Potential role of FKBP5 single-nucleotide polymorphisms in functional seizures.

OBJECTIVE: We investigated the associations between FKBP5 single-nucleotide polymorphisms (SNPs) and functional seizures (FS). METHODS: Seventy patients with FS, 140 with major depressive disorder (MDD), and 140 healthy controls were studied. Their DNAs were analyzed for the rs1360780 in the 3' region and rs9470080 in the 5' region of the FKBP5. Childhood trauma questionnaire and hospital anxiety and depression scale were used. RESULTS: Patients with FS and those with MDD had less GG and more AA genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. Similar results were observed for allelic frequencies. There were no significant differences between FS and MDD groups in terms of genotype and allelic frequencies for both SNPs. The results of multinomial logistic regression analysis showed that FKBP5 polymorphisms were not associated with the diagnosis. SIGNIFICANCE: Patients with FS and those with MDD had significantly different genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. However, it seems that FKBP5 polymorphisms were not associated with FS in the absence of depression. Further genetic investigations of patients with FS may increase our understanding of the neurobiological underpinnings of this condition, but such studies should be large enough and very well designed; they should include a comparison group with depression in addition to a healthy control group.

Association of the functional serotonin transporter haplotype with familial form of obsessive compulsive disorder in Iranian patients.

OBJECTIVE: Several polymorphisms have been reported in the 5-HTTLPR of the serotonin transporter gene (SLC6A4). Family-based evidences for the association of 5-HTTLPR polymorphisms with OCD were previously reported but results were controversial. The present study investigated the possible correlation of SLC6A4 polymorphisms (5-HTTLPR, rs25532, rs25531) in Iranian OCD patients considering gender, age of onset, family history of psychiatric disorders, obsessive and compulsive subtypes and severities. METHODS: The included OCD patients fulfilled the criteria for DSM-IV-TR whom Y-BOCS score was more than 9. Blood samples (184 cases and 192 controls) were genotyped by means of PCR-RFLP. RESULTS: Mean of Y-BOCS scores of included patients was 20.1 ± 0.69. Rs25532 CC genotype showed significant association with OCD in men and were detected more in the patients reported positive family history of psychiatric disorders but the other single loci (5-HTTLPR and rs25531) did not associate with OCD. Haplotype analysis showed significant association of 14-A variant with OCD and revealed the association of 14-A/14-A genotype with familial form of OCD. CONCLUSIONS: The findings of this study showed the association of SLC6A4 variants with familial form of OCD and proposed stratified analyses in the genetic studies facilitate identification of genetic risk factors for this heterogeneous disorder.

Helicobacter pylori in patients suffering from pulmonary disease.

BACKGROUND: Recently, research of indirect evidence suggested a possible association between Helicobacter pylori and pulmonary disease. This study aimed to determine if H. pylori could be detected in endobronchial specimens collected from patients undergoing bronchoscopy. MATERIALS AND METHODS: This prospective study was conducted on 34 consecutive patients with any type of lung disease undergoing bronchoscopy in which biopsy was required for their diagnosis. A written informed consent was obtained from all participants. Three bronchial mucosa biopsy samples were obtained using fenestrated biopsy forceps. One sample was used to determine urease activity, the second one for histopathological examination, and the third one for diagnosis. All subjects were fully informed regarding the gastroesophageal reflux disorder (GERD) Questionnaire. RESULTS: There were 34 patients with pulmonary diseases (12 males and 22 females, mean age 58.2±18.2 years) out of which, 11 (32.4%) had GERD. No significant difference was found between the histopathological assay and GERD. CONCLUSION: Our study found no direct evidence supporting the theory that H. pylori may cause pulmonary disease and no relation with GERD was detected. However, a possible indirect role could not be excluded. Further studies in patients with GERD and lung disease may reveal a potential pathogenic link between H. pylori and pulmonary disease.