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PNPLA3 mutation frequent in obese children, all ages with metabolic syndrome

Researchers found a PNPLA3 variation to be associated with increased liver enzymes in obese and overweight children and among all age groups of individuals with metabolic syndrome, according to published study data.

“We investigated the influence of the rs738409 variant of the PNPLA3 gene on young and adult overweight/obese subjects with and without [metabolic syndrome],” the researchers wrote. “[Our] findings contradict other studies in which no correlation between PNPLA3 gene polymorphisms and [metabolic syndrome] has been verified.”

Researchers analyzed data and blood samples from 288 overweight or obese patients enrolled in the Styrian Juvenile Obesity Study/Early Detection of Atherosclerosisis study, “which investigates metabolic/cardiovascular parameters in overweight/obese individuals … free of chronic health conditions, except for [metabolic syndrome],” and were compared with 209 normal-weight participants. All patients were aged between 10 and 65 years and were analyzed for PNPLA3 genotypes.

Overall, overweight and obese patients with metabolic syndrome (MetS) showed a higher presence of the rs738409 G allele compared with overweight and obese patients without MetS, with a Spearman’s rho correlation coefficient of 0.12  (CC genotype 5% vs. 9.2%; P = .038). The patients with CG and GG genotypes had higher alanine aminotransferase levels compared with patients with CC genotypes, showing a Spearman’s rho correlation coefficient of 0.153 (P < .001).

In addition, patients aged younger than 20 years “had significantly increased ALT levels if they were homozygote with the G allele,” according to the researchers.

“The PNPLA3 rs738409 polymorphism is associated already in youths with increased ALT, and is more frequent in obese [patients] with MetS of all ages,” the researchers wrote. “Hence, overweight and obese rs738409 carriers should be identified early in life and treated with a rigorous lifestyle intervention.”

The researchers concluded: “A determination of this polymorphism may help to identify young high risk candidates for fatty liver disease at an early preclinical level.” – by Melinda Stevens

Disclosures: The researchers report no relevant financial disclosures.