Literature DB >> 26756786

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

Anna Viitasalo1, Jussi Pihlajamäki2,3, Jussi Paananen1,4, Mustafa Atalay1, Virpi Lindi1, Timo A Lakka1,5,6.   

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.

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Year:  2016        PMID: 26756786     DOI: 10.1038/pr.2016.3

Source DB:  PubMed          Journal:  Pediatr Res        ISSN: 0031-3998            Impact factor:   3.756


  18 in total

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3.  Circulating triacylglycerol signatures and insulin sensitivity in NAFLD associated with the E167K variant in TM6SF2.

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Review 4.  Nonalcoholic fatty liver disease: a challenge for pediatricians.

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9.  Genetic variation in transmembrane 6 superfamily member 2 and the risk of nonalcoholic fatty liver disease and histological disease severity.

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10.  Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

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  5 in total

1.  Association of MBOAT7 gene variant with plasma ALT levels in children: the PANIC study.

Authors:  Anna Viitasalo; Aino-Maija Eloranta; Mustafa Atalay; Stefano Romeo; Jussi Pihlajamäki; Timo A Lakka
Journal:  Pediatr Res       Date:  2016-07-13       Impact factor: 3.756

2.  Meta-analysis of the influence of TM6SF2 E167K variant on Plasma Concentration of Aminotransferases across different Populations and Diverse Liver Phenotypes.

Authors:  Silvia Sookoian; Carlos J Pirola
Journal:  Sci Rep       Date:  2016-06-09       Impact factor: 4.379

Review 3.  PNPLA3-A Potential Therapeutic Target for Personalized Treatment of Chronic Liver Disease.

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Review 4.  New Perspectives on Genetic Prediction for Pediatric Metabolic Associated Fatty Liver Disease.

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Journal:  Front Pediatr       Date:  2020-12-09       Impact factor: 3.418

Review 5.  The Genetics of Clinical Liver Diseases: Insight into the TM6SF2 E167K Variant.

Authors:  Xiaoyu Zhang; Shousheng Liu; Quanjiang Dong; Yongning Xin; Shiying Xuan
Journal:  J Clin Transl Hepatol       Date:  2018-09-07
  5 in total

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