Association of CD58 polymorphism and multiple sclerosis in Malaysia: a pilot study

Abstract

Background: Multiple sclerosis is an immune mediated disease targeting the central nervous system. Association of non-human leukocyte antigen gene, CD58, with multiple sclerosis has been reported in several populations but is unclear among Southeast Asians. This pilot study was conducted to explore the association between CD58 polymorphism and multiple sclerosis among the Malay population in Malaysia.Methods: Blood samples were collected from 27 multiple sclerosis patients, and compared with 58 age-and gender matched healthy individuals. All patients were tested negative for anti-aquaporin 4. DNA was extracted from the blood and genotyped for 3 single nucleotide polymorphisms rs12044852, rs2300747 and rs1335532 of gene CD58 by real-time PCR.Results: The majority of multiple sclerosis patients were female (85.2%). The general mean age of onset was 30.5 years. Genotyping results showed that frequencies of the alleles were between 40 and 50% for MS patients and healthy individuals. Association (allelic model) between multiple sclerosis and CD58 gene polymorphism alleles rs12044852 (p = 0.410), rs2300747 (p = 0.881) and rs1335532 (p = 0.407) were indistinct. Conclusions:The impact of the CD58 gene polymorphism was not prominent in this pilot study, implying that genetic composition contributing to multiple sclerosis may be different between different populations, thus results in a heterogeneity of disease manifestation and distribution.

Non-HLA Genes and Multiple Sclerosis

“…However, this genetic variant association with MS was not consistent among other studies [19,20]. On the other hand, a second genetic variant rs12044852 was shown to be correlated with MS in Australians and Russians [18,21] but not in Malay and Iranian [19,22] populations where the CC genotype was strongly associated with multiple sclerosis severity score (MSSS), indicating by this a negative effect of this SNP in response to interferon-beta (IFN-β) therapy [22].…”

“…The most studied genetic variant is rs2300747, where inconclusive data were shown; an association was maintained in different studies [16 -18] and supported by the fact that MS patients carrying the G protective allele presented higher CD58 mRNA expression level during clinical remission [17]. However, this genetic variant association with MS was not consistent among other studies [19,20]. On the other hand, a second genetic variant rs12044852 was shown to be correlated with MS in Australians and Russians [18,21] but not in Malay and Iranian [19,22] populations where the CC genotype was strongly associated with multiple sclerosis severity score (MSSS), indicating by this a negative effect of this SNP in response to interferon-beta (IFN-β) therapy [22].…”