Современные исследования генетики многофакторных заболеваний, связанных с нарушением когнитивных функций человека

Современные исследования генетики многофакторных заболеваний, связанных с нарушением когнитивных функций человека

Автор: Бочарова А.В., Степанов В.А.

Журнал: Сибирский журнал клинической и экспериментальной медицины @cardiotomsk

Рубрика: Обзоры и лекции

Статья в выпуске: 4 т.36, 2021 года.

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В представленной работе обобщены данные современных исследований, связанных с поиском генетической компоненты широко распространенных социально значимых заболеваний, которые приводят к нарушениям когнитивных функций человека. Основное внимание уделено таким патологиям многофакторной природы, как шизофрения (ШЗ) и болезнь Альцгеймера (БА). В статье приводится подробный анализ широкого спектра методов современной генетики: от близнецовых до эпигенетических исследований.

Шизофрения, болезнь альцгеймера, генетические исследования, когнитивные функции

Короткий адрес: https://sciup.org/149139366

IDR: 149139366   |   DOI: 10.29001/2073-8552-2021-36-4-37-44

Список литературы Современные исследования генетики многофакторных заболеваний, связанных с нарушением когнитивных функций человека

  • Cardno A.G., Gottesman I.I. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics. Am. J. Med. Genet. 2000;97(1):12-17.
  • Hilker R., Helenius D., Fagerlund B., Skytthe A., Christensen K., Werge T.M. et al. Heritability of schizophrenia and schizophrenia spectrum based on the Nationwide Danish Twin Register. Biol. Psychiatry. 2018;83(6):492-498. DOI: 10.1016/j.biopsych.2017.08.017.
  • Besteher B., Brambilla P., Nenadic I. Twin studies of brain structure and cognition in schizophrenia. Neurosci. Biobehav. Rev. 2020;109:103-113. DOI: 10.1016/j.neubiorev.2019.12.021.
  • Sullivan P.F., Kendler K.S., Neale M.C. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch. Gen. Psychiatry. 2003;6(12):1187-1192. DOI: 10.1001/archpsyc.60.12.1187.
  • Lambert J.C., Ibrahim-Verbaas C.A., Harold D., Naj A.C., Sims R., Bellen-guez C. et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat. Genet. 2013;45(12):1452-1458. DOI: 10.1038/ng.2802.
  • Степанов В.А., Бочарова А.В., Марусин А.В., Жукова Н.Г., Алифи-рова В.М., Жукова И.А. Репликативный анализ ассоциаций генетических маркеров когнитивных признаков с болезнью Альцгеймера в российской популяции. Молекулярная биология. 2014;48(6):952-962. DOI: 10.7868/S0026898414060160. Stepanov V.A., Bocharova A.V., Marusin A.V., Zhukova N.G., Alifirova V.M., Zhukova I.A. Replicative association analysis of genetic markers of cognitive traits with Alzheimer's disease in the Russian population. Molecular Biology. 2014;48(6):952-962 (In Russ.). DOI: 10.1134/ S0026893314060168.
  • Бочарова А.В., Степанов В.А., Марусин А.В., Харьков В.Н., Вагай-цева К.В., Федоренко О.Ю. и др. Анализ ассоциаций генетических маркеров шизофрении и ее когнитивных эндофенотипов. Генетика. 2017;53(1):100—108. DOI: 10.7868/S0016675817010039. Bocharova A.V., Stepanov V.A., Marusin A.V., Kharkov V.N., Vagaitse-va K.V., Fedorenko O.Yu. et al. Association study of genetic markers of schizophrenia and its cognitive endophenotypes. Russian Journal of Genetics. 2017;53(1):139-146 (In Russ.). DOI: 10.1134/ S1022795417010033.
  • Rajan K.B., Weuve J., Barnes L.L., Wilson R.S., Evans D.A. Prevalence and incidence of clinically diagnosed Alzheimer's disease dementia from 1994 to 2012 in a population study. Alzheimers Dement. 2019;15(1):1-7. DOI: 10.1016/j.jalz.2018.07.216.
  • Samper-Ternent R., Kuo Y.F., Ray L.A., Ottenbacher K.J., Markides K.S., Al Snih S. Prevalence of health conditions and predictors of mortality in oldest old Mexican Americans and non-Hispanic whites. J. Am. Med. Dir. Assoc. 2012;13(3):254-259. DOI: 10.1016/jjamda.2010.07.010.
  • Bigdeli T.B., Genovese G., Georgakopoulos P., Meyers J.L., Peterson R.E., lyegbe C.O. et al. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Mol. Psychiatry. 2019(10):2455-2467. DOI: 10.1038/s41380-019-0517-y.
  • Lam M., Chen C.Y., Li Z., Martin A.R., Bryois J., Ma X. et al. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nat. Genet. 2019;51(12):1670-1678. DOI: 10.1038/s41588-019-0512-x.
  • Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014;511(7510):421-427. DOI: 10.1038/nature13595.
  • Pardiñas A.F., Holmans P., Pocklington A.J., Escott-Price V., Ripke S., Carrera N. et al. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nat. Genet. 2018;50(3):381-389. DOI: 10.1038/s41588-018-0059-2.
  • Федоренко О.Ю., Иванова С.А. Новый взгляд на генетику нейро-ког-нитивного дефицита при шизофрении. Журнал неврологии и психиатрии им. C.C. Корсакова. 2020;120(8):183-192. DOI: 10.17116/ jnevro2020120081183. Fedorenko O.Y., Ivanova S.A. A new look at the genetics of neurocogni-tive deficits in schizophrenia. Zh. Nevrol. Psikhiatr. Im. S.S. Korsakova. 2020;120(8):183-192 (In Russ.). DOI: 10.17116/jnevro2020120081183.
  • Nho K., Kim S., Horgusluoglu E., Risacher S.L., Shen L., Kim D. et al. Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer's disease. BMC Medical Genomics. 2017;10(1):29. DOI: 10.1186/s12920-017-0267-0.
  • Kong A., Frigge M.L., Masson G., Besenbacher S., Sulem P., Magnus-son G. et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature. 2012; 488(7412):471-475. DOI: 10.1038/ nature11396.
  • Girard S.L., Gauthier J., Noreau A., Xiong L., Zhou S., Jouan L. et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat. Genet. 2011;43(9):860-863. DOI: 10.1038/ng.886.
  • Xu B., Roos J.L., Dexheimer P., Boone B., Plummer B., Levy S. et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat. Genet. 2011;43(9):864-868. DOI: 10.1038/ng.902.
  • Purcell S.M., Moran J.L., Fromer M., Ruderfer D., Solovieff N., Roussos P. et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature. 2014;506(7487):185-190. DOI: 10.1038/nature12975.
  • Vega-Sevey J.G., Martínez-Magaña J.J., Genis-Mendoza A.D., Es-camilla M., Lanzagorta N., Tovilla-Zarate C.A. et al. Copy number variants in siblings of Mexican origin concordant for schizophrenia or bipolar disorder. Psychiatry Res. 2020;291:113018. DOI: 10.1016/j.psy-chres.2020.113018.
  • Stefansson H., Rujescu D., Cichon S., Pietiläinen O.P., Ingason A., Steinberg S. et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008;455(7210):232-236. DOI: 10.1038/nature07229.
  • International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008;455(7210):237-241. DOI: 10.1038/nature07239.
  • Heinzen E.L., Need A.C., Hayden K.M., Chiba-Falek O., Roses A.D., Strittmatter W.J. et al. Genome-wide scan of copy number variation in late-onset Alzheimer's disease. J. Alzheimers Dis. 2010;19(1):69-77. DOI: 10.3233/JAD-2010-1212.
  • Zheng X., Demirci F.Y., Barmada M.M., Richardson G.A., Lopez O.L., Sweet R.A. et al. A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease. PLoS One. 2014;9(11):e111462. DOI: 10.1371/journal.pone.0111462.
  • Hollingworth P., Sweet R., Sims R., Harold D., Russo G., Abraham R. et al. Genomewide association study of Alzheimer's disease with psychotic symptoms. Mol. Psychiatry. 2012;17(12):1316-1327. DOI: 10.1038/ mp.2011.125.
  • De Jager P.L., Srivastava G., Lunnon K., Burgess J., Schalkwyk L.C., Yu L. et al. Alzheimer's disease: Early alterations in brain DNA meth-ylation at ANK1, BIN1, RHBDF2 and other loci. Nat. Neurosci. 2014;17(9):1156-1163. DOI: 10.1038/nn.3786.
  • Abdolmaleky H.M., Cheng K.H., Russo A., Smith C.L., Faraone S.V., Wilcox M. et al. Hypermethylation of the reelin (RELN) promoter in the brain of schizophrenic patients: A preliminary report. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005; 134B(1):60-66. DOI: 10.1002/ ajmg.b.30140.
  • Huang H.S., Akbarian S. GAD1 mRNA expression and DNA methyl-ation in prefrontal cortex of subjects with schizophrenia. PLoS One. 2007;2(8):e809. DOI: 10.1371/journal.pone.0000809.
  • Carrard A., Salzmann A., Malafosse A., Karege F. Increased DNA methylation status of the serotonin receptor 5HTR1A gene promoter in schizophrenia and bipolar disorder. J. Affect. Disord. 2011;132(3):450-453. DOI: 10.1016/j.jad.2011.03.018.
  • Alfimova M., Kondratyev N., Golov A., Golimbet V. Profiling haplotype specific CpG and CpH methylation within a schizophrenia GWAS locus on chromosome 14 in schizophrenia and healthy subjects. Sci. Rep. 2020;10(1):4704. DOI: 10.1038/s41598-020-61671-2.
  • Rao J.S., Keleshian V.L., Klein S., Rapoport S.I. Epigenetic modifications in frontal cortex from Alzheimer's disease and bipolar disorder patients. Transl. Psychiatry. 2012;2(7):e132. DOI: 10.1038/tp. 2012.55.
  • Gräff J., Rei D., Guan J.S., Wang W.Y., Seo J., Hennig K.M. et al. An epi-genetic blockade of cognitive functions in the neurodegenerating brain. Nature. 2012;483(7388): 222-226. DOI: 10.1038/nature10849.
  • Benes F.M., Lim B., Matzilevich D., Walsh J.P., Subburaju S., Minns M. Regulation of the GABA cell phenotype in hippocampus of schizophrenics and bipolars. Proc. Natl. Acad. Sci. USA. 2007;104(24):10164-10169. DOI: 10.1073/pnas.0703806104.
  • Jakovcevski M., Bharadwaj R., Straubhaar J., Gao G., Gavin D.P., Ja-kovcevski I. et al. Prefrontal cortical dysfunction after overexpression of histone deacetylase 1. Biol. Psychiatry. 2013;74(9):696-705. DOI: 10.1016/j.biopsych.2013.03.020.
  • Kurita M., Holloway T., Garcia-Bea A., Kozlenkov A., Friedman A.K., Moreno J.L. et al. HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activity. Nat. Neurosci. 2012;15(9):1245-1254. DOI: 10.1038/nn.3181.
  • Mitchell A.C., Javidfar B., Pothula V., Ibi D., Shen E.Y., Peter C.J. et al. MEF2C transcription factor is associated with the genetic and epigenetic risk architecture of schizophrenia and improves cognition in mice. Mol. Psychiatry. 2018;23(1):123-132. DOI: 10.1038/mp.2016.254.
  • Fiore R., Khudayberdiev S., Saba R., Schratt G. MicroRNA function in the nervous system. Prog. Mol. Biol. Transl. Sci. 2011;102:47-100. DOI: 10.1016/B978-0-12-415795-8.00004-0.
  • Nunez-Iglesias J., Liu C.C., Morgan T.E., Finch C.E., Zhou X.J. Joint genome-wide profiling of miRNA and mRNA expression in Alzheimer's disease cortex reveals altered miRNA regulation. PLoS One. 2010;5(2):e8898. DOI: 10.1371/journal.pone.0008898.
  • Fan X., Liu Y., Jiang J., Ma Z., Wu H., Liu T. et al. miR-20a promotes proliferation and invasion by targeting APP in human ovarian cancer cells. Acta Biochim. Biophys. Sin. 2010;42(5):318-324. DOI: 10.1093/abbs/ gmq026.
  • Vilardo E., Barbato C., Ciotti M., Cogoni C., Ruberti F. MicroRNA-101 regulates amyloid precursor protein expression in hippocampal neurons. J. Biol. Chem. 2010;285(24):18344-18351. DOI: 10.1074/jbc. M110.112664.
  • Smith P., Al Hashimi A., Girard J., Delay C., Hébert S.S. In vivo regulation of amyloid precursor protein neuronal splicing by microRNAs. J. Neuro-chem. 2011;116(2):240-247. DOI: 10.1111/j.1471-4159.2010.07097.x.
  • Guo A., Sun J., Jia P., Zhao Z. A novel microRNA and transcription factor mediated regulatory network in schizophrenia. BMC Syst. Biol. 2010;4:10. DOI: 10.1186/1752-0509-4-10.
  • Zhu Y., Kalbfleisch T., Brennan M.D., Li Y. A microRNA gene is hosted in an intron of a schizophrenia-susceptibility gene. Schizophr. Res. 2009;109(1-3):86-89. DOI: 10.1016/j.schres.2009.01.022.
  • Mellios N., Huang H.S., Baker S.P., Galdzicka M., Ginns E., Akbarian S. Molecular determinants of dysregulated GABAergic gene expression in the prefrontal cortex of subjects with schizophrenia. Biol. Psychiatry. 2009;65(12):1006-1014. DOI: 10.1016/j.biopsych.2008.11.019.
  • Aлфимова M.B., Кондратьев H.B., Голов A.K., Голимбет B.E. Метилирование ДНК в локусе MIR137HG, ассоциированном с шизофренией и интеллектом, может быть связано с заболеванием и когнитивными функциями. Генетика. 2019;55(2):207-213. DOI: 10.1134/ S0016675819020036. Alfimova M.V., Kondratiev N.V., Golov A.K., Golimbet V.E. DNA methylation at the schizophrenia and intelligence GWAS-implicated MIR137HG locus may be associated with disease and cognitive functions. Russian Journal of Genetics. 2019;55(2):232-237 (In Russ.). DOI: 10.1134/ S0026898418050026.
  • Hoffmann A., Ziller M., Spengler D. Childhood-onset schizophrenia: Insights from induced pluripotent stem cells. Int. J. Mol. Sci. 2018;19(12):3829. DOI: 10.3390/ijms19123829.
  • Lee K.M., Hawi Z.H., Parkington H.C., Parish C.L., Kumar P.V., Polo J.M. et al. The application of human pluripotent stem cells to model the neuronal and glial components of neurodevelopmental disorders. Mol. Psychiatry. 2020;25(2):368-378. DOI: 10.1038/s41380-019-0495-0.
  • Gottesman I.I., Gould T.D. The endophenotype concept in psychiatry: etymology & strategic intentions. Am. J. Psychiatry. 2003;160:636-645. DOI: 10.1176/appi.ajp.160.4.636.
  • Greenwood T.A., Swerdlow N.R., Gur R.E., Cadenhead K.S., Calkins M.E., Dobie D.J. et al. Genome-wide linkage analyses of 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia. Am. J. Psychiatry. 2013;170(5):521-532. DOI: 10.1176/appi. ajp.2012.12020186.
  • Manoach D.S., Agam Y. Neural markers of errors as endophenotypes in neuropsychiatric disorders. Front. Hum. Neurosci. 2013;7:350. DOI: 10.3389/fnhum.2013.00350.
  • Knowles E.E., Carless M.A., de Almeida M.A., Curran J.E., McKay D.R., Sprooten E. et al. Genome-wide significant localization for working and spatial memory: Identifying genes for psychosis using models of cognition. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2014;165B(1):84-95. DOI: 10.1002/ajmg.b.32211.
  • Zhang P., Zhang N., Fang S., He J., Fan L., Luo X. et al. Factor structure and measurement invariance of the Chinese version of the Snaith-Ham-ilton Pleasure Scale (SHAPS) in non-clinical and clinical populations. J. Affect. Disord. 2021;281:759-766. DOI: 10.1016/j.jad.2020.11.068.
  • Bradley E.R., Tai M., Hankin M., Woolley J.D. Preliminary evidence that oxytocin does not improve mentalizing in women with schizophrenia. Horm. Behav. 2021;128:104915. DOI: 10.1016/j.yhbeh.2020. 104915.
  • Stevens B.W., DiBattista A.M., William Rebeck G., Green A.E. A gene-brain-cognition pathway for the effect of an Alzheimer's risk gene on working memory in young adults. Neuropsychologia. 2014;61:143-149. DOI: 10.1016/j.neuropsychologia.2014.06.021.
  • Johansson L. Can stress increase Alzheimer's disease risk in women? Expert. Rev. Neurother. 2014;4(2):123-125. DOI:10.1586/14737175.20 14.878651.
  • Киренская A.B., Сторожева З.И., Ткаченко A.A. Нейрофизиологические эндофенотипы шизофрении как инструмент для изучения внимания и контроля поведения: перспективы исследований и диагностики. СПб.: Нестор-История; 2015:336. Kirenskaya A.V., Storozheva Z.I., Tkachenko A.A. Neurophysiological endophenotypes of schizophrenia as a tool for studying attention and behavior control: research and diagnostic perspectives. St. Petesburg: Nestor-History; 2015:336 (In Russ.).
  • Macedo A., Gómez C., Rebelo M.Â., Poza J., Gomes I., Martins S. et al. Risk variants in three Alzheimer's disease genes show association with EEG endophenotypes. J. Alzheimers Dis. 2021;80(1):209-223. DOI: 10.3233/JAD-200963.
  • Refisch A., Chung H.Y., Komatsuzaki S., Schumann A., Mühleisen T.W., Nöthen M.M. et al. A common variation in HCN1 is associated with heart rate variability in schizophrenia. Schizophr. Res. 2021;229:73-79. DOI: 10.1016/j.schres.2020.11.017.
  • Kohl S., Heekeren K., Klosterkotter J., Kuhn J. Prepulse inhibition in psychiatric disorders-apart from schizophrenia. J. Psychiatr. Res. 2013;47(4):445-452. DOI: 10.1016/j.jpsychires.2012.11.018.
  • Kim Y., Noh Y.W., Kim K., Kim E. Hyperactive ACC-MDT pathway suppresses prepulse inhibition in mice. Schizophr. Bull. 2021;47(1):31-43. DOI: 10.1093/schbul/sbaa090.
  • Fagan A.M., Mintun M.A., Mach R.H., Lee S.Y., Dence C.S., Shah A.R.
  • et al. Inverse relation between in vivo amyloid imaging load and cerebrospinal fluid Abeta42 in humans. Ann. Neurol. 2006;59(3):512-519. DOI: 10.1002/ana.20730.
  • Cruchaga C., Kauwe J.S., Mayo K., Spiegel N., Bertelsen S., Nowotny P. et al. SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease. PLoS Genet. 2010;6(9):e1001101. DOI: 10.1371/journal.pgen.1001101.
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