title: An Association Between Functional Polymorphisms of the Interleukin 1 Gene Complex and Schizophrenia Using Transmission Disequilibrium Test.
abstract: IL1 gene complex has been implicated in the etiology of schizophrenia. To assess whether IL1 gene complex is associated with susceptibility to schizophrenia in Polish population we conducted family-based study. Functional polymorphisms from IL1A (rs1800587, rs17561, rs11677416), IL1B (rs1143634, rs1143643, rs16944, rs4848306, rs1143623, rs1143633, rs1143627) and IL1RN (rs419598, rs315952, rs9005, rs4251961) genes were genotyped in 143 trio with schizophrenia. Statistical analysis was performed using transmission disequilibrium test. We have found a trend toward an association of rs1143627, rs16944, rs1143623 in IL1B gene with the risk of schizophrenia. Our results show a protective effect of allele T of rs4251961 in IL1RN against schizophrenia. We also performed haplotype analysis of IL1 gene complex and found a trend toward an association with schizophrenia of GAGG haplotype (rs1143627, rs16944, rs1143623, rs4848306) in IL1B gene, haplotypes: TG (rs315952, rs9005) and TT (rs4251961, rs419598) in IL1RN. Haplotype CT (rs4251961, rs419598) in IL1RN was found to be associated with schizophrenia. After correction for multiple testing associations did not reach significance level. Our results might support theory that polymorphisms of interleukin 1 complex genes (rs1143627, rs16944, rs1143623, rs4848306 in IL1B gene and rs4251961, rs419598, rs315952, rs9005 in IL1RN gene) are involved in the pathogenesis of schizophrenia, however, none of the results reach significance level after correction for multiple testing.
authors.affiliation: Psychiatric Genetics Unit, Department of Psychiatry, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572, Poznan, Poland. kapelski@wp.pl.
authors.forename: Pawel
authors.identifier: http://orcid.org/0000-0002-7766-4986
authors.initials: P
authors.lastname: Kapelski
authors.affiliation: Psychiatric Genetics Unit, Department of Psychiatry, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572, Poznan, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Skibinska
authors.affiliation: Pharmacogenetics Research Clinic, Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, 250 College Street, Toronto, ON, M5T1R8, Canada.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Maciukiewicz
authors.affiliation: Psychiatric Genetics Unit, Department of Psychiatry, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572, Poznan, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Pawlak
authors.affiliation: Psychiatric Genetics Unit, Department of Psychiatry, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572, Poznan, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Dmitrzak-Weglarz
authors.affiliation: Laboratory of Molecular and Cell Biology, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572, Poznan, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Szczepankiewicz
authors.affiliation: Psychiatric Genetics Unit, Department of Psychiatry, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572, Poznan, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Zaremba
authors.affiliation: Psychiatric Genetics Unit, Department of Psychiatry, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572, Poznan, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Twarowska-Hauser
mesh_terms: D000328:Adult; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000235:genetics*; D053583:Interleukin-1beta / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics*; D055815:Young Adult
chemical_list: C508585:IL1B protein, human; C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D053583:Interleukin-1beta
keywords: Genetics; Interleukin 1 gene complex; Polymorphism; Schizophrenia; Transmission disequilibrium test