Hispanics more likely than African-Americans or Caucasians to carry this PNPLA3 gene variant, says study in Nature Genetics.

Researchers have found that individuals who carry a particular type of the gene Patatin-like phospholipase domain containing 3 (PNPLA3) have more fat in their livers and carry a greater risk of developing liver disease.


The investigators also noted that Hispanics in comparison to Caucasians and African-Americans are more likely to have this gene variation responsible for higher liver-fat content. The team suggests that these findings provide an explanation for a 2004 University of Texas Southwestern-led study that determined that the propensity to develop nonalcoholic fatty liver disease (NAFLD) differs among ethnic groups.


The researchers report that they are the first to analyze hepatic fat in a large population using a proton magnetic resonance spectroscopy. They screened more than 2,100 individuals across multiple ethnicities. They then correlated that data with DNA tests from the same people and found the link to the PNPLA3 gene.


The findings come out of the Dallas Heart Study, an eight-year-old investigation of cardiovascular disease that involves a large multiethnic group of participants. The $12 million study investigates the links between genetics, lifestyle, and the risks for heart disease. The next step is to investigate how the various forms of the PNPLA3 gene affect lipid metabolism, the scientists say.


Researchers from UT Southwestern Medical Center, Perlegen Sciences, Lawrence Berkeley National Laboratory, and the UT Health Science Center at Houston were involved in the study. The article can be found online in Nature Genetics.

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