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Pleiotropy within gene variants associated with nonalcoholic fatty liver disease and traits of the hematopoietic system

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World Journal of Gastroenterology 2021年第4期27卷 305-320页

作者： carlos jose pirola Adrian Salatino Silvia Sookoian Department of Molecular Genetics and Biology of Complex Diseases National Scientific and Technical Research Council(CONICET)University of Buenos AiresInstitute of Medical Research(IDIM)Ciudad Autónoma de Buenos Aires C1427AROArgentina Institute of Medical Research A Lanari University of Buenos AiresSchool of MedicineCiudad Autónoma de Buenos AiresCiudad Autónoma de Buenos Aires C1427AROArgentina Department of Clinical and Molecular Hepatology National Scientific and Technical Research Council(CONICET)University of Buenos AiresInstitute of Medical Research(IDIM)Ciudad Autónoma de Buenos Aires C1427AROArgentina

Genome-wide association studies of complex diseases,including nonalcoholic fatty liver disease(NAFLD),have demonstrated that a large number of variants are implicated in the susceptibility of multiple traits—a phenomenon known as pleiotropy that is increasingly being explored through phenome-wide association *** focused on the analysis of pleiotropy within variants associated with hematologic traits and *** used information retrieved from large public National Health and Nutrition Examination Surveys,Genome-wide association studies,and phenome-wide association studies based on the general population and explored whether variants associated with NAFLD also present associations with blood cell-related ***,we applied systems biology approaches to assess the potential biological connection/s between genes that predispose affected individuals to NAFLD and nonalcoholic steatohepatitis,and genes that modulate hematological-related traits—specifically platelet *** reasoned that this analysis would allow the identification of potential molecular mediators that link NAFLD with *** associated with platelet count are most highly expressed in the liver,followed by the pancreas,heart,and ***,genes associated with NAFLD presented high expression levels in the brain,lung,spleen,and *** mapping,gene prioritization,and functional analysis of the most significant loci(P<1×10-8)revealed that loci involved in the genetic modulation of platelet count presented significant enrichment in metabolic and energy balance *** conclusion,variants in genes influencing NAFLD exhibit pleiotropic associations with hematologic traits,particularly platelet ***,significant enrichment of related genes with variants influencing platelet traits was noted in metabolic-related ***,this approach yields novel mechanistic insights into NAFLD pathogenesis.

关键词： Nonalcoholic fatty liver disease Nonalcoholic steatohepatitis Platelets Leukocytes Hematologic traits Genetics

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Common genetic variations in CLOCK transcription factor are associated with nonalcoholic fatty liver disease

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World Journal of Gastroenterology 2007年第31期13卷 4242-4248页

作者： Silvia Sookoian Gustavo Castao Carolina Gemma Tomas Fernández Gianotti carlos jose pirola Instituto de Investigaciones Medicas A. Lanari. Universidad de Buenos Aires CONICET Combatiente de Malvinas 3150 1427-Ciudad Autonoma de Buenos Aires Argentina Consejo de Investigación GCBA Buenos Aires Argentina Consejo de Investigación GCBA Buenos Aires Argentina Instituto de Investigaciones Medicas A. Lanari. Universidad de Buenos Aires CONICET Combatiente de Malvinas 3150 1427-Ciudad Autonoma de Buenos Aires Argentina

To investigate the role of gene variants and derived haplotypes of the CLOCK transcription factor in nonalcoholic fatty liver disease （NAFID） and their relation with the disease ***： A total of 136 patients with NAFLD and 64 healthy individuals were studied. Liver biopsy was performed in 91 patients. Six tag SNPs showing a minor allele frequency 〉 10% （rs1554483 C/G; rs11932595 A/G; rs4580704 C/G; rs6843722 A/C; rs6850524 C/G and rs4864548 A/G） encompassing 117 kb of chromosome 4 and representing 115 polymorphic sites （P 〉 0.8） were genotyped. RESULTS： rs11932595 and rs6843722 showed significant associations with NAFLD （empiric P = 0.0449 and 0.023, respectively）. A significant association was also observed between clinical or histologic spectrum of NAFLD and rs1554483 （empiric P = 0.0399）, rs6843722 （empiric P = 0.0229） and rs6850524 （empiric P = 0.00899） and between fibrosis score and rs1554483 （empiric P = 0.02697）, rs6843722 （empiric P = 0.01898） and rs4864548 （empiric P = 0.02697）. Test of haplotypic association showed that CLOCK gene variant haplotypes frequencies in NAFLD individuals significantly differed from those in controls （empiric P = 0.0097）.CONCLUSION： Our study suggests a potential role of the CLOCK polymorphisms and their haplotypes insusceptibility to NAFLD and disease severity.

关键词： Circadian rhythm Circadian Iocomoter outputcycles protein kaput Gene variants Haplotypes Fattyliver Liver disease Obesity Nonalcoholic steatohepatitis

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