tailieunhanh - Association of CARD10 rs6000782 and TNF rs1799724 variants with paediatric-onset autoimmune hepatitis

Although the pathogenesis of paediatric-onset autoimmune hepatitis (pAIH) remains incompletely understood, genetic variants and environmental factors are known to be involved. Caspase recruitment domain family member 10 (CARD10) is a scaffold protein that participates in a complex pathway activating nuclear factor kappa-B (NFjB) and tumour necrosis factor alpha (TNF-a). This study aimed to investigate the association of CARD10 rs6000782 ( > C) and TNF gene promoter rs1799724 ( > T) variants with pAIH susceptibility in a cohort of Egyptian children. The research was also extended to assess the relationship of these variants with levels of NFjB-p65 and TNF-a. Fifty-six pAIH patients and 44 age- and sex-matched healthy controls were included. Variant genotyping was performed by polymerase chain reaction (PCR). Serum NFjB-p65 and TNF-a levels were measured using enzyme-linked immunosorbent assays (ELISAs). rs6000782 C and rs1799724 T alleles, separate or in combination, were significantly increased in pAIH patients compared to controls. Serum levels of NFjB-p65 and TNF-a were higher in pAIH differentiating both groups. Moreover, the recessive model of rs6000782 revealed a significant association with the levels of both NFjB-p65 and TNF-a. In conclusion, rs6000782 and rs1799724 variants are potential genetic risk factors for pAIH predisposition, with the former affecting NFjB-p65 and TNF-a levels. Overall, the inflammatory cascade was associated with the degree of liver cell destruction. Clinically, screening and genetic counselling are recommended for relatives of pAIH patients. | Association of CARD10 rs6000782 and TNF rs1799724 variants with paediatric-onset autoimmune hepatitis

• Sức khỏe trẻ em
• Tumour necrosis factor
• Association of CARD10 rs6000782
• TNF rs1799724 variants
• Paediatric onset autoimmune hepatitis
• Genetic counselling
• psychological processes
• potential space
• interview purpose
• physical space
• Psychological stress
• BMC Cancer
• Hereditary breast and ovarian cancer
• BRCA2 mutation
• Recurrent mutation
• Andalusian population
• Medical genetics at a glance
• Congenital abnormalities
• Multifactorial inheritance
• Twin studies
• Molecular diagnosis
• Disease management
• Ethical and social issues
• Polygenic risk
• Breast cancer
• Single nucleotide polymorphism
• Genomic testing
• Behavioral outcomes
• Psychosocial interventions
• Familial colorectal cancer
• Systematic review