scholarly journals High frequency of the PNPLA3 rs738409 [G] single-nucleotide polymorphism in Hmong individuals as a potential basis for a predisposition to chronic liver disease

Cancer ◽  
2018 ◽  
Vol 124 ◽  
pp. 1583-1589 ◽  
Author(s):  
Clifford G. Tepper ◽  
Julie H. T. Dang ◽  
Susan L. Stewart ◽  
Dao M. Fang ◽  
Kimberly A. Wong ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Liver Disease ◽  
Chronic Liver Disease ◽  
High Frequency ◽  
Chronic Liver ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Potential Basis

scholarly journals Frequency and Characteristics of Overestimated Renal Function in Japanese Patients with Chronic Liver Disease and Its Relation to Sarcopenia

Nutrients ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 2415
Author(s):  
Sonoe Yoshida ◽  
Goki Suda ◽  
Masatsugu Ohara ◽  
Qingjie Fu ◽  
Zijian Yang ◽  
...  
Keyword(s):  
Renal Function ◽  
Liver Disease ◽  
Chronic Liver Disease ◽  
Muscle Mass ◽  
High Frequency ◽  
Psoas Muscle ◽  
Japanese Patients ◽  
Multivariate Regression Analysis ◽  
Chronic Liver ◽  
Function Loss

Renal dysfunction and sarcopenia are important prognostic factors in patients with chronic liver disease (CLD). Muscle atrophy can cause the overestimation of renal function based on serum creatinine. However, the frequency of overestimated renal function in Japanese patients with CLD and its relationship with sarcopenia are unclear. In present study, we evaluated the frequency of overestimated renal function, defined as a >20% higher eGFR using creatinine than using cystatin C, in 307 patients with CLD as well as its relationship with indicators of sarcopenia. In total, 24.8% of patients had overestimated renal function. In a multivariate regression analysis, liver cirrhosis (p = 0.004) and psoas muscle mass index (p = 0.049) were significantly associated with overestimated renal function. Loss of skeletal muscle mass was significantly more frequent in both male and female patients with overestimated renal function than without. In males, the loss of muscle strength and rate of sarcopenia, defined as loss of muscle mass and strength, were significantly higher in patients with than without overestimated renal function. The high frequency of overestimated renal function in Japanese patients suggests that indicators of renal function should be carefully considered; furthermore, monitoring and interventions for both renal function and sarcopenia are needed in patients with CLD.

scholarly journals PNPLA3 Single Nucleotide Polymorphism Prevalence and Association with Liver Disease in a Diverse Cohort of Persons Living with HIV

Biology ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 242
Author(s):  
Kenneth E. Sherman ◽  
Susan D. Rouster ◽  
Heidi Meeds ◽  
Javier Tamargo ◽  
Jun Chen ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Liver Disease ◽  
Hepatic Steatosis ◽  
Disease Severity ◽  
Proton Density ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Alcoholic Fatty Liver ◽  
Persons Living With Hiv ◽  
Living With Hiv

In persons living with HIV (PLWH), there are multiple sources of liver injury. Gene polymorphisms of PNPLA3 (patatin-like phospholipase domain-containing protein 3) have been identified as an important cofactor for increased disease severity in both alcoholic and non-alcoholic steatohepatitis (NASH). We utilized a well-characterized cohort of ethnically and racially diverse patients with HIV to define the prevalence of PNPLA3 SNPs (single nucleotide polymorphism) (rs738409), and to determine the relationship to hepatic steatosis and liver fibrosis. Steatosis was determined using MRI-PDFF (magnetic resonance imaging-determined proton density fat fraction) and fibrosis was estimated using MR Elastography (MRE). From the Miami Area HIV Study (MASH) cohort, 100 HIV positive participants and 40 controls (HCV/HIV = 20; HCV and HIV negative = 20) were evaluated. Nearly 40% of all participants carried the variant G allele associated with increased liver disease severity and 5% were homozygotic GG. The variant SNP occurred most frequently in those self-identified as Hispanic compared to white or Black participants. Hepatic steatosis (>5% fat) was present significantly more often in those without HIV vs. those with (p < 0.001). Putative NAFLD/NASH was found to be present in 6% of tested subjects, who were HIV monoinfected. BMI was lower in those that carried the G allele for PNPLA3. This finding suggests that PNPLA3 may be an independent component to NAFLD (non-alcoholic fatty liver disease)/NASH development and longitudinal follow-up of the cohort is warranted.

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