Study of polymorphisms in the interleukin-4 and IL-4 receptor genes in a population of Brazilian patients with multiple sclerosis

Arquivos de Neuro-Psiquiatria

Thereza Quirico-santos²  Vijayaprakash Suppiah²  Shirley Heggarty²  Regina Caetano¹  Soniza Alves-leon¹  Koen Vandenbroeck² 

[1] ,Queen’s University Belfast School of Pharmacy Applied Genomics Research GroupBelfast,UK

关键词: multiple sclerosis;    interleukin-4;    IL-4 receptor;    single nucleotide polymorphism;    ethnicity;    esclerose múltipla;    interleucina-4;    receptor IL-4R;    polimorfismo (SNP);    etnia;   

DOI  :  10.1590/S0004-282X2007000100005

来源: SciELO

【 摘 要 】

This study aimed to investigate in a population of Brazilian patients with multiple sclerosis (MS) single-nucleotide polymorphisms (SNP) in the promoter region of IL4 (*33C-T) and receptor IL4R (*Q551R A-G) genes proposed to interfere with disease progression. No significant differences were observed in either of the SNPs investigated between healthy controls (n=135) and MS patients (n=129). However, the IL4+33 TT genotype was significantly (p=0.039) higher in African descendants MS (AF-MS= 9.09%) than in Caucasian MS (CA-MS= 1.35%). It was also observed a significant (p=0.016) increase for the IL4R* Q551R CC genotype in AF-MS compared to those of Caucasian ethnicity (AF-MS= 21.62%; CA-MS= 4.35%). These results suggest that IL4+33 and IL4R*Q551 polymorphisms may have a disease-promoting role of TH2 mediators in African MS descendants. Additionally neither IL4 nor IL4R genes are susceptibility factors for Brazilian MS but may be able to modify ethnicity-dependent disease risk and penetrance of susceptibility factors.

【 授权许可】

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