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Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?

Bipolar disorder (BD) is amongst the most common heritable mental disorders, but the clarification of its genetic roots has proven to be very challenging. Many single nucleotide polymorphisms (SNPs) have been identified to be associated with BD. SNPs in the CACNA1C gene have emerged as the most sign...

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Autores principales: Piras, Martina, Scano, Alessandra, Orrù, Germano, Preti, Antonio, Marchese, Cinzia, Kalcev, Goce
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728559/
https://www.ncbi.nlm.nih.gov/pubmed/35173786
http://dx.doi.org/10.2174/1745017902117010187
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author Piras, Martina
Scano, Alessandra
Orrù, Germano
Preti, Antonio
Marchese, Cinzia
Kalcev, Goce
author_facet Piras, Martina
Scano, Alessandra
Orrù, Germano
Preti, Antonio
Marchese, Cinzia
Kalcev, Goce
author_sort Piras, Martina
collection PubMed
description Bipolar disorder (BD) is amongst the most common heritable mental disorders, but the clarification of its genetic roots has proven to be very challenging. Many single nucleotide polymorphisms (SNPs) have been identified to be associated with BD. SNPs in the CACNA1C gene have emerged as the most significantly associated with the disease. The aim of the present study is to provide a concise description of SNP 1006737 variants identified by Real Time PCR and confirm sequencing analysis with the Sanger method in order to estimate the association with BD. The molecular method was tested on 47 Sardinian subjects of whom 23 were found to not be mutated, 1 was found to be a carrier of the homozygous A allele and 23 were found to be carriers of the heterozygous G allele. Moreover, the positive results of the preliminary application suggest that the development of the screener could be extended to the other 5 genetic variables identified as associated with BD.
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spelling pubmed-87285592022-02-15 Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile? Piras, Martina Scano, Alessandra Orrù, Germano Preti, Antonio Marchese, Cinzia Kalcev, Goce Clin Pract Epidemiol Ment Health Article Bipolar disorder (BD) is amongst the most common heritable mental disorders, but the clarification of its genetic roots has proven to be very challenging. Many single nucleotide polymorphisms (SNPs) have been identified to be associated with BD. SNPs in the CACNA1C gene have emerged as the most significantly associated with the disease. The aim of the present study is to provide a concise description of SNP 1006737 variants identified by Real Time PCR and confirm sequencing analysis with the Sanger method in order to estimate the association with BD. The molecular method was tested on 47 Sardinian subjects of whom 23 were found to not be mutated, 1 was found to be a carrier of the homozygous A allele and 23 were found to be carriers of the heterozygous G allele. Moreover, the positive results of the preliminary application suggest that the development of the screener could be extended to the other 5 genetic variables identified as associated with BD. Bentham Science Publishers 2021-12-22 /pmc/articles/PMC8728559/ /pubmed/35173786 http://dx.doi.org/10.2174/1745017902117010187 Text en © 2021 Piras et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Article
Piras, Martina
Scano, Alessandra
Orrù, Germano
Preti, Antonio
Marchese, Cinzia
Kalcev, Goce
Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?
title Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?
title_full Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?
title_fullStr Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?
title_full_unstemmed Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?
title_short Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?
title_sort can an investigation of a single gene be effective in differentiating certain features of the bipolar disorder profile?
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728559/
https://www.ncbi.nlm.nih.gov/pubmed/35173786
http://dx.doi.org/10.2174/1745017902117010187
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