ArticleBMC medical genetics2015
MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- LPL gene Pvu II polymorphism and hypertriglyceridemia: a meta-analysis involving 1,640 subjects.The Korean journal of internal medicine · 2017Pooled it
- Hypocholesterolemia in liver and cardiovascular disease: Friend or foe?Journal of internal medicine · 2026Review
- Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants.Orphanet journal of rare diseases · 2025Article
- Editorial: MTTP, hepatic steatosis and plasma lipids - still more questions than answers.Alimentary pharmacology & therapeutics · 2023Article
- Insulin Regulation of Hepatic Lipid Homeostasis.Comprehensive Physiology · 2023Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- New insights into the inter-organ crosstalk mediated by ChREBP.Frontiers in endocrinology · 2023Review
- Signatures of Convergent Evolution and Natural Selection at the Alcohol Dehydrogenase Gene Region are Correlated with Agriculture in Ethnically Diverse Africans.Molecular biology and evolution · 2022Article
- Activation of Liver mTORC1 Protects Against NASH via Dual Regulation of VLDL-TAG Secretion and De Novo Lipogenesis.Cellular and molecular gastroenterology and hepatology · 2022Article
- Article
- Review
- New Perspectives on Genetic Prediction for Pediatric Metabolic Associated Fatty Liver Disease.Frontiers in pediatrics · 2020Review
- The association of lipid metabolism and non-alcoholic fatty liver disease in children with obesity.Turk pediatri arsivi · 2020Article
- GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.Molecular nutrition & food research · 2019Review
- Pathogenesis of non-alcoholic fatty liver disease in children and adolescence: From "two hit theory" to "multiple hit model".World journal of gastroenterology · 2018Review
- The Association between Pediatric NAFLD and Common Genetic Variants.Children (Basel, Switzerland) · 2017Review
- Genetic variation in the microsomal triglyceride transfer protein (-493G/T) is associated with hepatic steatosis in patients infected with hepatitis C virus.BMC infectious diseases · 2017Article
- Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMicrosomal triglyceride transfer protein (MTP) works to lipidate and assemble the apoB-containing lipoproteins in liver. It closely links up the hepatic secretion of lipid to regulate serum lipid and atherosclerosis. Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarkable hepatic steatosis or cirrhosis. Several MTTP polymorphisms have been reported relating to metabolic syndrome, hyperlipidemia and steatohepatitis. We supposed the regulation of serum lipids and risk of non-alcoholic fatty liver disease (NAFLD) formation may be modified by individual susceptibility related to the MTTP polymorphisms. METHODS AND
resultsA cross-sectional population of 1193 subjects, 1087 males and 106 females mean aged 45.9 ± 8.9 years, were enrolled without recognized secondary hyperlipidemia. Fasting serum lipid, insulin, and non-esterified fatty acid were assessed and transformed to insulin resistance index, HOMA-IR and Adipo-IR. After ruling out alcohol abuser, non-alcoholic fatty liver disease (NAFLD) was diagnosed by abdominal ultrasound. Five common MTTP polymorphisms (promoter -493 G/T, E98D, I128T, N166S, and Q297H) were conducted by TaqMan assay. Multivariate regression analysis was used to estimate their impact on serum lipid and NAFLD risk. Assessment revealed a differential impact on LDL-C and non-HDL-C, which were sequentially determined by the Q297H polymorphism, insulin resistance, body mass index and age. Carriers of homozygous minor allele (297 H) had significantly lower LDL-C and non-HDL-C but higher risk for NAFLD. Molecular modeling of the 297 H variant demonstrated higher free energy, potentially referring to an unstable structure and functional sequence.
conclusionThese results evidenced the MTTP polymorphisms could modulate the lipid homeostasis to determine the serum lipids and risk of NAFLD. The MTTP 297 H polymorphism interacted with age, insulin resistance and BMI to decrease serum apoB containing lipoproteins (LDL-C and non-HDL-C) but increase the risk of NAFLD formation.
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