DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Liver disease severity in Alagille syndrome. The EFO term Alagille syndrome, liver disease was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: Alagille syndrome, liver disease

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

EA Tsai, MA Gilbert, CM Grochowski, LA Underkoffler, H Meng, X Zhang, MM Wang, H Shitaye, KD Hankenson, D Piccoli, H Lin, BM Kamath, M Devoto, NB Spinner, KM Loomes

TITLE:

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.

JOURNAL:

Cellular and molecular gastroenterology and hepatology Sep 2016, Vol 2, pp. 663-675.e2

ABSTRACT:

Alagille syndrome is an autosomal-dominant, multisystem disorder caused primarily by mutations in JAG1, resulting in bile duct paucity, cholestasis, cardiac disease, and other features. Liver disease severity in Alagille syndrome is highly variable, however, factors influencing the hepatic phenotype are unknown. We hypothesized that genetic modifiers may contribute to the variable expressivity of this disorder. PUBMED: 28090565
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