Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples.
- Author:
Hyoyoung KIM
1
;
Won Gi YOO
;
Junhyung PARK
;
Heebal KIM
;
Byeong Chul KANG
Author Information
- Publication Type:Original Article
- Keywords: ethnic groups; HapMap Project; modeling; semantic; single nucleotide polymorphism
- MeSH: Asian Continental Ancestry Group; Ethnic Groups; HapMap Project*; Humans; Phenotype; Polymorphism, Single Nucleotide*; Semantics*
- From:Genomics & Informatics 2014;12(1):35-41
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
