Associations of CD6, TNFRSF1A and IRF8 polymorphisms with risk of inflammatory demyelinating diseases

作者：Park T J; Kim H J; Kim J H; Bae J S; Cheong H S; Park B L; Shin H D^*

来源：Neuropathology and Applied Neurobiology, 2013, 39(5): 519-530.

DOI：10.1111/j.1365-2990.2012.01304.x

• CD6
• inflammatory demyelinating disease (IDD)
• IRF8
• multiple sclerosis (MS)
• neuromyelitis optica (NMO)
• TNFRSF1A

AimsMultiple sclerosis (MS) and neuromyelitis optica (NMO) are inflammatory autoimmune diseases that affect the central nervous system. Several genome-wide and candidate gene studies have identified genetic polymorphisms associated with the risk of MS or NMO. In particular, two recently published studies of meta-analysis in European-origin populations have suggested associations of single-nucleotide polymorphisms (SNPs) in CD6, TNFRSF1A and IRF8 with MS. The aim of our study was to assess the associations between SNPs in these three genes and the risk of inflammatory demyelinating disease (IDD) including MS and NMO. To the best of our knowledge, this is the first time such a study has been performed in an Asian population. %26lt;br%26gt;MethodsA total of 21 SNPs of CD6, TNFRSF1A and IRF8 were genotyped in 178 IDD cases (79 MS and 99 NMO patients) and 237 normal controls in a Korean population. %26lt;br%26gt;ResultsLogistic analyses revealed that one SNP in CD6 (rs12288280, P=0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P=0.01-0.03) were associated with NMO. However, there was no association of IRF8 polymorphisms with IDD, including MS and NMO. Using further information from the SNP Function Prediction website, two exonic splicing enhancers (ESEs), including the polymorphic site of rs767455, were predicted to be binding sites for splicing factors (SRp55, SF2/ASF2 and SF2/ASF1). %26lt;br%26gt;ConclusionAlthough additional studies are needed, our findings could provide information regarding the genetic aetiology of IDD in the Korean population.

• 出版日期2013-8