Title | PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population. |
Publication Type | Journal Article |
Year of Publication | 2012 |
Authors | Li, Q, Qu, H-Q, Rentfro, AR, Grove, ML, Mirza, S, Lu, Y, Hanis, CL, Fallon, MB, Boerwinkle, E, Fisher-Hoch, SP, McCormick, JB |
Journal | Clin Invest Med |
Volume | 35 |
Issue | 4 |
Pagination | E237-45 |
Date Published | 2012 Aug 04 |
ISSN | 1488-2353 |
Keywords | Adult, 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 |
Abstract | 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. |
DOI | 10.25011/cim.v35i4.17153 |
Alternate Journal | Clin Invest Med |
PubMed ID | 22863562 |
PubMed Central ID | PMC3441048 |
Grant List | 1U54RR023417-01 / 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 |
PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population.
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