Associations of TM6SF2 167K allele with liver enzymes and lipid profile in children: the PANIC Study

Pediatr Res. 2016 May;79(5):684-8. doi: 10.1038/pr.2016.3. Epub 2016 Jan 12.

Abstract

Background: The 167K allele in the TM6SF2 gene has been suggested to protect against cardiovascular disease at the cost of developing nonalcoholic fatty liver disease in adults.

Methods: We performed a cross-sectional study in a population sample of 462 Caucasian children aged 6-9 y, genotyped the polymorphism using HumanCoreExome BeadChip, and assessed several cardiometabolic risk factors.

Results: The 51 (11%) carriers of the 167K allele had higher plasma alanine aminotransferase (ALT) (20.8 vs. 18.4 U/l, P = 0.011) but lower plasma triglycerides (0.54 vs. 0.61 mmol/l, P = 0.024), total cholesterol (4.08 vs. 4.30 mmol/l, P = 0.016), and low-density lipoprotein (LDL) cholesterol (2.22 vs. 2.38 mmol/l, P = 0.012) than the 411 noncarriers. In factor analysis, the first factor was heavily loaded by plasma ALT (factor loading 0.63), triglycerides (-0.82), LDL cholesterol (-0.71), and waist circumference (0.61) in the carriers but not in the noncarriers.

Conclusions: The carriers of the 167K allele have higher plasma ALT but lower plasma triglycerides and total and LDL cholesterol than the noncarriers already in childhood.

MeSH terms

  • Alanine Transaminase / blood*
  • Alleles
  • Cardiovascular Diseases / genetics
  • Cardiovascular Diseases / prevention & control
  • Child
  • Cholesterol, LDL / blood
  • Cross-Sectional Studies
  • Exercise
  • Female
  • Genotype
  • Heterozygote*
  • Humans
  • Lipids / blood*
  • Liver / enzymology*
  • Male
  • Membrane Proteins / genetics*
  • Non-alcoholic Fatty Liver Disease / genetics
  • Non-alcoholic Fatty Liver Disease / prevention & control
  • Risk Factors
  • Sedentary Behavior
  • Triglycerides / blood
  • Waist Circumference

Substances

  • Cholesterol, LDL
  • Lipids
  • Membrane Proteins
  • TM6SF2 protein, human
  • Triglycerides
  • Alanine Transaminase