PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population.

TitlePNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population.
Publication TypeJournal Article
Year of Publication2012
AuthorsLi, Q, Qu, H-Q, Rentfro, AR, Grove, ML, Mirza, S, Lu, Y, Hanis, CL, Fallon, MB, Boerwinkle, E, Fisher-Hoch, SP, McCormick, JB
JournalClin Invest Med
Date Published2012 Aug 04
KeywordsAdult, Age Factors, Alanine Transaminase, Aspartate Aminotransferases, Female, Genotype, Humans, Lipase, Liver, Liver Diseases, Male, Membrane Proteins, Metabolic Syndrome, Mexican Americans, Middle Aged, Polymorphism, Single Nucleotide, Sex Characteristics

PURPOSE: This study examined genetic associations of patatin-like phospholipase domain containing 3 gene (PNPLA3) polymorphisms and liver aminotransferases in an extensively documented, randomly recruited Mexican American population at high risk of liver disease.METHODS: Two single nucleotide polymorphisms (SNP) in the PNPLA3 gene (i.e., rs738409 and rs2281135) were genotyped in 1532 individuals. Population stratification was corrected by the genotyping of 103 ancestry informative markers (AIMs) for Mexican Americans.RESULTS: Both PNPLA3 SNPs showed highly significant association with alanine aminotransferase (ALT) levels, but was also, in males, associated with aspartate aminotransferase (AST) levels. Haplotypic association test of the two SNPs suggested stronger genetic association with rs738409 than rs2281135. Obvious sex effects were observed: rs738409-sex interaction in ALT levels P = 8.37 x 10(-4); rs738409-sex interaction in AST levels P = 5.03 x 10(-3).CONCLUSIONS: This population study highlights a sex-specific association of PNPLA3 polymorphisms and elevated liver enzymes in a population-based study, independent of common pathological factors of the metabolic syndrome. The strong genetic association found in women ≤ 50 years old, but not in women > 50 years old, suggests that sex hormones may mediate the sex effect.

Alternate JournalClin Invest Med
PubMed ID22863562
PubMed Central IDPMC3441048
Grant List1U54RR023417-01 / RR / NCRR NIH HHS / United States
P20 MD000170 / MD / NIMHD NIH HHS / United States
KL2 RR024149 / RR / NCRR NIH HHS / United States
UL1 RR024148 / RR / NCRR NIH HHS / United States
R01 DK056804 / DK / NIDDK NIH HHS / United States

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