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Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples

Single-nucleotide polymorphisms (SNPs) have been emerging out of the efforts to research human diseases and ethnic disparities. A semantic network is needed for in-depth understanding of the impacts of SNPs, because phenotypes are modulated by complex networks, including biochemical and physiologica...

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Autores principales: Kim, HyoYoung, Yoo, Won Gi, Park, Junhyung, Kim, Heebal, Kang, Byeong-Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korea Genome Organization 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990764/
https://www.ncbi.nlm.nih.gov/pubmed/24748859
http://dx.doi.org/10.5808/GI.2014.12.1.35
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author Kim, HyoYoung
Yoo, Won Gi
Park, Junhyung
Kim, Heebal
Kang, Byeong-Chul
author_facet Kim, HyoYoung
Yoo, Won Gi
Park, Junhyung
Kim, Heebal
Kang, Byeong-Chul
author_sort Kim, HyoYoung
collection PubMed
description Single-nucleotide polymorphisms (SNPs) have been emerging out of the efforts to research human diseases and ethnic disparities. A semantic network is needed for in-depth understanding of the impacts of SNPs, because phenotypes are modulated by complex networks, including biochemical and physiological pathways. We identified ethnicity-specific SNPs by eliminating overlapped SNPs from HapMap samples, and the ethnicity-specific SNPs were mapped to the UCSC RefGene lists. Ethnicity-specific genes were identified as follows: 22 genes in the USA (CEU) individuals, 25 genes in the Japanese (JPT) individuals, and 332 genes in the African (YRI) individuals. To analyze the biologically functional implications for ethnicity-specific SNPs, we focused on constructing a semantic network model. Entities for the network represented by "Gene," "Pathway," "Disease," "Chemical," "Drug," "ClinicalTrials," "SNP," and relationships between entity-entity were obtained through curation. Our semantic modeling for ethnicity-specific SNPs showed interesting results in the three categories, including three diseases ("AIDS-associated nephropathy," "Hypertension," and "Pelvic infection"), one drug ("Methylphenidate"), and five pathways ("Hemostasis," "Systemic lupus erythematosus," "Prostate cancer," "Hepatitis C virus," and "Rheumatoid arthritis"). We found ethnicity-specific genes using the semantic modeling, and the majority of our findings was consistent with the previous studies - that an understanding of genetic variability explained ethnicity-specific disparities.
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spelling pubmed-39907642014-04-18 Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples Kim, HyoYoung Yoo, Won Gi Park, Junhyung Kim, Heebal Kang, Byeong-Chul Genomics Inform Original Article Single-nucleotide polymorphisms (SNPs) have been emerging out of the efforts to research human diseases and ethnic disparities. A semantic network is needed for in-depth understanding of the impacts of SNPs, because phenotypes are modulated by complex networks, including biochemical and physiological pathways. We identified ethnicity-specific SNPs by eliminating overlapped SNPs from HapMap samples, and the ethnicity-specific SNPs were mapped to the UCSC RefGene lists. Ethnicity-specific genes were identified as follows: 22 genes in the USA (CEU) individuals, 25 genes in the Japanese (JPT) individuals, and 332 genes in the African (YRI) individuals. To analyze the biologically functional implications for ethnicity-specific SNPs, we focused on constructing a semantic network model. Entities for the network represented by "Gene," "Pathway," "Disease," "Chemical," "Drug," "ClinicalTrials," "SNP," and relationships between entity-entity were obtained through curation. Our semantic modeling for ethnicity-specific SNPs showed interesting results in the three categories, including three diseases ("AIDS-associated nephropathy," "Hypertension," and "Pelvic infection"), one drug ("Methylphenidate"), and five pathways ("Hemostasis," "Systemic lupus erythematosus," "Prostate cancer," "Hepatitis C virus," and "Rheumatoid arthritis"). We found ethnicity-specific genes using the semantic modeling, and the majority of our findings was consistent with the previous studies - that an understanding of genetic variability explained ethnicity-specific disparities. Korea Genome Organization 2014-03 2014-03-31 /pmc/articles/PMC3990764/ /pubmed/24748859 http://dx.doi.org/10.5808/GI.2014.12.1.35 Text en Copyright © 2014 by the Korea Genome Organization http://creativecommons.org/licenses/by-nc/3.0/ It is identical to the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/).
spellingShingle Original Article
Kim, HyoYoung
Yoo, Won Gi
Park, Junhyung
Kim, Heebal
Kang, Byeong-Chul
Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples
title Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples
title_full Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples
title_fullStr Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples
title_full_unstemmed Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples
title_short Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples
title_sort semantic modeling for snps associated with ethnic disparities in hapmap samples
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990764/
https://www.ncbi.nlm.nih.gov/pubmed/24748859
http://dx.doi.org/10.5808/GI.2014.12.1.35
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