PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population.
PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population.
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DOI：
10.25011/cim.v35i4.17153
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发表时间：
2012-08-04
期刊：
影响因子：
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通讯作者：
McCormick JB
中科院分区：
文献类型：
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作者：
Li Q;Qu HQ;Rentfro AR;Grove ML;Mirza S;Lu Y;Hanis CL;Fallon MB;Boerwinkle E;Fisher-Hoch SP;McCormick JB
This study examined genetic associations of PNPLA3 polymorphisms and liver aminotransferases in an extensively documented, randomly recruited Mexican American population at high risk of liver disease. 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. 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 characterized: rs738409-sex interaction in ALT levels had P=8.37×10−4; rs738409-sex interaction in AST levels had P=5.03×10−3. 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.
