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
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 BioEdit program. 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 ZNF366 gene, 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.Pshenichnyuk E.Yu., Kuznetsova M.V., Burmenskaya O.V., Kochetkova T.O., Nepsha O.S., Trofimov D.Yu., Adamyan L.V.
Keywords
endometriosis
ovarian endometrioid cysts
deep infiltrating endometriosis
ZNF366
VEZT
Supplementary Materials
- Table 1. Clinical characteristics of patients
- Table 2. Frequency of alleles and genotypes of single-nucleotide polymorphisms of associated with various forms EGE
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Received 10.02.2017
Accepted 17.02.2017
About the Authors
Ekaterina Yu. Pshenichnyuk, PhD-student, Department of Surgical Gynecology, Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia. 119997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +79175591101. E-mail: best-kauty@mail.ruMaria V. Kuznetsova, PhD, research scientist, Laboratory of molecular-genetic methods, Research Center of Obstetrics, Gynecology and Perinatology,
Ministry of Health of Russia. 119997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954381341. Е-mail: mkarja@mail.ru
Olga V. Bourmenskaya, PhD, research scientist, Laboratory of molecular-genetic methods, Research Center of Obstetrics, Gynecology and Perinatology,
Ministry of Health of Russia. 119997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954382292. E-mail: bourmenska@mail.ru
Taisiya O. Kochetkova, biologist, Laboratory of molecular-genetic methods, Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia. 119997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954382292. E-mail: taisiya.olegovna@gmail.com
Oksana S. Nepsha, PhD, research scientist, Laboratory of Molecular-genetic methods, Research Center of Obstetrics, Gynecology and Perinatology,
Ministry of Health of Russia. 119997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +79257805767. E-mail: nepshonok@yandex.ru
D.Yu. Trofimov, DSc, Head of Laboratory of molecular-genetic methods, Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia.
119997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954384951. Е-mail: d_trofimov@oparina4.ru
Leila Vladimirovna Adamyan, M.D, professor, academician of RAS; deputy director on science, head of department of operative gynecology, Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia. 119997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954387783. E-mail: l_adamyan@oparina4.ru
For citations: Pshenichnyuk E.Yu., Kuznetsova M.V., Burmenskaya O.V., Kochetkova T.O., Nepsha O.S., Trofimov D.Yu., Adamyan L.V. 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.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2017; (6): 64-72. (in Russian)
http://dx.doi.org/10.18565/aig.2017.6.64-72
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