RGD Reference Report - Associations among Genetic Variants and Intracranial Aneurysm in a Chinese Population. - Rat Genome Database

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Associations among Genetic Variants and Intracranial Aneurysm in a Chinese Population.

Authors: Li, Bingyang  Hu, Chongyu  Liu, Junyu  Liao, Xin  Xun, Jiayu  Xiao, Manqian  Yan, Junxia 
Citation: Li B, etal., Yonsei Med J. 2019 Jul;60(7):651-658. doi: 10.3349/ymj.2019.60.7.651.
RGD ID: 329955568
Pubmed: PMID:31250579   (View Abstract at PubMed)
PMCID: PMC6597466   (View Article at PubMed Central)
DOI: DOI:10.3349/ymj.2019.60.7.651   (Journal Full-text)


PURPOSE: Genome-wide association studies (GWAS) have revealed that common variants on or near EDNRA, HDAC9, SOX17, RP1, CDKN2B-AS1, and RBBP8 genes are associated with intracranial aneurysm (IA) in European or Japanese populations. However, due to population heterogeneity, whether these loci are associated with IA pathogenesis in Chinese individuals is still unknown. The purpose of this study was to investigate associations among GWAS-identified loci and risk of IA in a Chinese population.
MATERIALS AND METHODS: A total of 765 individuals (including 230 IA patients and 535 controls) were involved in this study. Twelve single nucleotide polymorphisms (SNPs) of candidate loci were genotyped using the Sequenom MassARRAY platform. Associations were analyzed using univariate or multivariate logistic regression analysis.
RESULTS: SNPs in CDKN2B-AS1 (especially rs10757272) showed significant associations with IA in dominant and additive models [odds ratio (OR), 2.99 and 1.43; 95% confidence interval (CI), 1.44-6.24 and 1.10-1.86, respectively]. A SNP near HDAC9 (rs10230207) was associated with IA in the dominant model (OR, 1.42; 95% CI, 1.01-1.99). One SNP near RP1 (rs1072737) showed a protective effect on IA in the dominant model (OR, 0.66; 95% CI, 0.46-0.95), while another SNP in RP1 (rs9298506) showed a risk effect on IA in a recessive model (OR, 3.82; 95% CI, 1.84-7.91). No associations were observed among common variants near EDNRA, SOX17, or RBBP8 and IA.
CONCLUSION: These data partially confirmed earlier results and showed that variants in CDKN2B-AS1, RP1, and HDAC9 could be genetic susceptibility factors for IA in a Chinese population.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SOX17Humanintracranial aneurysm no_associationIAGP DNA:SNP:enhancer: (rs10958409) (human)RGD 
Sox17Ratintracranial aneurysm no_associationISOSOX17 (Homo sapiens)DNA:SNP:enhancer: (rs10958409) (human)RGD 
Sox17Mouseintracranial aneurysm no_associationISOSOX17 (Homo sapiens)DNA:SNP:enhancer: (rs10958409) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SOX17HumanDilatation of the cerebral artery no_associationIAGP DNA:SNP:enhancer: (rs10958409)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Sox17  (SRY-box transcription factor 17)

Genes (Mus musculus)
Sox17  (SRY (sex determining region Y)-box 17)

Genes (Homo sapiens)
SOX17  (SRY-box transcription factor 17)


Additional Information