title: Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.
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.
authors.affiliation: Department of Genetics Albert Einstein College of Medicine 1301 Morris Park Ave. Bronx New York 10461.
authors.forename: Deborah
authors.initials: D
authors.lastname: Edelman
authors.affiliation: Division of Gastroenterology and Liver Diseases Montefiore Medical Center and Albert Einstein College of Medicine Bronx New York 10461.
authors.forename: Harmit
authors.initials: H
authors.lastname: Kalia
authors.affiliation: Department of GeneticsAlbert Einstein College of Medicine1301 Morris Park Ave.BronxNew York10461; Marion Bessin Liver Research CenterAlbert Einstein College of MedicineBronxNew York10461.
authors.forename: Maria
authors.initials: M
authors.lastname: Delio
authors.affiliation: Division of Gastroenterology and Liver Diseases Montefiore Medical Center and Albert Einstein College of Medicine Bronx New York 10461.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Alani
authors.affiliation: Division of Gastroenterology and Liver Diseases Montefiore Medical Center and Albert Einstein College of Medicine Bronx New York 10461.
authors.forename: Karthik
authors.initials: K
authors.lastname: Krishnamurthy
authors.affiliation: Division of Gastroenterology and Liver Diseases Montefiore Medical Center and Albert Einstein College of Medicine Bronx New York 10461.
authors.forename: Mortadha
authors.initials: M
authors.lastname: Abd
authors.affiliation: Department of Genetics Albert Einstein College of Medicine 1301 Morris Park Ave. Bronx New York 10461.
authors.forename: Adam
authors.initials: A
authors.lastname: Auton
authors.affiliation: Department of Epidemiology & Population Health Albert Einstein College of Medicine Bronx New York 10461.
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.affiliation: Division of Gastroenterology and Liver DiseasesMontefiore Medical Center and Albert Einstein College of MedicineBronxNew York10461; Marion Bessin Liver Research CenterAlbert Einstein College of MedicineBronxNew York10461; Department of Anatomy and Structural BiologyAlbert Einstein College of MedicineBronxNew York10461.
authors.forename: Allan W
authors.initials: AW
authors.lastname: Wolkoff
authors.affiliation: Department of GeneticsAlbert Einstein College of Medicine1301 Morris Park Ave.BronxNew York10461; Department of Anatomy and Structural BiologyAlbert Einstein College of MedicineBronxNew York10461.
authors.forename: Bernice E
authors.initials: BE
authors.lastname: Morrow
keywords: ABCC2; CHUK; ENPP1; ERLIN1; NAFLD; NASH; PNPLA3; SAMM50.; fatty Liver; gene; hispanic population; liver genetics; nonalcoholic fatty liver disease; nonalcoholic steatohepatitis; polymorphism