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<article article-type="research-article" dtd-version="1.2" xml:lang="ru" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink"><front><journal-meta><journal-id journal-id-type="issn">2658-6533</journal-id><journal-title-group><journal-title>Research Results in Biomedicine</journal-title></journal-title-group><issn pub-type="epub">2658-6533</issn></journal-meta><article-meta><article-id pub-id-type="doi">10.18413/2658-6533-2023-9-2-0-3</article-id><article-id pub-id-type="publisher-id">3074</article-id><article-categories><subj-group subj-group-type="heading"><subject>Genetics</subject></subj-group></article-categories><title-group><article-title>&lt;strong&gt;A replication study of genetic variants associated with high-level musical aptitude&lt;/strong&gt;</article-title><trans-title-group xml:lang="en"><trans-title>&lt;strong&gt;A replication study of genetic variants associated with high-level musical aptitude&lt;/strong&gt;</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Kazantseva</surname><given-names>Anastasiya V.</given-names></name><name xml:lang="en"><surname>Kazantseva</surname><given-names>Anastasiya V.</given-names></name></name-alternatives><email>Kazantsa@mail.ru</email></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Enikeeva</surname><given-names>Renata F.</given-names></name><name xml:lang="en"><surname>Enikeeva</surname><given-names>Renata F.</given-names></name></name-alternatives><email>enikeevarf@gmail.com</email></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Toropova</surname><given-names>Alla V.</given-names></name><name xml:lang="en"><surname>Toropova</surname><given-names>Alla V.</given-names></name></name-alternatives><email>allatoropova@list.ru</email></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Zakharov</surname><given-names>Ilya M.</given-names></name><name xml:lang="en"><surname>Zakharov</surname><given-names>Ilya M.</given-names></name></name-alternatives><email>iliazaharov@gmail.com</email></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Ismatullina</surname><given-names>Viktoria I.</given-names></name><name xml:lang="en"><surname>Ismatullina</surname><given-names>Viktoria I.</given-names></name></name-alternatives><email>victoria2686@gmail.com</email></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Khusnutdinova</surname><given-names>Elza K.</given-names></name><name xml:lang="en"><surname>Khusnutdinova</surname><given-names>Elza K.</given-names></name></name-alternatives><email>Elzakh@mail.ru</email></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="ru"><surname>Malykh</surname><given-names>Sergey B.</given-names></name><name xml:lang="en"><surname>Malykh</surname><given-names>Sergey B.</given-names></name></name-alternatives><email>malykhsb@mail.ru</email></contrib></contrib-group><pub-date pub-type="epub"><year>2023</year></pub-date><volume>9</volume><issue>2</issue><fpage>0</fpage><lpage>0</lpage><self-uri content-type="pdf" xlink:href="/media/medicine/2023/2/Биомед_исследования-29-38.pdf" /><abstract xml:lang="ru"><p>Background: Existing genetic studies on musical abilities have focused on various molecular approaches, which determined gene regions/variants implicated in (i) music perception and performance based on genome-wide linkage and association scans, (ii) differential expression patterns as a response to music listening/performance, (iii) music production in songbirds, and (iiii) neuronal plasticity relation to music training. The aim of the study: The present study sought to examine the main and combined effects of related gene variants in developing musical abilities in individuals from Russia. In addition, we aimed to obtain the mathematical model with the optimal sensitivity to specificity ratio to predict individual liability for high-level musical aptitude. Materials and methods: A genotyping of the SNCA (rs356168, rs3910105), GATA2 (rs9854612), PCDH7 (rs13109270, rs13146789), UNC5C (rs9307160), ASAP1 (rs3057), SBSPON (rs1007750), GRIN2B (rs3764030), and BDNF (rs6265) gene variants was performed via real-time PCR with endpoint fluorescent detection in high-level musically skilled students (N = 100, 66% of women) in Moscow (Russia) and corresponding control group (N = 200, 67% of women). The main and combined effects of examined gene variants on developing musical abilities were assessed via logistic regression models followed by a selection of the best predicting model in R v.4.1.2. Results: We obtained a regression model (AUC = 0.735, P = 0.026), which can predict a higher probability to develop musical aptitude linked to SNCA rs356168 TT-genotype (&amp;beta;=1.98, P=0.011, OR=7.31, 95%CI 1.66-38.4), SNCA rs3910105 TC-genotype (&amp;beta;=1.39, P=0.034, OR=4.16, 95%CI 1.2-16.6), GATA2 rs9854612 A-allele (&amp;beta;=0.83, P=0.082, OR=2.30, 95%CI 0.91-6.11). Moreover, a significant effect of ASAP1 rs3057 on manifestation of musical skills was observed under the dominance deviation from additivity model (&amp;beta;=2.13, P=0.032, OR=1.94, 95%CI 1.05-3.56). Conclusion: Revealed findings testify in the involvement of dopaminergic neurotransmission and reward mechanisms attributed to &amp;alpha;-synuclein- and GATA2-mediated gene effects in ability to develop exaggerated musical skills.</p></abstract><trans-abstract xml:lang="en"><p>Background: Existing genetic studies on musical abilities have focused on various molecular approaches, which determined gene regions/variants implicated in (i) music perception and performance based on genome-wide linkage and association scans, (ii) differential expression patterns as a response to music listening/performance, (iii) music production in songbirds, and (iiii) neuronal plasticity relation to music training. The aim of the study: The present study sought to examine the main and combined effects of related gene variants in developing musical abilities in individuals from Russia. In addition, we aimed to obtain the mathematical model with the optimal sensitivity to specificity ratio to predict individual liability for high-level musical aptitude. Materials and methods: A genotyping of the SNCA (rs356168, rs3910105), GATA2 (rs9854612), PCDH7 (rs13109270, rs13146789), UNC5C (rs9307160), ASAP1 (rs3057), SBSPON (rs1007750), GRIN2B (rs3764030), and BDNF (rs6265) gene variants was performed via real-time PCR with endpoint fluorescent detection in high-level musically skilled students (N = 100, 66% of women) in Moscow (Russia) and corresponding control group (N = 200, 67% of women). The main and combined effects of examined gene variants on developing musical abilities were assessed via logistic regression models followed by a selection of the best predicting model in R v.4.1.2. Results: We obtained a regression model (AUC = 0.735, P = 0.026), which can predict a higher probability to develop musical aptitude linked to SNCA rs356168 TT-genotype (&amp;beta;=1.98, P=0.011, OR=7.31, 95%CI 1.66-38.4), SNCA rs3910105 TC-genotype (&amp;beta;=1.39, P=0.034, OR=4.16, 95%CI 1.2-16.6), GATA2 rs9854612 A-allele (&amp;beta;=0.83, P=0.082, OR=2.30, 95%CI 0.91-6.11). Moreover, a significant effect of ASAP1 rs3057 on manifestation of musical skills was observed under the dominance deviation from additivity model (&amp;beta;=2.13, P=0.032, OR=1.94, 95%CI 1.05-3.56). Conclusion: Revealed findings testify in the involvement of dopaminergic neurotransmission and reward mechanisms attributed to &amp;alpha;-synuclein- and GATA2-mediated gene effects in ability to develop exaggerated musical skills.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>musical abilities</kwd><kwd>absolute pitch</kwd><kwd>synuclein</kwd><kwd>neurotransmission</kwd><kwd>brain functioning</kwd><kwd>regression model</kwd><kwd>ROC-analysis</kwd></kwd-group><kwd-group xml:lang="en"><kwd>musical abilities</kwd><kwd>absolute pitch</kwd><kwd>synuclein</kwd><kwd>neurotransmission</kwd><kwd>brain functioning</kwd><kwd>regression model</kwd><kwd>ROC-analysis</kwd></kwd-group></article-meta></front><back><ack><p>The study was supported by the State Contract of the Ministry of Science and Education of RF (№АААА-А16-116020350032-1) with partial support of the Russian Science Foundation (project no. 17-78-30028) (in the part of collection of biological materials) and the Ministry of Science and Higher Education of the Republic of Bashkortostan (agreement no. 1, December 28, 2021) (in the part of molecular-genetic analysis). 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