scholarly journals Copy number variation in exportin-4 (XPO4) gene and its association with histological severity of non-alcoholic fatty liver disease

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Shamsul Mohd Zain ◽  
Zahurin Mohamed ◽  
Munir Pirmohamed ◽  
Hwa Li Tan ◽  
Mohammed Abdullah Alshawsh ◽  
...  
Keyword(s):  
Liver Disease ◽  
Copy Number Variation ◽  
Fatty Liver ◽  
Copy Number ◽  
Fatty Liver Disease ◽  
Alcoholic Fatty Liver ◽  
Number Variation ◽  
Alcoholic Fatty Liver Disease

scholarly journals Identifying potential biomarkers of nonalcoholic fatty liver disease via genome-wide analysis of copy number variation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yang fan Li ◽  
Jing Zheng ◽  
He wei Peng ◽  
Xiao lin Cai ◽  
Xin ting Pan ◽  
...  
Keyword(s):  
Liver Disease ◽  
Copy Number Variation ◽  
Fatty Liver ◽  
Quantitative Pcr ◽  
Copy Number ◽  
Fatty Liver Disease ◽  
Alcoholic Fatty Liver ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
Number Variation

Abstract Background The prevalence of Non-alcoholic fatty liver disease (NAFLD) is increasing and emerging as a global health burden. In addition to environmental factors, numerous studies have shown that genetic factors play an important role in the development of NAFLD. Copy number variation (CNV) as a genetic variation plays an important role in the evaluation of disease susceptibility and genetic differences. The aim of the present study was to assess the contribution of CNV to the evaluation of NAFLD in a Chinese population. Methods Genome-wide analysis of CNV was performed using high-density comparative genomic hybridisation microarrays (ACGH). To validate the CNV regions, TaqMan real-time quantitative PCR (qPCR) was utilized. Results A total of 441 CNVs were identified, including 381 autosomal CNVs and 60 sex chromosome CNVs. By merging overlapping CNVs, a genomic CNV map of NAFLD patients was constructed. A total of 338 autosomal CNVRs were identified, including 275 CNVRs with consistent trends (197 losses and 78 gains) and 63 CNVRs with inconsistent trends. The length of the 338 CNVRs ranged from 5.7 kb to 2.23 Mb, with an average size of 117.44 kb. These CNVRs spanned 39.70 Mb of the genome and accounted for ~ 1.32% of the genome sequence. Through Gene Ontology and genetic pathway analysis, we found evidence that CNVs involving nine genes may be associated with the pathogenesis of NAFLD progression. One of the genes (NLRP4 gene) was selected and verified by quantitative PCR (qPCR) method with large sample size. We found the copy number deletion of NLRP4 was related to the risk of NAFLD. Conclusions This study indicate the copy number variation is associated with NAFLD. The copy number deletion of NLRP4 was related to the risk of NAFLD. These results could prove valuable for predicting patients at risk of developing NAFLD.

scholarly journals Copy number variation and expression of exportin-4 associates with severity of fibrosis in metabolic associated fatty liver disease

EBioMedicine ◽  
2021 ◽  
Vol 70 ◽  
pp. 103521
Author(s):  
Mayada Metwally ◽  
Ali Bayoumi ◽  
Anis Khan ◽  
Leon A. Adams ◽  
Rocio Aller ◽  
...  
Keyword(s):  
Liver Disease ◽  
Copy Number Variation ◽  
Fatty Liver ◽  
Copy Number ◽  
Fatty Liver Disease ◽  
Number Variation

scholarly journals Peripheral blood mitochondrial DNA copy number, a potential marker of non‐alcoholic fatty liver disease?

2018 ◽  
Vol 32 (S1) ◽  
Author(s):  
Maria Azucena Pescador Tapia ◽  
Nicolas Fragoso‐Bargas ◽  
Dalia Rodríguez‐Ríos ◽  
María Luisa Lazo‐de‐la‐Vega‐Monroy ◽  
Lorena Rocío Ibarra‐Reynoso ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Liver Disease ◽  
Fatty Liver ◽  
Peripheral Blood ◽  
Copy Number ◽  
Fatty Liver Disease ◽  
Alcoholic Fatty Liver ◽  
Mitochondrial Dna Copy Number ◽  
Potential Marker ◽  
Alcoholic Fatty Liver Disease

Vitamin D levels are not associated with non-alcoholic fatty liver disease severity in a Brazilian population

2020 ◽  
pp. 1-8
Author(s):  
Jeniffer Danielle M. Dutra ◽  
Quelson Coelho Lisboa ◽  
Silvia Marinho Ferolla ◽  
Carolina Martinelli M. L. Carvalho ◽  
Camila Costa M. Mendes ◽  
...  
Keyword(s):  
Vitamin D ◽  
Liver Disease ◽  
Fatty Liver ◽  
Disease Severity ◽  
Fatty Liver Disease ◽  
Hypovitaminosis D ◽  
Alcoholic Fatty Liver ◽  
Vitamin D Levels ◽  
The Mean ◽  
Alcoholic Fatty Liver Disease

Abstract. Some epidemiological evidence suggests an inverse correlation between non-alcoholic fatty liver disease (NAFLD) frequency and vitamin D levels. Likewise, a beneficial effect of vitamin D on diabetes mellitus (DM) and insulin resistance has been observed, but this is an unsolved issue. Thus, we aimed to investigate the prevalence of hypovitaminosis D in a NAFLD Brazilian population and its association with disease severity and presence of comorbidities. In a cross-sectional study, the clinical, biochemical and histological parameters of 139 NAFLD patients were evaluated according to two different cut-off points of serum 25-hydroxyvitamin D levels (20 ng/mL and 30 ng/mL). The mean age of the population was 56 ± 16 years, most patients were female (83%), 72% had hypertension, 88% dyslipidemia, 46% DM, 98% central obesity, and 82% metabolic syndrome. Serum vitamin D levels were < 30 ng/mL in 78% of the patients, and < 20 ng/mL in 35%. The mean vitamin D level was 24.3 ± 6.8 ng/mL. The comparison between the clinical, biochemical and histological characteristics of the patients according to the levels of vitamin D showed no significant difference. Most patients with NAFLD had hypovitaminosis D, but low vitamin D levels were not related to disease severity and the presence of comorbidities.

Non-Alcoholic Fatty Liver Disease in Overweight Children and its Relationship with Retinol Serum Levels

2008 ◽  
Vol 78 (1) ◽  
pp. 27-32 ◽  
Author(s):  
Suano de Souza ◽  
Silverio Amancio ◽  
Saccardo Sarni ◽  
Sacchi Pitta ◽  
Fernandes ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Liver Disease ◽  
Fatty Liver ◽  
Lipid Profile ◽  
Fatty Liver Disease ◽  
Thiobarbituric Acid ◽  
Serum Levels ◽  
Control Group ◽  
Alcoholic Fatty Liver ◽  
Alcoholic Fatty Liver Disease

Objectives: To evaluate the frequency of non-alcoholic fatty liver disease, the retinol serum levels, lipid profile, and insulin resistance in overweight/obese children. To relate these biochemical variables with the risk of this disease in the population studied. Methods: The study was cross-sectional and prospective, with 46 overweight/obese school children (28 female, 18 male; mean age 8.6 years). The control group consisted of 45 children, paired by age and gender. Hepatic steatosis, evaluated by ultrasound, was classified as normal, mild, moderate, or severe. Also evaluated were serum retinol levels; thiobarbituric acid reactive substances; lipid profile; and fasting glucose and serum insulin levels, used for the calculation of the Homeostasis Model Assessment. Results: Hepatic ultrasound alterations were found in 56.5% and 48,9% of the overweight/obese and control group children, respectively. Presence of obesity was associated with high levels of triglycerides (OR = 4.6; P = 0.002). In the studied children, the risk of steatosis was related to a trend to a higher percentage of retinol inadequacy (OR = 2.8; p = 0.051); there was no association with thiobarbituric acid reactive substances, lipid profile, or insulin resistance. Conclusions: The high frequency of non-alcoholic fatty liver disease in both groups, evaluated by hepatic ultrasound, in low-socioeconomic level children, independent of nutritional condition and without significant association with insulin resistance, emphasizes that especially in developing countries, other risk factors such as micronutrient deficiencies (e.g. vitamin A) are involved.

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