Interleukin-1β secretion in hippocampal sclerosis patients with mesial temporal lobe epilepsy.

Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a common medically intractable epilepsy syndrome. Although pathogenesis of HS still remains highly controversial, genetics may play a role as a predisposing factor. Previous evidence in a Japanese population revealed that the homozygotes for allele T at position -511 of the interleukin (IL)-1β gene promoter region (IL-1β-511 T/T) confers susceptibility to the development of HS.

Tbx3 represses PTEN and is over-expressed in head and neck squamous cell carcinoma.

Background: Despite advances in diagnostic and treatment strategies, head and neck squamous cell cancer (HNSCC) constitutes one of the worst cancer types in terms of prognosis. PTEN is one of the tumour suppressors whose expression and/or activity have been found to be reduced in HNSCC, with rather low rates of mutations within the PTEN gene (6-8%). We reasoned that low expression levels of PTEN might be due to a transcriptional repression governed by an oncogene.

Single nucleotide polymorphism and production of IL-1β and IL-10 cytokines in febrile seizures.

Inflammation and genetics may play a role in the pathogenesis of febrile seizures. The aim of this study was to investigate the spontaneous and lipopolysaccharide (LPS)-induced production of IL-1β and IL-10, and the association between IL-1β (-511) and IL-10 (-1082) single nucleotide polymorphisms with LPS-induced cytokine production. The study included 92 febrile seizure patients and 132 healthy controls.

Interleukin-6 gene polymorphism in febrile seizures.

Febrile seizures comprise a common type of pediatric convulsion. Inflammation and genetics may be involved in their pathogenesis. Regarding the role of cytokines (especially interleukin-6) in febrile responses, we performed a case control study of interleukin-6 gene (-174, -572, and -597) single-nucleotide polymorphisms to learn if correlations existed between these particular polymorphisms and febrile seizures.

Effects of vitamin D receptor gene polymorphisms on susceptibility to disease and bone mineral density in Turkish patients with type 1 diabetes mellitus.

Background: Vitamin D receptor (VDR) gene is regarded as one of the candidate genes for type 1 diabetes mellitus (T1D) susceptibility and of some genetic factors involved in the development of osteoporosis in this group.

Study Design: We characterized the VDR gene polymorphism (BsmI, ApaI, TaqI, FokI and Cdx-2 binding site) in a group of Turkish patients with T1D (n=90) and correlated respective VDR genotypes with the bone mass and some parameters of bone turnover.

Results: There were no differences in the genotype frequencies of the BsmI, ApaI, TaqI and Cdx-2 polymorphisms in patients and control subjects.