Variant "EHBP1L1:c.1613T>G(p.Val538Gly)"
Search result: 1 record
Variant information
Gene:
EHBP1L1 
Variant:
EHBP1L1:c.1613T>G(p.Val538Gly) 
Genomic location:
chr11:65349756(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001099409.1:c.1613T>G(p.Val538Gly)
dbSNP ID:
rs6591182  
GWAS trait:
non-alcoholic fatty liver disease,cirrhosis of liver 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Nonalcoholic Fatty Liver Disease (DOID_0080208)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=8.6×10(-7) 
    Effect:
    Associated with the development NAFLD or disease severity.
    Reference:
    PMID26740948
    Title:
    Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.
    Species studied:
    Human
    Abstract:
    We explored potential genetic risk factors implicated in nonalcoholic fatty liver disease (NAFLD) within a Caribbean-Hispanic population in New York City. A total of 316 individuals including 40 subjects with biopsy-proven NAFLD, 24 ethnically matched non-NAFLD controls, and a 252 ethnically mixed random sampling of Bronx County, New York were analyzed. Genotype analysis was performed to determine allelic frequencies of 74 known single-nucleotide polymorphisms (SNPs) associated with NAFLD risk based on previous genome-wide association study (GWAS) and candidate gene studies. Additionally, the entire coding region of PNPLA3, a gene showing the strongest association to NAFLD was subjected to Sanger sequencing. Results suggest that both rare and common DNA variations in PNPLA3 and SAMM50 may be correlated with NAFLD in this small population study, while common DNA variations in CHUK and ERLIN1, may have a protective interaction. Common SNPs in ENPP1 and ABCC2 have suggestive association with fatty liver, but with less compelling significance. In conclusion, Hispanic patients of Caribbean ancestry may have different interactions with NAFLD genetic modifiers; therefore, further investigation with a larger sample size, into this Caribbean-Hispanic population is warranted.