Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects

Abderrahim Oussalah, Paolo Bosco, Guido Anello, Rosario Spada, Rosa Maria Guéant-Rodriguez, Céline Chery, Pierre Rouyer, Thomas Josse, Antonino Romano, Maurizzio Elia, Jean Pierre Bronowicki, Jean Louis Guéant

Research output: Contribution to journalArticle

Abstract

Genome-wide association studies (GWASs) have identified loci contributing to total serum bilirubin level. However, no exome-wide approaches have been performed to address this question. Using exome-wide approach, we assessed the influence of protein-coding variants on unconjugated, conjugated, and total serum bilirubin levels in a well-characterized cohort of 773 ambulatory elderly subjects from Italy. Coding variants were replicated in 227 elderly subjects from the same area. We identified 4 missense rare (minor allele frequency, MAF

Original languageEnglish
Pages (from-to)e925
JournalMedicine (United States)
Volume94
Issue number22
DOIs
Publication statusPublished - Jun 7 2015

ASJC Scopus subject areas

  • Medicine(all)

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