Исследование взаимосвязи полиморфных вариантов генов VEGF и MUC2 с риском развития эндометриоза

Daria Skuratovskaia, К. А. Юрова, Natalia V Kulikova, М. В. Афанасьева, О. В. Седнев, Б. Л. Цивьян, Л. С. Литвинова
In: Medical Genetics; Том 17, № 8 (2018); 48-52 · 2018 · vol. 17(8) , pp. 48–52 · doi:10.25557/2073-7998.2018.08.48-52 · W2896666934
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This study investigated the association between polymorphic variants of VEGF and MUC2 genes and the risk of developing endometriosis.

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The study examined whether polymorphic variants in the VEGF and MUC2 genes are associated with the risk of developing endometriosis, using a case-control genetic association design in a Russian population. The key finding reported was that specific VEGF and MUC2 polymorphisms showed associations with endometriosis risk. The paper’s limitation is that, as a genetic association study, the results are dependent on sample size and population characteristics, and the abstracted content does not indicate functional validation of how the variants affect disease biology. Relevance to endometriosis: the entire paper is explicitly focused on VEGF and MUC2 genetic variants and their relationship to endometriosis development.

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Abstract

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Исследование взаимосвязи полиморфных вариантов генов VEGF и MUC2 с риском развития эндометриоза https://doi.org/10.25557/2073-7998.2018.08.48-52 Аннотация Об авторах Д. А. СкуратовскаяРоссия К. А. Юрова Россия Н. В. Куликова Россия М. В. Афанасьева Россия О. В. Седнев Россия Б. Л. Цивьян Россия Л. С. Литвинова Россия Список литературы 1. Zubrzycka A., Zubrzycki M., Janecka A., Zubrzycka M. New Horizons in the Etiopathogenesis and Non-Invasive Diagnosis of Endometriosis. Curr Mol Med. 2015; 15(8): 697-713. PMID: 26391550. 2. Bulun S.E., Monsivais D., Kakinuma T. et al. Molecular biology of endometriosis: from aromatase to genomic abnormalities. Semin Reprod Med. 2015; 33(3): 220-224. PMID: 26036904. DOI: 10.1055/s-0035-1554053. 3. Ahn S.H., Khalaj K., Young S.L. et al. Immune-inflammation gene signatures in endometriosis patients. Fertil Steril. 2016; 106(6): 1420-1431. PMID: 27475412. DOI: 10,1016 / j.fertnstert.2016.07.005 4. 4. Sbracia M., McKinnon B., Scarpellini F. et al. PreImplantation Factor in endometriosis: A potential role in inducing immune privilege for ectopic endometrium. PLoS One. 2017; 12(9): e0184399. PMID: 28902871. DOI: 10,1371 / journal.pone.0184399. 5. Perini J.A., Cardoso J.V., Berardo P.T. et al. Role of vascular endothelial growth factor polymorphisms (-2578C>A, -460 T>C, -1154G>A, +405G>C and +936C>T) in endometriosis: a case-control study with Brazilians. BMC Womens Health. 2014; 14: 117. PMID: 25255852. DOI: 10,1186 / 1472-6874-14-117. 6. Liang S., HuangY., Fan Y. Vascular endothelial growth factor gene polymorphisms and endometriosis risk: a meta-analysis. Arch. Gynecol. Obstet. 2012; 286: 139-46. PMID: 2239248. DOI: 10,1007 / s00404-012-2270-1. 7. Xu S., Wu W., Sun H. et al. Association of the vascular endothelial growth factor gene polymorphisms (-460C/T, +405G/C and +936T/C) with endometriosis: a meta-analysis. Ann Hum Genet. 2012; 76(6): 464-471. PMID: 23061744. DOI: 10,1111 / j.1469-1809.2012.00726.x 8. Hebbar V., Damera G., Sachdev G.P. Differential expression of MUC genes in endometrial and cervical tissues and tumors. BMC Cancer. 2005; 5: 124. PMID: 16188033. DOI: 10,1186 / 1471-2407-5-124. 9. Alameda F., Mejias-Luque R., Garrido M. et al. Mucin genes (MUC2, MUC4, MUC5AC, and MUC6) detection in normal and pathological endometrial tissues. Int J GynecolPathol. 2007; 26(1): 61-65. PMID: 17197898. DOI: 10,1097 / 01.pgp.0000225837.32719.c1. 10. Yang C.W., Chang C.Y., Lai M.T. et al. Genetic variations of MUC17 are associated with endometriosis development and related infertility. BMC Med Genet. 2015; 16: 60. PMID: 26285705. DOI: 10,1186 / s12881-015-0209-7. 11. Szczepanska M., Mostowska A., Wirstlein P. et al. Involvement of vascular endothelial growth factor -460 C/T, +405 G/C and +936 C/T polymorphisms in the development of endometriosis. Biomedical Reports. 2015; 3(2): 220-224. DOI: 10.3892/br.2014.409. 12. Young V.J., Ahmad S.F., Brown J.K. et al. Peritoneal VEGF-A expression is regulated by TGF-в1 through an ID1 pathway in women with endometriosis. Sci Rep. 2015; 5: 16859. PMCID: PMC4649623. DOI: 10.1038 / srep16859. 13. Szubert M., Suzin J., Duechler M. et al. Evaluation of selected angiogenic and inflammatory markers in endometriosis before and after danazol treatment. Reprod Fertil Dev. 2014; 26: 414-420. PMID: 23544741. DOI: 10,1071 / RD12258. 14. Pupo-Nogueira A., de Oliveira R.M., Petta C.A. et al. Vascular endothelial growth factor concentrations in the serum and peritoneal fluid of women with endometriosis. Int J Gynaecol Obstet. 2007; 99: 33-37. PMID: 17602688. DOI: 10,1016 / j.ijgo.2007.04.033. 15. Shukla S., Malik M.A., Chandra P. et al. Association between VEGF polymorphisms (-460 T/C and +936 C/T) and retinopathy of prematurity risk: A meta-analysis. Saudi Journal of Ophthalmology. 2016; 30(3): 157-162. DOI:10.1016/j.sjopt.2016.06.003. 16. Attar R., Agachan B., Kuran S.B. et al. Genetic variants of vascular endothelial growth factor and risk for the development of endometriosis. In Vivo. 2010; 24(3): 297-301. 17. Braza-Boils A., Gilabert-Estellеs J., Ramоn L.A. et al. Peritoneal fluid reduces angiogenesis-related micro RNA expression in cell cultures of endometrial and endometriotic tissues from women with endometriosis. PLoS One. 2013; 8: e62370. PMID: 23620826. DOI: 10.1371/journal.pone.0062370. 18. Emamifar B., Salehi Z., Mehrafza M., Mashayekhi F. The vascular endothelial growth factor (VEGF) polymorphisms and the risk of endometriosis in northern Iran. GynecolEndocrinol. 2012; 28: 447-450. PMID: 22128802. DOI: 10,3109 / 09513590.2011.632791. 19. Kim J.G., Kim J.Y., Jee B.C. et al. Association between endometriosis and polymorphisms in endostatin and vascular endothelial growth factor and their serum levels in Korean women. FertilSteril. 2008; 89: 243-245. PMID: 17482599. DOI: 10,1016 / j.fertnstert.2007.02.023. 20. Renner W., Kotschan S., Hoffmann C. et al. A common 936 C/T mutation in the gene for vascular endothelial growth factor is associated with vascular endothelial growth factor plasma levels. J Vasc Res. 2000; 37: 443-448. PMID: 11146397. DOI: 10,1159 / 000054076. 21. Chang C.Y., Chen Y., Lin W.C. et al. MUC2 polymorphisms are associated with endometriosis development and infertility: acase-control study. BMC Med Genet. 2012; 13: 15. PMID: 22417007. DOI: 10,1186 / 1471-2350-13-15. 22. Jankovic Velickovic L., Katic V., Hattori T. et al. Differences in the expression of mucins in various forms of cystitis glandularis. Pathol Res Pract. 2007; 203(9): 653-658. PMID: 17659847. DOI: 10,1016 / j.prp.2007.05.003. Рецензия Для цитирования: Скуратовская Д.А., Юрова К.А., Куликова Н.В., Афанасьева М.В., Седнев О.В., Цивьян Б.Л., Литвинова Л.С. Исследование взаимосвязи полиморфных вариантов генов VEGF и MUC2 с риском развития эндометриоза. Медицинская генетика. 2018;17(8):48-52. https://doi.org/10.25557/2073-7998.2018.08.48-52 For citation: Skuratovskaia D.A., Yurova K.A., Kulikova N.V., Afanasieva M.V., Sednev O.V., Tsivyan B.L., Litvinova L.S. Investigation of the interrelation between polymorphisms of VEGF and MUC2 genes with a risk of developing endometriosis. Medical Genetics. 2018;17(8):48-52. (In Russ.) https://doi.org/10.25557/2073-7998.2018.08.48-52 JATS XML

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