Amin Shahrokhi1, Ameneh Zare-Shahabadi2, Samaneh Soltani3, Farin Soleimani4, Roshanak Vameghi4, Arian Rahimi Konjkav5, Parviz Karimi6, Pegah Katibeh6, Mohammad Vafaei6, Samaneh Zoghi3, Mahmoud Reza Ashrafi6, Nima Rezaei7. 1. Pediatric Neurorehabilitation Research Center, The University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 2. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Universal Scientific Education and Research Network (USERN), Tehran, Iran. 3. Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. 4. Pediatric Neurorehabilitation Research Center, The University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. 5. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 6. Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 7. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address: rezaei_nima@tums.ac.ir.
Abstract
PURPOSE: Febrile seizures (FS) are the most common convulsive event in children. Inflammatory elements and genetics seem to have major roles in their pathogenesis. METHODS: Seventy nine patients with FS were enrolled in this study and compared with 140 controls. Cytokine genotyping was performed, using polymerase chain reaction with sequence-specific primers. The allele and genotype frequency of three single nucleotide polymorphisms (SNPs) within the IL-10 gene at -1082, -819 and -592 positions (rs1800896, rs1800871, rs1800872), and two SNPs within the TGFB at codons 10 and 25 (rs1982037, rs1800471) were determined. RESULTS: No significant difference was detected in allelic frequency of IL-10 at -1082, -819 and -592 positions (rs1800896, rs1800871, rs1800872) and TGFB at codon 25 (rs1800471), between patients and controls. A significant negative association was observed at the codon 10/CT (rs1982037) in the patient group (OR, 0.5; 95%CI, 0.27-0.93; p=0.026). Further, a negative association was detected in patients with simple FS at same position (OR, 0.41; 95%CI, 0.18-0.93; p=0.03), thus revealing a protective effects in FS patients. There was no significant difference in allelic and genotype frequency between simple and complex FS samples. Furthermore, haplotype analysis revealed significant difference in frequency of TGFB/TC haplotype in comparison between complex FS patients and controls (p=0.048). CONCLUSION: Certain alleles, genotypes, and haplotypes in TGFB genes were over represented in patients with FS, which possibly could predispose individuals to this disease.
PURPOSE:Febrile seizures (FS) are the most common convulsive event in children. Inflammatory elements and genetics seem to have major roles in their pathogenesis. METHODS: Seventy nine patients with FS were enrolled in this study and compared with 140 controls. Cytokine genotyping was performed, using polymerase chain reaction with sequence-specific primers. The allele and genotype frequency of three single nucleotide polymorphisms (SNPs) within the IL-10 gene at -1082, -819 and -592 positions (rs1800896, rs1800871, rs1800872), and two SNPs within the TGFB at codons 10 and 25 (rs1982037, rs1800471) were determined. RESULTS: No significant difference was detected in allelic frequency of IL-10 at -1082, -819 and -592 positions (rs1800896, rs1800871, rs1800872) and TGFB at codon 25 (rs1800471), between patients and controls. A significant negative association was observed at the codon 10/CT (rs1982037) in the patient group (OR, 0.5; 95%CI, 0.27-0.93; p=0.026). Further, a negative association was detected in patients with simple FS at same position (OR, 0.41; 95%CI, 0.18-0.93; p=0.03), thus revealing a protective effects in FSpatients. There was no significant difference in allelic and genotype frequency between simple and complex FS samples. Furthermore, haplotype analysis revealed significant difference in frequency of TGFB/TC haplotype in comparison between complex FSpatients and controls (p=0.048). CONCLUSION: Certain alleles, genotypes, and haplotypes in TGFB genes were over represented in patients with FS, which possibly could predispose individuals to this disease.
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
Authors: Sara Hanaei; Sina Abdollahzade; Maryam Sadr; Mohammad Hossein Mirbolouk; Alireza Khoshnevisan; Nima Rezaei Journal: BMC Med Genet Date: 2018-04-10 Impact factor: 2.103