Unknown

Dataset Information

0

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


ABSTRACT: 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 (NF?B) and tumour necrosis factor alpha (TNF-?). This study aimed to investigate the association of CARD10 rs6000782 (g.37928186A?>?C) and TNF gene promoter rs1799724 (c.-1037C?>?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 NF?B-p65 and TNF-?. Fifty-six pAIH patients and 44 age- and sex-matched healthy controls were included. Variant genotyping was performed by polymerase chain reaction (PCR). Serum NF?B-p65 and TNF-? 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 NF?B-p65 and TNF-? were higher in pAIH differentiating both groups. Moreover, the recessive model of rs6000782 revealed a significant association with the levels of both NF?B-p65 and TNF-?. In conclusion, rs6000782 and rs1799724 variants are potential genetic risk factors for pAIH predisposition, with the former affecting NF?B-p65 and TNF-? 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.

SUBMITTER: Motawi TK 

PROVIDER: S-EPMC6300463 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

altmetric image

Publications

Association of <i>CARD10</i> rs6000782 and <i>TNF</i> rs1799724 variants with paediatric-onset autoimmune hepatitis.

Motawi Tarek K TK   El-Maraghy Shohda A SA   Sharaf Sahar A SA   Said Salma E SE  

Journal of advanced research 20181020


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 (NFκB) and tumour necrosis factor alpha (TNF-α). This study aimed to investigate the association of <i>CARD10</i> rs6000782 (g.37928186A > C) and <i>TNF</i> gene promoter rs179  ...[more]

Similar Datasets

| S-EPMC11247142 | biostudies-literature
| S-EPMC4677039 | biostudies-literature
| S-EPMC4633631 | biostudies-literature
| S-EPMC3733077 | biostudies-literature
| S-EPMC10052918 | biostudies-literature
| S-EPMC4952362 | biostudies-literature
| S-EPMC7757864 | biostudies-literature
| S-EPMC4503166 | biostudies-literature
| S-EPMC8042108 | biostudies-literature
| S-EPMC8404983 | biostudies-literature