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PharmaKoVariome database for supporting genetic testing

Pharmacogenomics (PGx) provides information about routine precision medicine, based on the patient’s genotype. However, many of the available information about human allele frequencies, and about clinical drug–gene interactions, is based on American and European populations. PharmaKoVariome database...

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Detalles Bibliográficos
Autores principales: Kim, Jungeun, Choi, Jae-Pil, Kim, Min Sun, Bhak, Jong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578302/
https://www.ncbi.nlm.nih.gov/pubmed/36255213
http://dx.doi.org/10.1093/database/baac092
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author Kim, Jungeun
Choi, Jae-Pil
Kim, Min Sun
Bhak, Jong
author_facet Kim, Jungeun
Choi, Jae-Pil
Kim, Min Sun
Bhak, Jong
author_sort Kim, Jungeun
collection PubMed
description Pharmacogenomics (PGx) provides information about routine precision medicine, based on the patient’s genotype. However, many of the available information about human allele frequencies, and about clinical drug–gene interactions, is based on American and European populations. PharmaKoVariome database was constructed to support genetic testing for safe prescription and drug development. It consolidated and stored 2507 diseases, 11 459 drugs and 61 627 drug–target or druggable genes from public databases. PharmaKoVariome precomputed ethnic-specific abundant variants for approximately 120 M single-nucleotide variants of drug–target or druggable genes. A user can search by gene symbol, drug name, disease and reference SNP ID number (rsID) to statistically analyse the frequency of ethnical variations, such as odds ratio and P-values for related genes. In an example study, we observed five Korean-enriched variants in the CYP2B6 and CYP2D6 genes, one of which (rs1065852) is known to be incapable of metabolizing drug. It is also shown that 4–6% of North and East Asians have risk factors for drugs metabolized by the CYP2D6 gene. Therefore, PharmaKoVariome is a useful database for pharmaceutical or diagnostic companies for developing diagnostic technologies that can be applied in the Asian PGx industry. Database URL: http://www.pharmakovariome.com/
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spelling pubmed-95783022022-10-19 PharmaKoVariome database for supporting genetic testing Kim, Jungeun Choi, Jae-Pil Kim, Min Sun Bhak, Jong Database (Oxford) Original Article Pharmacogenomics (PGx) provides information about routine precision medicine, based on the patient’s genotype. However, many of the available information about human allele frequencies, and about clinical drug–gene interactions, is based on American and European populations. PharmaKoVariome database was constructed to support genetic testing for safe prescription and drug development. It consolidated and stored 2507 diseases, 11 459 drugs and 61 627 drug–target or druggable genes from public databases. PharmaKoVariome precomputed ethnic-specific abundant variants for approximately 120 M single-nucleotide variants of drug–target or druggable genes. A user can search by gene symbol, drug name, disease and reference SNP ID number (rsID) to statistically analyse the frequency of ethnical variations, such as odds ratio and P-values for related genes. In an example study, we observed five Korean-enriched variants in the CYP2B6 and CYP2D6 genes, one of which (rs1065852) is known to be incapable of metabolizing drug. It is also shown that 4–6% of North and East Asians have risk factors for drugs metabolized by the CYP2D6 gene. Therefore, PharmaKoVariome is a useful database for pharmaceutical or diagnostic companies for developing diagnostic technologies that can be applied in the Asian PGx industry. Database URL: http://www.pharmakovariome.com/ Oxford University Press 2022-10-18 /pmc/articles/PMC9578302/ /pubmed/36255213 http://dx.doi.org/10.1093/database/baac092 Text en © The Author(s) 2022. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Kim, Jungeun
Choi, Jae-Pil
Kim, Min Sun
Bhak, Jong
PharmaKoVariome database for supporting genetic testing
title PharmaKoVariome database for supporting genetic testing
title_full PharmaKoVariome database for supporting genetic testing
title_fullStr PharmaKoVariome database for supporting genetic testing
title_full_unstemmed PharmaKoVariome database for supporting genetic testing
title_short PharmaKoVariome database for supporting genetic testing
title_sort pharmakovariome database for supporting genetic testing
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578302/
https://www.ncbi.nlm.nih.gov/pubmed/36255213
http://dx.doi.org/10.1093/database/baac092
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