Association Between IL28B, IL29 Gene Polymorphisms and Clinical Manifestations of Behçet's Disease.

BACKGROUND: Behçet's disease (BD) is a chronic, multisystemic, inflammatory disease characterized by relapsing episodes of a wide spectrum of clinical findings. The role and mechanism of IFN-λs in BD remain unknown. The aim of this study was to investigate the relationship between IL29 and IL28B gene polymorphisms and BD or clinical manifestations. METHODS: Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, single-nucleotide polymorphisms of IL28B rs8099917 (IL28 G/T), rs12979860 (IL28 C/T) and IL29 rs30461 (IL29 T/C) were studied in 94 patients with BD and 90 healthy controls. RESULTS: Our study did not show any relationship between Behçet Disease and genotype or allele frequencies of IL28B (rs8099917, rs12979860) and IL29 (rs30461) gene polymorphisms (p > .05). We found that the TT genotype of rs12979860 (IL28 C/T) polymorphism is higher in healthy controls and patients without central nervous system (CNS) involvement compared to patients with CNS involvement (p = .014 and p = .022). CONCLUSIONS: As a result, although the relationship was found between IL28 and IL29 gene polymorphisms with some clinical manifestations of BD, it was not directly related to the predisposition of the disease. The relationship between IL-28 and IL-29 which act as regulators in inflammatory processes, with Behçet disease, needs to be investigated in further studies.

Determination of candidate genes involved in schizophrenia using the whole-exome sequencing.

OBJECTIVES: We used the whole-exome sequencing to evaluate several genes suspected of being involved in the pathogenesis of schizophrenia. METHODS: The study sample was composed of two families. In the first family, two siblings had schizophrenia, and the parents were healthy. In the second family, two siblings had schizophrenia, while the other sibling and the parents did not. RESULTS: Indels were detected in some genes, including SPON1, GRIA3, SMAD5, PCLO, KMT2C, SRD5A2, SEMA3B, NCOR2, GPHB5, FAM174B, CLTCL1, and TMEM216. The insertion of three nucleotides (TGA) was detected in the sequence of the PCLO gene. The mutation resulted in the insertion of aspartic acid (Asp, D) in the amino acid sequence of the PCLO protein. Indels detected in SPON1, GRIA3, SMAD5, KMT2C, SRD5A2, SEMA3B, GPHB5, CLTCL1, and TMEM216 were shown to be frameshifting. Bioinformatics analysis showed that the indels in SPON1, GRIA3, SMAD5, KMT2C, SRD5A2, SEMA3B, NCOR2, GPHB5, FAM174B, CLTCL1, and TMEM216 had a damaging effect, while the indel in PCLO had a non-damaging effect on protein function. CONCLUSION: To the best of our knowledge, no previous studies have examined the relationship between the pathogenesis of schizophrenia and the gene mutations identified in this study (Tab. 1, Ref, 42).

A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).

We report on a twenty-two months old male patient with hypotonia, mental and motor retardation and trigonocephaly. Standard GTG banding chromosomal analysis (from metaphyses of a periferal blood lymphocyte culture) showed 46,XY, der(9) monosomy 9pter-->p22, trisomy 10q26--> qter karyotype. This unbalanced translocation resulted from the father's t(9,10) (p22;p26) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 10q are rare chromosomal disorders. To our knowledge, this is the first case report in the literature of a deletion of 9pter-->p22.3 and a duplication of 10q26-->qter. We assume that the clinical anomalies are due to der(9) monosomy 9pter-->p22, trisomy 10q-->26qter.