TY - JOUR
T1 - Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects
AU - Oussalah, Abderrahim
AU - Bosco, Paolo
AU - Anello, Guido
AU - Spada, Rosario
AU - Guéant-Rodriguez, Rosa Maria
AU - Chery, Céline
AU - Rouyer, Pierre
AU - Josse, Thomas
AU - Romano, Antonino
AU - Elia, Maurizzio
AU - Bronowicki, Jean Pierre
AU - Guéant, Jean Louis
PY - 2015/6/7
Y1 - 2015/6/7
N2 - 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
AB - 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
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U2 - 10.1097/MD.0000000000000925
DO - 10.1097/MD.0000000000000925
M3 - Article
AN - SCOPUS:84941006606
SN - 0025-7974
VL - 94
SP - e925
JO - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
JF - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
IS - 22
ER -