PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population

Luan Li, Hui Qi Qu, Anne R. Rentfro, Megan L. Grove, Shaper Mirza, Yang Lu, Craig L. Hanis, Michael B. Fallon, Eric Boerwinkle, Susan P. Fisher-Hoch, Joseph B. McCormick

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


Purpose: is 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=8.37x10-4; rs738409-sex interaction in AST levels P=5.03x10-3. Conclusions: is population study highlights a sex-speciffc association of PNPLA3 polymorphisms and elevated liver enzymes in a population-based study, independent of common pathological factors of the metabolic syndrome. e 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.

Original languageEnglish (US)
Pages (from-to)E237-E245
JournalClinical and Investigative Medicine
Issue number4
StatePublished - 2012

ASJC Scopus subject areas

  • General Medicine


Dive into the research topics of 'PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population'. Together they form a unique fingerprint.

Cite this