F Ozen1, N Koçak, Ii Halil Yildirim, G Hacimuto, V Sen. 1. Department of Medical Genetics, Istanbul Medeniyet University, Goztepe Training and Research Hospital, Istanbul, Turkey. dr.fozen@hotmail.com.
Abstract
OBJECTIVE: Inflammation may play an important role in the etiopathology of febrile convulsions (FC). IL-1β is an important mediator of inflammation and fever is also important information of FCs. It is suggested that there may be a relationship between polymorphisms of IL-1β and FC. The aim of the present study is to investigate the polymorphic situation of promoter region of IL-1β in two sites (-31 and -511) and assess the IL-1 RA VNTR polymorphisms in FC patients in comparison with healthy control groups. MATERIALS AND METHODS: Fifty FC patients and 50 healthy controls (HC) were included in the study. DNA extraction was performed by QIAamp DNA Mini Kit from peripheral blood lymphocytes of all subjects. IL-1β promoter polymorphisms were analyzed by PCR-RFLP, IL-1 RA VNTR polymorphisms were analyzed by PCR-agarose gel electrophoresis. RESULTS: Genotype distribution of IL-1β promoter region in position -31 was statistically different between FC patients and control groups. Allele I and allele II of IL-1 RA distribution were also statistically different in FC patients and healthy controls. CONCLUSIONS: We have found a significant association between IL-1 RA allele distribution and FC and a poor correlation of T/C substitution at the -31 position of IL-1β promoter in FC. Further studies are needed to investigate the gene expression levels and polymorphic situation in same samples.
OBJECTIVE:Inflammation may play an important role in the etiopathology of febrile convulsions (FC). IL-1β is an important mediator of inflammation and fever is also important information of FCs. It is suggested that there may be a relationship between polymorphisms of IL-1β and FC. The aim of the present study is to investigate the polymorphic situation of promoter region of IL-1β in two sites (-31 and -511) and assess the IL-1 RA VNTR polymorphisms in FC patients in comparison with healthy control groups. MATERIALS AND METHODS: Fifty FC patients and 50 healthy controls (HC) were included in the study. DNA extraction was performed by QIAamp DNA Mini Kit from peripheral blood lymphocytes of all subjects. IL-1β promoter polymorphisms were analyzed by PCR-RFLP, IL-1 RA VNTR polymorphisms were analyzed by PCR-agarose gel electrophoresis. RESULTS: Genotype distribution of IL-1β promoter region in position -31 was statistically different between FC patients and control groups. Allele I and allele II of IL-1 RA distribution were also statistically different in FC patients and healthy controls. CONCLUSIONS: We have found a significant association between IL-1 RA allele distribution and FC and a poor correlation of T/C substitution at the -31 position of IL-1β promoter in FC. Further studies are needed to investigate the gene expression levels and polymorphic situation in same samples.
Authors: Salah Al Morshedy; Hosam F Elsaadany; Hany E Ibrahim; Ashraf M Sherif; Mohsen A A Farghaly; Mayy A N Allah; Heba Abouzeid; Shaimaa S A Elashkar; Mohammed E Hamed; Manar M Fathy; Atef M Khalil; Maha A Noah; Mohamed S Hegab; Ahmed R Ahmed; Mustafa I A Hashem; Ahmed A Emam; Heba G Anany; Boshra R Ibrahim; Heba H Gawish; Rehab M Nabil; Lobna Abdel Fattah; Salah F Alsayed Journal: Medicine (Baltimore) Date: 2017-03 Impact factor: 1.889