Computational Pipeline for Next-Generation Sequencing (NGS) Studies in Genetics of NASH

Salatino, Adrián Emanuel; Sookoian, Silvia; Pirola, Carlos José

doi:10.1007/978-1-0716-2128-8_16

Cited by 2 publications

(2 citation statements)

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“…Genetic discoveries in the field of NAFLD have mainly been motorized by the use of genome-wide (GWAS) [ 9 , 10 ], exome-wide (EWAS) [ 11 ], and more recently, phenome-wide (PHEWAS) association studies using electronic health records [ 12 ], as well as high-throughput sequencing technologies, which allowrefining and mapping of the discovered variants [ 13 ].…”

Section: A Short Overview Of Variants Influencing the Risk And Protec...mentioning

confidence: 99%

Genetics in non-alcoholic fatty liver disease: The role of risk alleles through the lens of immune response

Sookoian

Pirola

2023

Clin Mol Hepatol

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The knowledge of the genetic component of non-alcoholic fatty liver disease (NAFLD) has grown exponentially over the last 10-15 years. This review summarizes current evidence and the latest developments in the genetics of NAFLD and non-alcoholic steatohepatitis (NASH) from the immune system's perspective.Activation of innate and or adaptive immune response is an essential driver of NAFLD disease severity and progression. Lipid and immune pathways are crucial in the pathophysiology of NAFLD and NASH. Here, we highlight novel applications of genomic techniques, including single-cell sequencing and the genetics of gene expression, to elucidate the potential involvement of NAFLD/NASH-risk alleles in modulating immune system cells.Together, our focus is to provide an overview of the potential involvement of the NAFLD/NASH-related risk variants in mediating the immune-driven liver disease severity and diverse systemic pleiotropic effect/s.

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Section: A Short Overview Of Variants Influencing the Risk And Protec...mentioning

confidence: 99%

Genetics in non-alcoholic fatty liver disease: The role of risk alleles through the lens of immune response

Sookoian

Pirola

2023

Clin Mol Hepatol

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View full text Add to dashboard Cite

show abstract

“…While there are different paths toward precision medicine [ 1 ], genetic assessment may be among the top strategies. The current knowledge of the complete human genome sequence and the availability of next-generation sequencing technologies [ 2 ] to decipher individual patients’ genetic make-up also invite fully integrated genomic medicine. Therefore, patients may be classified into high or low risk for disease onset or severity, and therapeutic interventions can be personalized.…”

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confidence: 99%