Τομέας Παθολογίας
Library of the School of Health Sciences

2019-11-11

2019

Dellaporta Erminia

Κυριακή Κανελλακοπούλου, Καθηγήτρια, Ιατρική, ΕΚΠΑ
Ευάγγελος Γιαμαρέλλος-Μπουρμπούλης, Καθηγητής, Ιατρική, ΕΚΠΑ
Αναστασία Αντωνιάδου, Αναπληρώτρια Καθηγήτρια, Ιατρική, ΕΚΠΑ
Κωνσταντίνος Τριανταφύλλου, Αναπληρωτής Καθηγητής, Ιατρική, ΕΚΠΑ
Αντώνιος Παπαδόπουλος, Αναπληρωτής Καθηγητής, Ιατρική, ΕΚΠΑ
Ιωάννης Παπανικολάου, Αναπληρωτής Καθηγητής, Ιατρική, ΕΚΠΑ
Ιωάννης Βλαχογιαννάκος, Αναπληρωτής Καθηγητής, Ιατρική, ΕΚΠΑ

Οι γονιδιακοί πολυμορφισμοί των NLRPs (NALP12) στην φλεγμονώδη νόσο του εντέρου

Greek

Single nucleotide polymorphisms of NLRPs (NALP12) in inflammatory bowel disease.

Background: We aimed to investigate the impact of the single nucleotide polymorphisms of rs34436714 of the NOD-like receptor protein 12 gene on the production of tumor necrosis factor-alpha (TNF-α) in patients with inflammatory bowel disease (IBD).
Methods: In a matched-case control study90 patients with IBD, 56 with Crohn disease (CD) and 34 with ulcerative colitis, were genotyped and compared to 98 healthy comparators matched for age and gender.Expression level of TNFα, interleukin (IL)-6, IL-12, and soluble triggering receptor expressed on myeloid cells were measured in patients’ sera. Peripheral blood mononuclear cells (PBMCs) were isolated and stimulated for TNFα production.
Results: Serum TNFα was greater among carriers of GT/TT genotypes of rs34436714. Stimulated TNFα production was also higher in carriers of GT/TT genotypes. The frequency of CD with fistulizing behavior and with CD involving the small intestine was greater among carriers of GT/TT genotypes than of the GG genotype. Distribution of the GG, GT, and TT genotypes of rs34436714 were in Hardy-Weinberg equilibrium in both groups. The genotype distribution was the same in both groups.
Conclusion: Carriage of alleles of rs34436714 was accompanied by greater circulating levels of TNFα and by greater capacity for stimulated TNFα production by PBMCs. These alleles had an impact on the phenotype of patients with CD.

Health Sciences

Inflammatory bowel disease, NLRP12, Single nucleotide polymorphisms

No

0

Yes

224

145

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https://pergamos.lib.uoa.gr/uoa/dl/object/2886429