Полногеномное ассоциативное исследование риска развития шизофрении в Республике Башкортостан

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Аннотация

Полногеномные ассоциативные исследования оказались мощным подходом к открытию генов подверженности к шизофрении; их выводы имеют важное значение не только для нашего понимания генетической архитектуры данного заболевания, но и для потенциальных применений в области персонализированной медицины. Цель настоящего исследования – изучение генетических факторов риска развития шизофрении при проведении полногеномного анализа ассоциации в Республике Башкортостан.

Об авторах

А. Э. Гареева

Институт биохимии и генетики Уфимского федерального исследовательского центра
Российской академии наук; Башкирский государственный медицинский университет

Автор, ответственный за переписку.
Email: annagareeva@yandex.ru
Россия, 450054, Уфа; Россия, 450008, Уфа

Список литературы

  1. Lam M., Chen C.Y., Li Z. et al. Comparative genetic architectures of schizophrenia in East Asian and European populations // Nat. Genet. 2019. V. 51. № 12. P. 1670–1678. https://doi.org/10.1038/s41588-019-0512-x
  2. Bigdeli T.B., Genovese G., Georgakopoulos P. et al. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry // Mol. Psychiatry. 2020. V. 10. № 10. P. 2455–2467. https://doi.org/1038/s41380-019-0517-y
  3. Trubetskoy V., Pardiñas A.F., Qi T. et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia // Nature. 2022. V. 604. № 7906. P. 502–508. https://doi.org/10.1038/s41586-022-04434-5
  4. Singh T., Poterba T., Curtis D. et al. Rare coding variants in ten genes confer substantial risk for schizophrenia // Nature. 2022. V. 604. P. 509–516. https://doi.org/10.1038/s41586-022-04556-w
  5. Mathew C.C. The isolation of high molecular weight eucariotic DNA // Methods in Molecular Biology / Ed. Walker J.M. N.Y.: Haman Press, 1984. V. 2. P. 31–34.
  6. Purcell S., Neale B., Todd-Brown K. et al. PLINK: A toolset for whole-genome association and population-based linkage analysis // Am. J. Hum. Genet. 2007. V. 81. № 3. P. 559–575. https://doi.org/10.1086/519795
  7. Benjamini Y., Drai D., Elmer G. et al. Controlling the false discovery rate in behavior genetics research // Behav. Brain Res. 2001. V. 125. № 1–2. P. 279–284. https://doi.org/10.1016/s0166-4328(01)00297-2
  8. Price A.L., Patterson N.J., Plenge R.M. et al. Principal components analysis corrects for stratification in genome-wide association studies // Nat. Genet. 2006. V. 38. № 8. P. 904–909. https://doi.org/10.1038/ng1847
  9. Le Tanno P., Breton J., Bidart M. et al. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans // J. Med. Genet. 2017. V. 54. № 7. P. 502–510. https://doi.org/10.1136/jmedgenet-2016-104435
  10. Mann R.S., Affolter M. Hox proteins meet more partners // Curr. Opin. Genet. Dev. 1998. V. 8. № 4. P. 423–429. https://doi.org/10.1016/s0959-437x(98)80113
  11. Moens C.B., Selleri L. Hox cofactors in vertebrate development // Dev. Biol. 2006. V. 291. № 2. P. 193–206. https://doi.org/10.1016/j.ydbio.2005.10.032
  12. Luo M., Gu X., Zhou T., Chen C. Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene // Mol. Cytogenet. 2022. V. 15. № 1. P. 53. https://doi.org/10.1186/s13039-022-00632-y
  13. Ferretti E., Cambronero F., Tümpel S. et al. Hoxb1 enhancer and control of rhombomere 4 expression: Complex interplay between PREP1–PBX1–HOXB1 binding sites // Mol. Cell. Biol. 2005. V. 25. № 19. P. 8541–8552. https://doi.org/10.1128/MCB.25.19.8541-8552.2005
  14. Takács-Vellai K., Vellai T., Chen E.B. et al. Transcriptional control of Notch signaling by a HOX and a PBX/EXD protein during vulval development in C. elegans // Dev. Biol. 2007. V. 302. № 2. P. 661–669. https://doi.org/10.1242/dev.050567
  15. Selleri L., Depew M.J., Jacobs Y. et al. Requirement for Pbx1 in skeletal patterning and programming chondrocyte proliferation and differentiation // Development. 2001. V. 128. № 18. P. 3543–3557. https://doi.org/10.1242/dev.128.18.3543
  16. Fernandez-Diaz L.C., Laurent A., Girasoli S. et al. The absence of Prep1 causes p53–dependent apoptosis of mouse pluripotent epiblast cells // Development. 2010. V. 137. № 20. P. 3393–3403. https://doi.org/10.1242/dev.050567
  17. Monteiro M.C., Sanyal M., Cleary M.L. et al. PBX1: A novel stage-specific regulator of adipocyte development // Stem. Cells. 2011. V. 29. № 11. P. 1837–1848. https://doi.org/10.1002/stem.737
  18. Gurling H.M., Kalsi G., Brynjolfson J. et al. Genome-wide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21–22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3–24 and 20q12.1–11.23 // Am. J.Hum. Genet. 2001. V. 68. № 3. P. 661–673. https://doi.org/10.1002/stem.737
  19. Chowdari K.V., Mirnics K., Semwal P. et al. Association and linkage analyses of RGS4 polymorphisms in schizophrenia // Hum. Mol. Genet. 2002. V. 11. № 12. P. 1373–1380. https://doi.org/10.1093/hmg/11.12.1373
  20. Chowdari K.V., Bamne M., Wood J. et al. Linkage disequilibrium patterns and functional analysis of RGS4 polymorphisms in relation to schizophrenia // Schizophr. Bull. 2008. V. 34. № 1. P. 118–126. https://doi.org/10.1093/schbul/sbm042
  21. Puri V., McQuillin A., Datta S. et al. Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3 // Eur. J. Hum. Genet. 2008. V. 16. № 10. P. 1275–1282. https://doi.org/10.1038/ejhg.2008.76
  22. Need A.C., Ge D., Weale M.E. et al. A genome wide investigation of SNPs and CNVs in schizophrenia // PLoS Genet.2009. V. 5. № 2. P. e1000373. https://doi.org/10.1371/journal.pgen.1000373
  23. Holliday E.G., McLean D.E., Nyholt D.R., Mowry B.J. Susceptibility locus on chromosome 1q23–25 for a schizophrenia subtype resembling deficit schizophrenia identified by latent class analysis // Arch. Gen. Psychiatry. 2009. V. 66. № 10. P. 1058–1067. https://doi.org/10.1001/archgenpsychiatry.2009.136
  24. Liou Y.J., Wang H.H., Lee M.T. et al. Genome-wide association study of treatm.nt refractory schizophrenia in Han Chinese // PLoS One. 2012. V. 7. № 3. P. e33598. https://doi.org/10.1371/journal.pone.0033598
  25. Shriebman Y., Yitzhaky A., Kosloff M., Hertzberg L. Gene expression meta-analysis in patients with schizophrenia reveals up-regulation of RGS2 and RGS16 in Brodmann Area 10 // Eur. J. Neurosci. 2023. V. 57. № 2. P. 360–372. https://doi.org/10.1111/ejn.15876
  26. Cheah S.Y., Lawford B.R., Young R.M. et al. Association of NOS1AP variants and depression phenotypes in schizophrenia // J. Affect. Disord. 2015. V. 188. P. 263–269. https://doi.org/10.1016/j.jad.2015.08.069
  27. Melo-Felippe F.B., Fontenelle L.F., Kohlrausch F.B. Gene variations in PBX1, LMX1A and SLITRK1 are associated with obsessive-compulsive disorder and its clinical features // J. Clin. Neurosci. 2019. V. 61. P. 180–185. https://doi.org/10.1016/j.jocn.2018.10.042
  28. Smith E.N., Bloss C.S., Badner J.A. et al. Genome-wide association study of bipolar disorder in European American and African American individuals // Mol. Psychiatry. 2009. V. 14. № 8. P. 755–763. https://doi.org/10.1038/ejhg.2008.76
  29. Namkung J., Kim Y., Park T. Whole-genome association studies of alcoholism with loci linked to schizophrenia susceptibility // BMC Genet. 2005. V. 6. Suppl. 1. P. S9.
  30. Sun M., Lou J., Li Q. et al. Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene // Taiwan J. Obstet. Gynecol. 2019. V. 58. № 2. P. 292–295. https://doi.org/10.1016/j.tjog.2019.01.022
  31. Luo M., Gu X., Zhou T., Chen C. Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene // Mol. Cytogenet. 2022. V. 15. № 1. P. 53. https://doi.org/10.1186/s13039-022-00632-y
  32. Hoshina T., Seto T., Shimono T. et al. Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion // Hum. Genome Var. 2019. V. 6. P. 47. https://doi.org/10.1038/s41439-019-0079-1

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© А.Э. Гареева, 2023