title: Study of polymorphisms in the interleukin-4 and IL-4 receptor genes in a population of Brazilian patients with multiple sclerosis.
abstract: 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.
authors.affiliation: Applied Genomics Research Group, School of Pharmacy, Queens University Belfast, Belfast, UK. tquirico@vm.uff.br
authors.forename: Thereza
authors.initials: T
authors.lastname: Quirico-Santos
authors.forename: Vijayaprakash
authors.initials: V
authors.lastname: Suppiah
authors.forename: Shirley
authors.initials: S
authors.lastname: Heggarty
authors.forename: Regina
authors.initials: R
authors.lastname: Caetano
authors.forename: Soniza
authors.initials: S
authors.lastname: Alves-Leon
authors.forename: Koen
authors.initials: K
authors.lastname: Vandenbroeck
mesh_terms: D000293:Adolescent; D000328:Adult; D044383:Black People; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015847:Interleukin-4 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D019948:Receptors, Interleukin-4 / Q000235:genetics*; D044465:White People
chemical_list: D019948:Receptors, Interleukin-4; D015847:Interleukin-4