Study of (IL) 12 and 18 and BTNL2 gene polymorphisms in Greek patients with sarcoidosis

Doctoral Dissertation uoadl:1307104 205 Read counter

Τομέας Υγείας - Μητέρας - Παιδιού
Library of the School of Health Sciences
Deposit date:
Δελαβέρη Αικατερίνη
Dissertation committee:
Καθηγητής Γενετικής Εμμανουήλ Καναβάκης, Ομότιμος Καθηγητής Χαράλαμπος Ρούσσος, Επίκουρη Καθηγήτρια Γενετικής Τζέτη Μαρία
Original Title:
Μελέτη πολυμορφισμών ιντερλευκινών (IL) 12 και 18 και του γονιδίου BTNL2 σε Έλληνες πάσχοντες από σαρκοείδωση
Translated title:
Study of (IL) 12 and 18 and BTNL2 gene polymorphisms in Greek patients with sarcoidosis
Sarcoidosis is a multisystem granulomatous disease of unknown etiology that
primarily affects people aged 20-40 years.
Frequently affected lung and the lymphatic system and is characterized by the
formation of noncaseating epithelioid cell granulomas in affected tissues.
The aim of this study was to investigate the association of polymorphisms +
1602A/C (rs3212227) of IL-12Bp40 and -137G/C (rs187238) of IL-18 and gene BTNL2
with the pathogenesis of sarcoidosis.
The group of patients consisted of 146 Greek patients. The control group
consisted of 90 healthy volunteers.
From the study of genes was found that the rs3212227 polymorphism of IL-12Βp40
is not associated with the pathogenesis of sarcoidosis.
For the polymorphism -137G/C (rs187238) of IL-18 was found that the C allele is
a possible risk factor of sarcoidosis, while the G allele is likely a
protective factor in the Greek population.
From the study of gene BTNL2 were detected 24 different mutations in 102
patients (69.9%) with sarcoidosis and 15 different mutations in 56
The mutation p.W94R (rs28362682) was found to be associated with the onset of
mild pulmonary disease.
There was no similar correlation of other mutations or polymorphism rs2076530
which has been shown to be associated with the onset of sarcoidosis in other
European populations.
Sarcoidosis, BTNL2 gene, IL 12, 18, Mutations, Polymorphisms
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