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

被引：20

作者：

Sookoian, Silvia ^{[1
]}

Pirola, Carlos J. ^{[2
]}

机构：

[1] Univ Abierta Interamer, Clin & Mol Hepatol Ctr Altos Estudios Ciencias Hu, Consejo Nacl Invest Cient & Tecn CONICET, Av Montes Oca 745,2 Piso,1270AAH CABA, Buenos Aires, DF, Argentina

[2] Univ Abierta Interamer, Syst Biol Complex Dis, Ctr Altos Estudios Ciencias Humanas & Salud CAECI, Consejo Nacl Invest Cient & Tecn CONICET, Av Montes Oca 745,2 Piso,1270AAH CABA, Buenos Aires, DF, Argentina

来源：

CLINICAL AND MOLECULAR HEPATOLOGY | 2023年 / 29卷

关键词：

Nonalcoholic steatohepatitis; Genetics; PNPLA3; HSD17B13; Immune system; SUPERFAMILY MEMBER 2; CONFERS SUSCEPTIBILITY; VARIANT; PNPLA3; STEATOHEPATITIS; ASSOCIATION; FIBROSIS;

D O I：

10.3350/cmh.2022.0318

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

The knowledge on the genetic component of non-alcoholic fatty liver disease (NAFLD) has grown exponentially over the last 10 to 15 years. This review summarizes the 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 effects.

引用

页码：S184 / S195

页数：12

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