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  • Title: CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis.
    Author: Yousefipour G, Erfani N, Momtahan M, Moghaddasi H, Ghaderi A.
    Journal: Acta Neurol Scand; 2009 Dec; 120(6):424-9. PubMed ID: 19737153.
    Abstract:
    OBJECTIVE: The polymorphisms of exon 1 (+49 A/G) and promoter regions (-1722 T/C, -1661 A/G and -318 C/T)of cytotoxic T lymphocyte antigen 4 (CTLA4) and also haplotypes constructed from mentioned loci were investigated amongst 153 Iranian patients with definite multiple sclerosis (MS) and 190 healthy controls. METHODS: The polymorphisms were genotyped by PCR-restriction fragment length polymorphisms and PCR-amplification refractory mutation system. The 4-locus haplotypes were estimated by Arlequin software (University of Berne, Berne, Switzerland). RESULTS: Preliminary results showed significant increase of +49 G allele and -1661 AG genotype, as well as TGCA haplotype among patients than controls (P < 0.036, P = 0.009 and P < 0.010, respectively). The distribution of -1722 T/C, -1661 A/G, -318 C/T and +49 A/G (TACA) haplotype, from the contrary, was observed to be significantly increased among controls (P < 0.001). CONCLUSIONS: After Bonferroni correction, the results provide preliminary evidence that CTLA4 genetic variation at -1661 locus may render Iranian individuals to be more susceptible to MS, whereas harboring TACA haplotype might be protective.
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