Association study of genetic markers of schizophrenia and its cognitive endophenotypes

Бочарова, А. В.; Степанов, В. Г.; Marusin, Andrey; Kharkov, V. N.; Вагайцева, К. В.; Fedorenko, Olga Yu; Бохан, Н. А.; Semke, A.; Ivanova, Svetlana A.

doi:10.1134/s1022795417010033

Cited by 15 publications

(7 citation statements)

References 22 publications

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“…Так, последний метаанализ показал, что минорный аллель А имеет протективный эффект в отношении риска развития заболевания только у европеоидов [6]. При этом в популяции русских из Сибирского региона не было найдено значимой ассоциации между rs7341475 и шизофренией [24]. А при изучении русских и татар Волжского региона ассоциация была выявлена только у татар.…”

Section: Discussionunclassified

“…Частота генотипов по полиморфному сайту rs7341475 составила: GG -377 человек (0,68), GA -161 (0,29), AA -18 (0,3), при частоте минорного аллеля A равной 0,18. Распределение генотипов соответствовало закону Харди-Вайнберга (X 2 =0,03, p>0,05), а также данным, полученным ранее для русской популяции Сибири [24].…”

Section: результатыunclassified

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Relationships of rs7341475 polymorphism and DNA methylation in the reelin gene with schizophrenia symptoms

Алфимова¹,

Kondratyev²,

Golov³

et al. 2018

Z. nevrol. psikhiatr. im. S.S. Korsakova

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Ген RELN, расположенный на хромосомном участке 7q22.1 и кодирующий белок внеклеточного матрикса рилин, рассматривается как один из важных факторов, модифицирующих риск и проявления шизофрении [1, 2]. Это объясняется ролью рилина в развитии нервной системы, в частности в процессах миграции и позиционировании нейронов в эмбриональном периоде. Кроме того, имеются данные о снижении уровня этого гликопротеина в аутопсийных образцах мозга больных шизофренией [1, 2]. При полногеномном анализе данных выявлена ассоциация одно

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Section: Discussionunclassified

Section: результатыunclassified

Relationships of rs7341475 polymorphism and DNA methylation in the reelin gene with schizophrenia symptoms

Алфимова¹,

Kondratyev²,

Golov³

et al. 2018

Z. nevrol. psikhiatr. im. S.S. Korsakova

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“…Association of this genetic variant with cognitive and memory functions initially reported for European SZ patients [ 7 ] was confirmed for normal Greek population, but was not replicated in Norwegian healthy cohort [ 17 ]. Another intronic variant in CSMD1, rs2616984, was associated with cognitive performance in European GWAS [ 9 ] and recently was found as susceptibility marker for both SZ and Alzheimer's disease in Russians [ 10 , 11 ], but not in Central Asian Kazakh population [ 18 ]. Other CSMD1 SNPs were also reported to be associated with cognitive and memory functions in healthy Norwegians [ 17 ], with cognitive decline in Alzheimer's disease in patients of European descent [ 19 ], as well as with clinical outcomes of SZ in Japanese [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…Another intronic variant in CSMD1, rs2616984, located 302 kb away, was found as genome-wide significant for the performance on standardized cognitive tests [ 9 ]. Recently we have demonstrated the association of the latter genetic variant with both SZ and Alzheimer's disease in a Russian population [ 10 , 11 ]. These data suggested that neuropsychological effects of CSMD1 and the plausible role of its genetic variation in schizophrenia and other neuropsychiatric diseases are based on common underlying neurological mechanism developed via cognitive endophenotypes.…”

Section: Introductionmentioning

confidence: 99%

Genetic Variants in CSMD1 Gene Are Associated with Cognitive Performance in Normal Elderly Population

Степанов

Marusin

Вагайцева

et al. 2017

Genetics Research International

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Recently, genetic markers rs10503253 and rs2616984 in the CUB and Sushi multiple domains-1 (CSMD1) gene have been reported to be associated with schizophrenia and cognitive functions in genome-wide association studies. We examined the associations of the above SNPs with cognitive performance evaluated by the Montreal Cognitive Assessment (MoCA) tool in a cohort of the normal elderly from the Russian population. Significant association of rs2616984 genotypes with the MoCA scores was found using nonparametric analysis. No association of rs10503253 with MoCA scores was observed using both parametric and nonparametric statistics. Significant combined effect of two-locus CSMD1 genotypes on MoCA scores was demonstrated by median test. Allele “A” and genotype “AA” of rs2616984 were significantly associated with the lower MoCA scores in comparison of 1st and 4th quartiles of MoCA total score distribution. The results suggest that genetic variants in CSMD1 gene are likely a part of genetic component of cognitive performance in the elderly.

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“…In a replication study at the RIMG, 50 SNPs found in GWASs of SZ, AD, and cognitive endophenotypes were studied in Russian and Kazakh patients with AD and SZ [10–12]. SNPs in regions of eight genes, including APOЕ , were associated with AD in the Russian participants.…”

Section: The Modern Landscape Of Psychiatric Genetics In the Russian mentioning

confidence: 99%

Opening up new horizons for psychiatric genetics in the Russian Federation: moving toward a national consortium

et al. 2019

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We provide an overview of the recent achievements in psychiatric genetics research in the Russian Federation and present genotype-phenotype, population, epigenetic, cytogenetic, functional, ENIGMA, and pharmacogenetic studies, with an emphasis on genome-wide association studies. The genetic backgrounds of mental illnesses in the polyethnic and multicultural population of the Russian Federation are still understudied. Furthermore, genetic, genomic, and pharmacogenetic data from the Russian Federation are not adequately represented in the international scientific literature, are currently not available for meta-analyses and have never been compared with data from other populations. Most of these problems cannot be solved by individual centers working in isolation but warrant a truly collaborative effort that brings together all the major psychiatric genetic research centers in the Russian Federation in a national consortium. For this reason, we have established the Russian National Consortium for Psychiatric Genetics (RNCPG) with the aim to strengthen the power and rigor of psychiatric genetics research in the Russian Federation and enhance the international compatibility of this research.The consortium is set up as an open organization that will facilitate collaborations on complex biomedical research projects in human mental health in the Russian Federation and abroad. These projects will include genotyping, sequencing, transcriptome and epigenome analysis, metabolomics, and a wide array of other state-of-the-art analyses. Here, we discuss the challenges we face and the approaches we will take to unlock the huge potential that the Russian Federation holds for the worldwide psychiatric genetics community.

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Association study of genetic markers of schizophrenia and its cognitive endophenotypes

Cited by 15 publications

References 22 publications

Relationships of rs7341475 polymorphism and DNA methylation in the reelin gene with schizophrenia symptoms

Relationships of rs7341475 polymorphism and DNA methylation in the reelin gene with schizophrenia symptoms

Genetic Variants in CSMD1 Gene Are Associated with Cognitive Performance in Normal Elderly Population

Opening up new horizons for psychiatric genetics in the Russian Federation: moving toward a national consortium

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