Polymorphic LHCGR gene loci associated with the development of uterine fibroids


Дәйексөз келтіру

Толық мәтін

Ашық рұқсат Ашық рұқсат
Рұқсат жабық Рұқсат берілді
Рұқсат жабық Рұқсат ақылы немесе тек жазылушылар үшін

Аннотация

Objective. To investigate the associations of the LHCGR polymorphism rs4374421, rs7579411, rs6729809, and rs4953616 with the development of uterine leiomyoma. Subjects and methods. The investigation enrolled 1265 women: 569 patients with uterine leiomyoma and 696 individuals in the control group. Four polymorphic loci (rs4374421, rs7579411, rs6729809, and rs4953616) of the LHCGR gene were genotyped. The associations of LHCGR gene polymorphism with the development of uterine leiomyomas, its regulatory potential, and impact on gene expression were studied. Results. The polymorphic loci rs4374421 and rs7579411 of the LHCGR gene were found to be associated with the development of uterine leiomyoma. The risk factors for the disease were the C/C genotype of rs7579411 (OR = 1.35) and TS haplotype of the polymorphic loci rs4374421-rs7579411 (OR = 1.21). The T allele (dominant model: OR=0.74) and the C/Tgenotype (OR = 0.80) rs7579411, as well as T/Cgenotype of rs4374421 (OR=0.78) are of protective value for the development of uterine leiomyoma. These polymorphic loci have a significant regulatory potential (are located in the region of histones that label promoters and enhancers in the culture cells, precursors of neurons and mesenchymal cells, etc., in the region of regulatory DNA motifs), and the polymorphism rs7579411 is associated with the expression level of the STON1- GTF2A1L gene in the thyroid gland. Conclusion. The LHCGR polymorphisms rs4374421 and rs7579411 are associated with the development of uterine leiomyoma.

Негізгі сөздер

Толық мәтін

Рұқсат жабық

Авторлар туралы

Irina Ponomarenko

Belgorod State National Research University

Email: ponomarenko_i@bsu.edu.ru
MD, associate professor of the Department of Biomedical Disciplines of the Medical Institute

Alexey Polonikov

Kursk State Medical University

Email: polonikovav@kursksmu.net
MD, Professor, Head of the Department of Biology, Medical Genetics and Ecology

Mikhail Churnosov

Belgorod State National Research University

Email: churnosov@bsu.edu.ru
MD, Professor, Head of the Department of Biomedical Disciplines Medical Faculty

Әдебиет тізімі

  1. Адамян Л.В., ред. Миома матки: диагностика, лечение и реабилитация. Клинические рекомендации по ведению больных. М.: ФГБУ «Научный Центр акушерства, гинекологии и перинатологии им. В.И. Кулакова» Минздрава России; 2015. 100с.
  2. McWilliams M.M., Chennathukuzhi V.M. Recent advances in uterine fibroid etiology. Semin. Reprod. Med. 2017;35(2):181-9.
  3. Киселев В.И., Сидорова И.С., Унанян А.Л., Муйжнек Е.Л. Гиперпластические процессы органов женской репродуктивной системы: теория и практика. М.: МЕДПРАКТИКА-М; 2010. 468с.
  4. Carranza-Mamane B., Havelock J., Hemmings R. The management of uterine fibroids in women with otherwise unexplained infertility. J. Obstet. Gynaecol. Can. 2015; 37(3): 277-85.
  5. Segars J.H., Parrott E.C., Nagel J.D., Guo X.C., Gao X., Birnbaum L.S. et al. Proceedings from the Third National Institutes of Health International Congress on Advances in Uterine Leiomyoma Research: comprehensive review, conference summary and future recommendations. Hum. Reprod. Update. 2014; 20(3): 309-33.
  6. Cardozo E.R., Clark A.D., Banks N.K., Henne M.B., Stegmann B.J., Segars J.H. The estimated annual cost of uterine leiomyomata in the United States. Am. J. Obstet. Gynecol. 2012; 206(3): 211. e1-211. e9.
  7. Moravek M.B., Yin P., Ono M., Coon J.S., Dyson M.T., Navarro A. et al. Ovarian steroids, stem cells and uterine leiomyoma: therapeutic implications. Hum. Reprod. Update. 2015; 21(1): 1-12.
  8. Sparic R., Mirkovic L., Malvasi A., Tinelli A. Epidemiology of uterine myomas: a review. Int. J. Fertil. Steril. 2016; 9(4): 424-35.
  9. Plant T.M. 60 YEARS OF NEUROENDOCRINOLOGY: The hypothalamo-pituitary-gonadal axis. J. Endocrinol. 2015; 226(2): T41-54.
  10. Wise L.A., Laughlin-Tommaso S.K. Epidemiology of uterine fibroids - from menarche to menopause. Clin. Obstet. Gynecol. 2016; 59(1): 2-24.
  11. Ward L.D., Kellis M. HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. Nucleic Acids Res. 2016; 44(D1): D877-81.
  12. Ward L.D., Kellis M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 2012; 40(Database issue): 930-4.
  13. The GTEx Consortium. Genetic effects on gene expression across human tissues. Nature. 2017; 550(7675): 204-13.
  14. Baird D.D., Kesner J.S., Dunson D.B. Luteinizing hormone in premenopausal women may stimulate uterine leiomyomata development. J. Soc. Gynecol. Investig. 2006; 13(2): 130-5.
  15. Пономаренко И.В., Чурносов М.И. Современные представления об этиопатогенезе и факторах риска лейомиомы матки. Акушерство и гинекология. 2018; 8: 27-32. leiomyoma. Akusherstvo i Ginekologiya/ Obstetrics and Gynecology. 2018; (8): 27-32. (in Russian)] https://dx.doi. org/10.18565/aig.2018.8.27-32
  16. Bassett J.H.D., Williams G.R. Role of thyroid hormones in skeletal development and bone maintenance. Endocr. Rev. 2016; 37(2): 135-87.
  17. Chen Z.J., Zhao H., He L., Shi Y., Qin Y., Shi Y. et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat. Genet. 2011; 43(1): 55-9.
  18. Shi Y., Zhao H., Shi Y., Cao Y., Yang D., Li Z. et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat. Genet. 2012; 44(9): 1020-5.
  19. Jones M.R., Brower M.A., Xu N., Cui J., Mengesha E., Chen Y.D. et al. Systems genetics reveals the functional context of PCOS loci and identifies genetic and molecular mechanisms of disease heterogeneity. PLoS Genet. 2015; 11(8): e1005455.
  20. Davis B.J., Risinger J.I., Chandramouli G.V.R., Bushel P.R., Baird D.D., Peddada S.D. Gene expression in uterine leiomyoma from tumors likely to be growing (from Black Women over 35) and tumors likely to be non-growing (from White Women over 35). PLoS One. 2013; 8(6): e63909.

Қосымша файлдар

Қосымша файлдар
Әрекет
1. JATS XML
Жүктеу

© Bionika Media, 2018

Осы сайт cookie-файлдарды пайдаланады

Біздің сайтты пайдалануды жалғастыра отырып, сіз сайттың дұрыс жұмыс істеуін қамтамасыз ететін cookie файлдарын өңдеуге келісім бересіз.< / br>< / br>cookie файлдары туралы< / a>