2021 / 03

Следующая статья
DOI: 10.24075/vrgmu.2021.023

ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ

Полиморфизм гена CDKN2B-AS1 ассоциирован с первичной открытоугольной глаукомой у женщин Центрального Черноземья России

Н. В. Елисеева, И. В. Пономаренко, М. И. Чурносов
Информация об авторах

Белгородский государственный национальный исследовательский университет, Белгород, Россия

Для корреспонденции: Михаил Иванович Чурносов
ул. Победы, д. 85, г. Белгород, 308015; ur.ude.usb@vosonruhc

Информация о статье

Вклад авторов: Н. В. Елисеева — формирование выборки, молекулярно-генетические исследования, подготовка рукописи; И. В. Пономаренко — молекулярно-генетические исследования, статистическая обработка данных, подготовка рукописи; М. И. Чурносов — концепция исследования, редактирование рукописи; все авторы прочли и одобрили окончательный вариант рукописи.

Соблюдение этических стандартов: исследование одобрено этическим комитетом медицинского института Белгородского государственного национального исследовательского университета (протокол № 4 от 19 мая 2015 г.); все участники подписали добровольное информированное согласие на участие в исследовании.

Статья получена: 21.04.2021 Статья принята к печати: 24.05.2021 Опубликовано online: 28.05.2021
|
  1. Grzybowski A, Och M, Kanclerz P, Leffler C, Moraes CG. Primary open angle glaucoma and vascular risk factors: a review of population based studies from 1990 to 2019. J Clin Med. 2020; 9 (3): 761.
  2. Kreft D, Doblhammer G, Guthoff RF, Frech S. Prevalence. incidence and risk factors of primary open-angle glaucoma — a cohort study based on longitudinal data from a German public health in surname. BMC Public Health. 2019; 19: 851.
  3. Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology. 2014; 121: 2081–90.
  4. Liu Y, Allingham RR. Molecular genetics in glaucoma. Exp Eye Res. 2011; 93: 331–9.
  5. Свинарева Д. И. Вклад ген-генных взаимодействий полиморфных локусов матриксных металлопротеиназ в подверженность к первичной открытоугольной глаукоме у мужчин. Научные результаты биомедицинских исследований. 2020; 6 (1): 63–77.
  6. Tikunova E, Ovtcharova V, Reshetnikov E, Dvornyk V, Polonikov A, Bushueva O, et al. Genes of tumor necrosis factors and their receptors and the primary open angle glaucoma in the population of Central Russia. Int J Ophthalmol. 2017; 10: 1490–4.
  7. Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, et al. Common variants near ABCA1. AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014; (10): 1120–5.
  8. Nakano M, Ikeda Y, Tokuda Y, Fuwa M, Omi N, Ueno M, et al. Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese. PLoS One. 2012; 7 (3): e33389.
  9. Osman W, Low SK, Takahashi A, Kubo M, Nakamura Y. A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. Hum Mol Genet. 2012; 21(12): 2836–42.
  10. Shiga Y, Akiyama M, Nishiguchi KM, Sato K, Shimozawa N, Takahashi A, et al. Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. Hum Mol Genet. 2018; 27 (8): 1486–96.
  11. Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, et al. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015; 24 (13): 3880–92.
  12. Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, Olson LM, et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet. 2012; 8 (4): e1002654.
  13. GeneCards: The human gene database. Available from: https:// www.genecards.org/.
  14. Ponomarenko I, Reshetnikov E, Polonikov A, Sorokina I, Yermachenko A, Dvornyk V, et al. Candidate genes for age at menarche are associated with endometrial hyperplasia. Gene. 2020; 757: 144933.
  15. Litovkina O, Nekipelova E, Dvornyk V, Polonikov A, Efremova O, Zhernakova N, et al. Genes involved in the regulation of vascular homeostasis determine renal survival rate in patients with chronic glomerulonephritis. Gene. 2014; 546 (1): 112–6.
  16. Golovchenko O, Abramova M, Ponomarenko I, Reshetnikov E, Aristova I, Polonikov A, et al. Functionally significant polymorphisms of ESR1 and PGR and risk of intrauterine growth restriction in population of Central Russia. Eur J Obstet Gynecol Reprod Biol. 2020; 253: 52–7.
  17. GWAS Catalog. Available from: http://www.genome.gov/gwastudies/.
  18. HaploReg v4.1. Available from: https://pubs.broadinstitute.org/ mammals/haploreg/haploreg.php.
  19. PLINK. Available from: http://zzz.bwh.harvard.edu/plink/.
  20. Haploview. Available from: http://www.broad.mit.edu/mpg/haploview/.
  21. Moskalenko M, Ponomarenko I, Reshetnikov E, Dvornyk V, Churnosov M. Polymorphisms of the matrix metalloproteinase genes are associated with essential hypertension in a Caucasian population of Central Russia. Sci Rep. 2021; 11 (1): 5224.
  22. Трифонова Е. А., Спиридонова М. Г., Степанов В. А. Генетическое разнообразие и неравновесие по сцеплению в локусе метилентетрагидрофолатредуктазы. Генетика. 2008; 44 (10): 1410–19.
  23. Schaid DJ. Linkage disequilibrium testing when link age phase is unknown. Genetics. 2004; 166: 505–12.
  24. Трифонова Е. А., Спиридонова М. Г., Габидулина Т. В., Урнов Ф. Д., Пузырев В. П., Степанов В. А. Анализ структуры неравновесия по сцеплению и ассоциации полиморфных вариантов гена MTHFR с коронарным атеросклерозом. Генетика. 2012; 48 (10):1207–20.
  25. Ramdas WD, van Koolwijk LM, Ikram MK, Jansonius NM, de Jong PT, Bergen AA, et al. A genome-wide association study of optic disc parameters. PLoS Genet. 2010; 6 (6): e1000978.
  26. Fan BJ, Wang DY, Pasquale LR, Haines JL, Wiggs JL. Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population. Invest Ophthalmol Vis Sci. 2011; 52 (3): 1788–92.
  27. Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, et al. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet. 2011; 20: 2464–71.
  28. Hu Z, He C. CDKN2B gene rs1063192 polymorphism decreases the risk of glaucoma. Oncotarget. 2017; 8 (13): 21167–76.
  29. Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ. et al. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014; 5: 4883.
  30. Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Höhn R, Khor CC, et al. Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology. Genet Epidemiol. 2015; 39 (3): 207–16.
  31. Chen Y, Hughes G, Chen X, Qian S, Cao W, Wang L, et al. Genetic variants associated with different risks for high tension glaucoma and normal tension glaucoma in a Chinese population. Invest Ophthalmol Vis Sci. 2015; 56 (4): 2595–600.
  32. Nunes HF, Ananina G, Costa VP, Zanchin NIT, de Vasconcellos JPC, de Melo MB. Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil. Ophthalmic Genet. 2018; 39: 194–9.
  33. Thakur N, Kupani M, Mannan R, Pruthi A, Mehrotra S. Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis. BMC Med Genomics. 2021; 14 (1): 1.
  34. Liu Y, Hauser MA, Akafo SK, Qin X, Miura S, Gibson JR, et al. Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci. 2013; 54 (9): 6248–54.
  35. Micheal S, Ayub H, Khan MI, Bakker B, Schoenmaker-Koller FE, Ali M, et al. Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts. Mol Vis. 2014; 20: 1471–9.