Association of sorting and assembly machinery component 50 homolog gene polymorphisms with nonalcoholic fatty liver disease susceptibility

Qiao, Ming; Yang, Jianhua; Zhu, Yi; Hu, Junping

doi:10.1097/md.0000000000029958

Cited by 3 publications

(1 citation statement)

References 36 publications

(44 reference statements)

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“…Therefore, it would not be surprising if SAMM50 had to be added to this list. While only one study has linked the genetic variation of SAMM50 to HCC [ 16 ], the association to NAFLD was reported from different cohorts [ 17 , 18 , 40 ] and confirmed in a meta-analysis [ 41 ]. However, it is remarkable that all these studies included exclusively Asian patients, while the only study involving Caucasian patients was very small (40 cases and 24 controls) and did not perform multivariate analysis of the different genetic risk variants [ 42 ].…”

Section: Discussionmentioning

confidence: 94%

Genetic Variation of SAMM50 Is Not an Independent Risk Factor for Alcoholic Hepatocellular Carcinoma in Caucasian Patients

Nischalke

Schmalz

Buch

et al. 2022

IJMS

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Hepatocellular carcinoma (HCC) is a severe complication of advanced alcoholic liver disease, which is modulated by genetic predisposition. Identifying new genetic loci might improve screening. Genetic variation of SAMM50 was linked to HCC. We aimed to validate this finding in a large cohort of patients with advanced alcoholic liver disease (ALD). A large, well-characterised cohort of patients with alcoholic cirrhosis without (n = 674) and with (n = 386) HCC, as well as controls with HCC due to viral hepatitis (n = 134), controls with heavy alcohol abuse without liver disease (n = 266) and healthy subjects (n = 237), were genotyped for SAMM50 rs3827385 and rs3761472 and for PNPLA3 rs738409. Genotype frequencies were compared between patients with alcohol-associated cirrhosis with and without HCC by uni- and multivariate analysis. Minor variants in both SAMM50 rs3827385 and rs3761472 were significantly more frequent in patients with alcoholic HCC versus alcoholic cirrhosis and versus the control cohorts. An even stronger association was noted for PNPLA3 rs738409. The univariate analysis resulted in an odds ratio (OR) of 1.8 for carriers of at least one minor variant of SAMM50 rs3827385 and rs3761472 (each p < 0.001), but this association was lost in multivariate analysis with age (OR 1.1/year), male sex (OR 3.2), diabetes (OR 1.9) and carriage of PNPLA3 148M (OR 2.1) remaining in the final model. Although minor variants of both SAMM50 loci are strongly associated with alcoholic HCC, this association is not independent of carriage of the well-known risk variant PNPLA3 148M.

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Section: Discussionmentioning

confidence: 94%

Genetic Variation of SAMM50 Is Not an Independent Risk Factor for Alcoholic Hepatocellular Carcinoma in Caucasian Patients

Nischalke

Schmalz

Buch

et al. 2022

IJMS

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Molecular Insights of Nonalcoholic Fatty Liver Disease Pathogenesis

Dawood,

Salum,

Abd El-Meguid

et al. 2024

Journal of Interferon & Cytokine Research

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SAMM50-rs2073082, -rs738491 and -rs3761472 Interactions Enhancement of Susceptibility to Non-Alcoholic Fatty Liver Disease

Zhao,

Xu,

Wei

et al. 2023

Biomedicines

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Background and aim: Several studies have identified that three SAMM50 polymorphisms (rs2073082, rs738491, rs3761472) are associated with an increased risk of non-alcoholic fatty liver disease (NAFLD). However, the clinical significance of the SAMM50 SNP in relation to NAFLD remains largely unknown. Therefore, we conducted a clinical study and SNP–SNP interaction analysis to further elucidate the effect of the SAMM50 SNP on the progression of NAFLD in the elderly. Methods: A total of 1053 patients over the age of 65 years were recruited. Liver fat and fibrosis were detected by abdominal ultrasound or FibroScan, respectively. Genomic DNA was extracted and then genotyped by Fluidigm 96.96 Dynamic Array. Multivariable logistic regression was used to evaluate the association between NAFLD and SNP. SNP–SNP interactions were analyzed using generalized multivariate dimensionality reduction (GMDR). Results: The risk of NAFLD was substantially higher in people who carried SAMM50-rs2073082 G and -rs738491 T alleles (OR, 1.962; 95% CI, 1.448–2.659; p < 0.001; OR, 1.532; 95% CI, 1.246–1.884; p = 0.021, respectively) compared to noncarriers. Carriers of the rs738491 T and rs3761472 G alleles in the cohort showed a significant increase in liver stiffness measurements (LSM). The combination of the three SNPs showed the highest predictive power for NAFLD. The rs2073082 G allele, rs738491 T allele and rs3761472 G carriers had a two-fold higher risk of NAFLD compared to noncarriers. Conclusions: Our research has demonstrated a strong correlation between the genetic polymorphism of SAMM50 and NAFLD in the elderly, which will contribute to a better understanding of the impact of age and genetics on this condition. Additionally, this study provides a potential predictive model for the early clinical warning of NAFLD.

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Association of sorting and assembly machinery component 50 homolog gene polymorphisms with nonalcoholic fatty liver disease susceptibility

Cited by 3 publications

References 36 publications

Genetic Variation of SAMM50 Is Not an Independent Risk Factor for Alcoholic Hepatocellular Carcinoma in Caucasian Patients

Genetic Variation of SAMM50 Is Not an Independent Risk Factor for Alcoholic Hepatocellular Carcinoma in Caucasian Patients

Molecular Insights of Nonalcoholic Fatty Liver Disease Pathogenesis

SAMM50-rs2073082, -rs738491 and -rs3761472 Interactions Enhancement of Susceptibility to Non-Alcoholic Fatty Liver Disease

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