Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in Caucasians
F Stickel, S Buch, K Lau, HM zu Schwabedissen, T Berg, M Ridinger, S Wiegandt, M Rietschel, C Schafmayer, F Braun, H Hinrichsen, R Günther, A Arlt, M Seeger, S Müller, HK Seitz, M Soyka, M Lerch, F Lammert, C Sarrazin, S Zeuzem, R Kubitz, D Häussinger, C Hell… · Zeitschrift für Gastroenterologie · 2010 · Heft 08
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Zusammenfassung
Background and Aims: A recent genome-wide study revealed an association between variation in the PNPLA3 gene and liver fat content. In addition, PNPLA3 single nucleotide polymorphism (SNP) rs738409 (M148I) was reported to be associated with advanced alcoholic liver disease in alcohol-dependent individuals of Mestizo descent. We therefore evaluated the impact of rs738409 on the manifestation of alcoholic liver disease in two independent German cohorts. Methods: Genotype and allele frequencies of PNPLA3 SNP rs738409 (M148I) were determined in 1043 clinical alcoholics with or without alcoholic liver injury and in 3…