ATA homozigosity in the <it>IL-10 </it>gene promoter is a risk factor for schizophrenia in Spanish females: a case control study
<p>Abstract</p> <p>Background</p> <p>Three <it>IL-10 </it>gene promoter single nucleotide polymorphisms <it>-1082G > A, -819C > T </it>and <it>-592C > A </it>and the haplotypes they define in Caucasians, <it>GCC, ACC, A...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-06-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/12/81 |
| _version_ | 1818901065582510080 |
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| author | Fernandez-Piqueras Jose Baca-García Enrique Fernandez-Navarro Pablo Lopez-Rodriguez Rosario Dorado Pedro Lopez-Castroman Jorge Riveiro-Alvarez Rosa Almoguera Berta Dal-Ré Rafael Abad-Santos Francisco LLerena Adrián Ayuso Carmen |
| author_facet | Fernandez-Piqueras Jose Baca-García Enrique Fernandez-Navarro Pablo Lopez-Rodriguez Rosario Dorado Pedro Lopez-Castroman Jorge Riveiro-Alvarez Rosa Almoguera Berta Dal-Ré Rafael Abad-Santos Francisco LLerena Adrián Ayuso Carmen |
| author_sort | Fernandez-Piqueras Jose |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Three <it>IL-10 </it>gene promoter single nucleotide polymorphisms <it>-1082G > A, -819C > T </it>and <it>-592C > A </it>and the haplotypes they define in Caucasians, <it>GCC, ACC, ATA</it>, 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 <it>IL-10 </it>gene promoter SNPs and haplotypes with schizophrenia and the possible sex-specific genetic effect in a Spanish schizophrenic population.</p> <p>Methods</p> <p>241 DSM-IV diagnosed Spanish schizophrenic patients and 435 ethnically matched controls were genotyped for <it>-1082G > A </it>and <it>-592C > A </it>SNPs. Chi squared tests were performed to assess for genetic association of alleles, genotypes and haplotypes with the disease.</p> <p>Results</p> <p>The <it>-1082A </it>allele (p = 0.027), <it>A/A </it>(p = 0.008) and <it>ATA/ATA </it>(p = 0.003) genotypes were significantly associated with schizophrenia in females while neither allelic nor genotypic frequencies reached statistical significance in the male population.</p> <p>Conclusions</p> <p>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.</p> |
| first_indexed | 2024-12-19T20:13:50Z |
| format | Article |
| id | doaj.art-83e88235e63249faadb8bb05c09450a9 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-19T20:13:50Z |
| publishDate | 2011-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-83e88235e63249faadb8bb05c09450a92022-12-21T20:07:14ZengBMCBMC Medical Genetics1471-23502011-06-011218110.1186/1471-2350-12-81ATA homozigosity in the <it>IL-10 </it>gene promoter is a risk factor for schizophrenia in Spanish females: a case control studyFernandez-Piqueras JoseBaca-García EnriqueFernandez-Navarro PabloLopez-Rodriguez RosarioDorado PedroLopez-Castroman JorgeRiveiro-Alvarez RosaAlmoguera BertaDal-Ré RafaelAbad-Santos FranciscoLLerena AdriánAyuso Carmen<p>Abstract</p> <p>Background</p> <p>Three <it>IL-10 </it>gene promoter single nucleotide polymorphisms <it>-1082G > A, -819C > T </it>and <it>-592C > A </it>and the haplotypes they define in Caucasians, <it>GCC, ACC, ATA</it>, 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 <it>IL-10 </it>gene promoter SNPs and haplotypes with schizophrenia and the possible sex-specific genetic effect in a Spanish schizophrenic population.</p> <p>Methods</p> <p>241 DSM-IV diagnosed Spanish schizophrenic patients and 435 ethnically matched controls were genotyped for <it>-1082G > A </it>and <it>-592C > A </it>SNPs. Chi squared tests were performed to assess for genetic association of alleles, genotypes and haplotypes with the disease.</p> <p>Results</p> <p>The <it>-1082A </it>allele (p = 0.027), <it>A/A </it>(p = 0.008) and <it>ATA/ATA </it>(p = 0.003) genotypes were significantly associated with schizophrenia in females while neither allelic nor genotypic frequencies reached statistical significance in the male population.</p> <p>Conclusions</p> <p>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.</p>http://www.biomedcentral.com/1471-2350/12/81 |
| spellingShingle | Fernandez-Piqueras Jose Baca-García Enrique Fernandez-Navarro Pablo Lopez-Rodriguez Rosario Dorado Pedro Lopez-Castroman Jorge Riveiro-Alvarez Rosa Almoguera Berta Dal-Ré Rafael Abad-Santos Francisco LLerena Adrián Ayuso Carmen ATA homozigosity in the <it>IL-10 </it>gene promoter is a risk factor for schizophrenia in Spanish females: a case control study BMC Medical Genetics |
| title | ATA homozigosity in the <it>IL-10 </it>gene promoter is a risk factor for schizophrenia in Spanish females: a case control study |
| title_full | ATA homozigosity in the <it>IL-10 </it>gene promoter is a risk factor for schizophrenia in Spanish females: a case control study |
| title_fullStr | ATA homozigosity in the <it>IL-10 </it>gene promoter is a risk factor for schizophrenia in Spanish females: a case control study |
| title_full_unstemmed | ATA homozigosity in the <it>IL-10 </it>gene promoter is a risk factor for schizophrenia in Spanish females: a case control study |
| title_short | ATA homozigosity in the <it>IL-10 </it>gene promoter is a risk factor for schizophrenia in Spanish females: a case control study |
| title_sort | ata homozigosity in the it il 10 it gene promoter is a risk factor for schizophrenia in spanish females a case control study |
| url | http://www.biomedcentral.com/1471-2350/12/81 |
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