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CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis

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Abstract:

Yousefipour G, Erfani N, Momtahan M, Moghaddasi H, Ghaderi A. CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis.

Acta Neurol Scand 2009: 120: 424–429.

© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. 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.

Keywords: cytotoxic T lymphocyte antigen 4; exon 1; haplotype; multiple sclerosis; polymorphism; −1661 A/G

Document Type: Research Article

DOI: http://dx.doi.org/10.1111/j.1600-0404.2009.01177.x

Affiliations: 1: Department of Neurology, Shiraz University of Medical Sciences, Shiraz, Iran 2: Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences, Shiraz, Iran

Publication date: December 1, 2009

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