0.05) and deep infiltrating endometriosis (OR=2.02; 95% CI: 0.85-4.73; p > 0.05). There was a positive association between the C/G locus at rs4703908 and the risk of pelvic peritoneal endometriosis (OR=1.24; 95% CI: 0.49-3.16; p > 0.05); however, OR did not exceed 1.5. There was a positive association between the homozygous genotype of the CC locus at rs10859871 and the risk of OEC (OR=5.61; 95% CI: 1.8-17.49; p < 0.01), and deep infiltrating endometriosis (OR=5.92; 95% CI: 1.68-20.83; p < 0.01) and pelvic peritoneal endometriosis (OR=4.44; 95% CI: 1.15-17.07; p < 0.05) compared with the apparently healthy women in the main comparison group. There was a negative association between the homozygous genotype of the AA locus at rs10859871 and the risk of OEC (OR=0.77; 95% CI: 0.40-1.45; p > 0.05), deep infiltrating endometriosis (OR=0.44; 95% CI: 0.19-1.00; p<0.05), pelvic peritoneal endometriosis (OR=0.58; 95% CI: 0.25-1.38;p < 0.05). Conclusion. The heterozygous genotype of the C/G locus at rs4703908, which is located near the ZNF366gene, is associated with an increased risk for OEC and deep infiltrating endometriosis in the Russian population. The homozygous genotype of the CC locus at rs10859871, which is located near the VEZT gene, provides a significantly higher risk for all forms of EGE in the Russian population (an autosomal recessive inheritance pattern). The homozygous genotype of the AA locus at rs10859871 performs a protective role and reduces the risk of OEC, deep infiltrating endometriosis, and pelvic peritoneal endometriosis. The results of this investigation make rs10859871 be a likely candidate marker, by which testing may reveal an increased risk for EGE in the women of the Russian population.

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About the authors

Ekaterina Yu. Pshenichnyuk

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: best-kauty@mail.ru
PhD-student, Department of Surgical Gynecology Moscow 117997, Ac. Oparina str. 4, Russia

Maria V. Kuznetsova

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: mkarja@mail.ru
PhD, research scientist, Laboratory of molecular-genetic methods Moscow 117997, Ac. Oparina str. 4, Russia

Olga V. Bourmenskaya

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: bourmenska@mail.ru
PhD, research scientist, Laboratory of molecular-genetic methods Moscow 117997, Ac. Oparina str. 4, Russia

Taisiya O. Kochetkova

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: taisiya.olegovna@gmail.com
biologist, Laboratory of molecular-genetic methods Moscow 117997, Ac. Oparina str. 4, Russia

Oksana S. Nepsha

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: nepshonok@yandex.ru
PhD, research scientist, Laboratory of Molecular-genetic methods Moscow 117997, Ac. Oparina str. 4, Russia

D. Yu Trofimov

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: d_trofimov@oparina4.ru
DSc, Head of Laboratory of molecular-genetic methods Moscow 117997, Ac. Oparina str. 4, Russia

Leila Vladimirovna Adamyan

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: l_adamyan@oparina4.ru
M.D, professor, academician of RAS; deputy director on science, head of department of operative gynecology Moscow 117997, Ac. Oparina str. 4, Russia

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