The common adiponutrin variant p.I148M, a genetic risk factor for non-alcoholic fatty liver disease, affects fasting glucose and triglyceride levels

2011 ◽  
Vol 49 (01) ◽  
Author(s):  
M Krawczyk ◽  
F Grünhage ◽  
M Mahler ◽  
S Tirziu ◽  
M Acalovschi ◽  
...  
2014 ◽  
Vol 23 (1) ◽  
pp. 33-37 ◽  
Author(s):  
Agnieszka Kempinska-Podhorodecka ◽  
Marcin Krawczyk ◽  
Marta Klak ◽  
Malgorzata Blatkiewicz ◽  
Frank Lammert ◽  
...  

Introduction: The common PNPLA3 (adiponutrin) variant p.I148M represents a major genetic driver of progression in non-alcoholic fatty liver disease (NAFLD). NAFLD is commonly associated with traits of the metabolic syndrome, therefore it is mostly suspected in obese individuals. Here, we investigate the association between the PNPLA3 variant and anthropometric traits in a cohort of healthy individuals.Patients and methods: We recruited 1,000 (500 females; age 18 - 66 years) healthy blood donors. The PNPLA3 variant was genotyped using TaqMan assays. All individuals were phenotyped with respect to anthropometric characteristics. We also determined the percentage of total fat (F%) and active tissue (TA%) of body weight.Results: Healthy carriers of the PNPLA3 [IM] and [MM] genotypes, although not differing in height from individuals with the genotype [II], displayed significantly lower body weight and lower BMI (both P = 0.005), higher TA% (P = 0.03) but lower F% (P = 0.03) and smaller waist, chest and shin circumferences (all P < 0.05). Separate analysis for males and females demonstrated an association between the [IM] and [MM] genotypes and higher TA% but lower F% (P = 0.04) in females. In males, BMI and total weight were significantly (P = 0.04) lower among carriers of the [M] allele.Discussion: Healthy individuals carrying the prosteatotic PNPLA3 allele p.I48M may be leaner as compared to the carriers of the common allele. Hence in clinical practice they might be overlooked since they do not necessarily present with the anthropometric characteristics commonly associated with severe hepatic steatosis.Abbreviations: ATX - autotaxin; BMI - body mass index; F% - total fat of body weight in %; Fkg - total fat of body weight in kilograms; GWAS - genome-wide association study; LPA - lysophosphatidic acid; NAFLD, non-alcoholic fatty liver disease; NASH - non-alcoholic steatohepatitis; PA - phosphatidic acid; PNPLA3-patatin-like phospholipase domain containing 3 (adiponutrin); TA% - active tissue of body weight in %; TAkg - active tissue of body weight in kilograms; WHR - waist-to-hip ratio.


Biology ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 122
Author(s):  
Jun-Hyuk Lee ◽  
Hye-Sun Lee ◽  
Byoung-Kwon Lee ◽  
Yu-Jin Kwon ◽  
Ji-Won Lee

Although sarcopenia is known to be a risk factor for non-alcoholic fatty liver disease (NAFLD), whether NAFLD is a risk factor for the development of sarcopenia is not clear. We investigated relationships between NAFLD and low skeletal muscle mass index (LSMI) using three different datasets. Participants were classified into LSMI and normal groups. LSMI was defined as a body mass index (BMI)-adjusted appendicular skeletal muscle mass <0.789 in men and <0.512 in women or as the sex-specific lowest quintile of BMI-adjusted total skeletal muscle mass. NAFLD was determined according to NAFLD liver fat score or abdominal ultrasonography. The NAFLD groups showed a higher hazard ratios (HRs) with 95% confidence intervals (CIs) for LSMI than the normal groups (HRs = 1.21, 95% CIs = 1.05–1.40). The LSMI groups also showed a higher HRs with 95% CIs for NAFLD than normal groups (HRs = 1.56, 95% CIs = 1.38–1.78). Participants with NAFLD had consistently less skeletal muscle mass over 12 years of follow-up. In conclusion, LSMI and NAFLD showed a relationship. Maintaining muscle mass should be emphasized in the management of NAFLD.


Antioxidants ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 270
Author(s):  
Luca Rinaldi ◽  
Pia Clara Pafundi ◽  
Raffaele Galiero ◽  
Alfredo Caturano ◽  
Maria Vittoria Morone ◽  
...  

Non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome (MS) are two different entities sharing common clinical and physio-pathological features, with insulin resistance (IR) as the most relevant. Large evidence leads to consider it as a risk factor for cardiovascular disease, regardless of age, sex, smoking habit, cholesterolemia, and other elements of MS. Therapeutic strategies remain still unclear, but lifestyle modifications (diet, physical exercise, and weight loss) determine an improvement in IR, MS, and both clinical and histologic liver picture. NAFLD and IR are bidirectionally correlated and, consequently, the development of pre-diabetes and diabetes is the most direct consequence at the extrahepatic level. In turn, type 2 diabetes is a well-known risk factor for multiorgan damage, including an involvement of cardiovascular system, kidney and peripheral nervous system. The increased MS incidence worldwide, above all due to changes in diet and lifestyle, is associated with an equally significant increase in NAFLD, with a subsequent rise in both morbidity and mortality due to both metabolic, hepatic and cardiovascular diseases. Therefore, the slowdown in the increase of the “bad company” constituted by MS and NAFLD, with all the consequent direct and indirect costs, represents one of the main challenges for the National Health Systems.


PLoS ONE ◽  
2017 ◽  
Vol 12 (8) ◽  
pp. e0182708 ◽  
Author(s):  
Jae Yeon Lee ◽  
Dong Wook Shin ◽  
Jeong Won Oh ◽  
Won Kim ◽  
Sae Kyung Joo ◽  
...  

Author(s):  
Doaa Ameen Khalil ◽  
Yasser Mohammed Abdul Raouf ◽  
Amal Said Al-Bendary ◽  
Kamal Mohamed Okasha

Background: Non-alcoholic fatty liver disease (NAFLD) can increase the incidence of cardiovascular disease and hepatocellular carcinoma. Thyroid hormones also play important roles in hepatic lipid metabolism and hepatic insulin resistance. Hypothyroidism is associated with reduced lipolysis and decreased liver uptake of free fatty acids derived from triglycerides. In recent years, the correlation between overt or subclinical hypothyroidism and NAFLD has been discussed. The relationship between NAFLD and thyroid function parameters remains unclear. Aim: We aimed to evaluate the relationship between serum level of Thyroid Stimulating Hormone (TSH) within normal reference range and Non Alcoholic fatty liver Disease (NAFLD). Subjects and Methods: This is a cross sectional case control study on 40 patients with NAFLD and a control group of 20 healthy individuals, who were attendants of Outpatient Clinic of Internal Medicine Department of Tanta University Hospitals and EL-Menshawy General Hospital from February 2018 to the end of January 2019. Results: In the present study, univariate regression analysis showed that serum levels of AST, FT3, FT4 and Anti-TPO were independent risk factors of NAFLD, while in multivariate analysis the only independent risk factor of NAFLD was Anti-TPO serum level. Conclusion: Serum levels of AST, FT3, FT4 and Anti-TPO were independent risk factors of NAFLD in univariate regression analysis, while in multivariate analysis the only independent risk factor of NAFLD was Anti-TPO serum level. Despite the positive correlation between serum TSH level and grade of NAFLD, the study didn’t show serum TSH level as independent risk factor of NAFLD.


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