%0 Journal Article
%T ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study
%A Berta Almoguera
%A Rosa Riveiro-Alvarez
%A Jorge Lopez-Castroman
%A Pedro Dorado
%A Rosario Lopez-Rodriguez
%A Pablo Fernandez-Navarro
%A Enrique Baca-Garc¨ªa
%A Jose Fernandez-Piqueras
%A Rafael Dal-R¨¦
%A Francisco Abad-Santos
%A Adri¨¢n LLerena
%A Carmen Ayuso
%A Spanish Consortium of Pharmacogenetics Research in Schizophrenia
%J BMC Medical Genetics
%D 2011
%I BioMed Central
%R 10.1186/1471-2350-12-81
%X 241 DSM-IV diagnosed Spanish schizophrenic patients and 435 ethnically matched controls were genotyped for -1082G > A and -592C > A SNPs. Chi squared tests were performed to assess for genetic association of alleles, genotypes and haplotypes with the disease.The -1082A allele (p = 0.027), A/A (p = 0.008) and ATA/ATA (p = 0.003) genotypes were significantly associated with schizophrenia in females while neither allelic nor genotypic frequencies reached statistical significance in the male population.Our results highlight the hypothesis of an imbalance towards an inflammatory syndrome as the immune abnormality of schizophrenia. Anyway, a better understanding of the involvement of the immune system would imply the search of immune abnormalities in endophenotypes in whose sex and ethnicity might be differential factors. It also reinforces the need of performing complex gene studies based on multiple cytokine SNPs, including anti and pro-inflammatory, to clarify the immune system abnormalities direction in the etiology of schizophrenia.There is consistent evidence pointing the immune system as playing an important role in both etiology and pathophysiology of schizophrenia [1,2]. A key element of this immune theory is the significant increase in the levels of some Th1 (T helper cell type 1) cytokines such as IL-1, IL-6 or TNF (tumor necrosis factor) in plasma, or even cerebrospinal fluid, found in schizophrenic patients, and abnormal levels of Th2 (T helper cell type 2) cytokines such as IL-10 [3] . It is well documented that some cytokines production is regulated at the transcriptional level, which may indicate that the immune alterations in schizophrenia could have a genetic origin [4].This occurs with IL-10 in which three gene promoter single nucleotide polymorphisms (SNPs), -1082G > A, -819C > T and -592C > A, define three haplotypes in Caucasians, GCC, ACC, ATA, associated to different IL-10 production rates [5]. Both IL-10 SNPs and haplotypes have been reported to b
%U http://www.biomedcentral.com/1471-2350/12/81