原创力文档ata homozigosity in the il-10 gene promoter is a risk factor for schizophrenia in spanish females a case control studyata homozigosity il - 10基因启动子在西班牙女性精神分裂症的危险因素病例对照研究.pdfVIP
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ata homozigosity in the il-10 gene promoter is a risk factor for schizophrenia in spanish females a case control studyata homozigosity il - 10基因启动子在西班牙女性精神分裂症的危险因素病例对照研究
Almoguera et al. BMC Medical Genetics 2011, 12:81
/1471-2350/12/81
RESEARCH ARTICLE Open Access
ATA homozigosity in the IL-10 gene promoter is
a risk factor for schizophrenia in Spanish females:
a case control study
1,2 1,2 3 4,5 6,7
Berta Almoguera , Rosa Riveiro-Alvarez , Jorge Lopez-Castroman , Pedro Dorado , Rosario Lopez-Rodriguez ,
Pablo Fernandez-Navarro8,9, Enrique Baca-García3,10, Jose Fernandez-Piqueras2,11, Rafael Dal-Ré12,
Francisco Abad-Santos6,7, Adrián LLerena4,5 and Carmen Ayuso1,2* for
Spanish Consortium of Pharmacogenetics Research in Schizophrenia
Abstract
Background: Three IL-10 gene promoter single nucleotide polymorphisms -1082G A, -819C T and -592C A
and the haplotypes they define in Caucasians, GCC, ACC, ATA, associated with different IL-10 production rates, have
been linked to schizophrenia in some populations with conflicting results. On the basis of the evidence of the sex-
dependent effect of certain genes in many complex diseases, we conducted a sex-stratified case-control
association study to verify the linkage of the IL-10 gene promoter SNPs and haplotypes with schizophrenia and the
possible sex-specific genetic effect in a Spanish schizophrenic population.
Methods: 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.
Results: 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 frequencie
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