Why the study?
Does the TM6SF2-rs58542926 variant affect the risk of cardiovascular disease and nonalcoholic fatty liver disease?
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.
Answers are grounded in this paper and cite their sources.
TM6SF2 pleiotropy challenges personalized lipid management; leaves open balanced genetic risk assessment for CVD versus NAFLD.
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.
No takes yet. Share an insight, caveat, or question.
Pirola et al. (2015) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: