Does the TM6SF2-rs58542926 variant affect the risk of cardiovascular disease and nonalcoholic fatty liver disease?
The TM6SF2-rs58542926 variant exhibits a dual and opposite role, protecting against cardiovascular disease while increasing the risk for nonalcoholic fatty liver disease.
The rs58542926 appears to be an important modifier of blood lipid traits in different populations. As a challenge for personalized medicine, the C-allele, which has an overall frequency as high as 93%, is associated with higher blood lipids, whereas the T allele confers risk for NAFLD; in turn, CVD and NAFLD are strongly related outcomes. Although the variant confers protection against CVD at the expense of an increased risk of NAFLD, it does not explain the link between these two complex diseases.
Pirola et al. (Wed,) studied this question.