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KIF1B polymorphisms associated with the risk of inflammatory demyelinating disease in Korean population

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Abstract

In the present study, we explored the possible association between KIF1B polymorphisms and inflammatory demyelinating disease (IDD) susceptibility. Eleven single nucleotide polymorphisms (SNPs) were selected for the present study based on the literature, as well as linkage disequilibrium, minor allele frequency, and location. The SNPs were genotyped in 178 IDD subjects consisting of 99 neuromyelitis optica subjects, 79 multiple sclerosis subjects, and 237 healthy controls (Total N = 415). We next preformed logistic analysis to validate associations between the KIF1B polymorphisms and the risk of IDD. Statistical analyses revealed that rs17396382 and ht4 were significantly associated with IDD susceptibility with odds ratios of 2.22 and 2.17 (P = 0.001 and 0.004; P corr = 0.01 and 0.03, respectively). In addition, although P values for six variants (rs3748576, rs7520935, rs2275424, rs11576866, rs17411502, and rs11121552) and one haplotype (ht1) did not reach the threshold of significance after correction for multiple testing, the SNPs showed a nominal association in primary analysis (P = 0.02 ~ 0.04). Our results suggest that rs17396382 and ht4 might be involved in IDD pathogenesis.

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Acknowledgments

This work was supported by Korea Science and Engineering Foundation (KOSEF) funded by the Korea government (MEST) (NRF-2010-0011206). The biospecimens for this study were provided by National Biobank of Korea (KOBB-2010-19). This work was supported by Korea Science and Engineering Foundation (KOSEF) funded by the Korea government (MEST) (No. 2009-0080157).

Conflict of interest

The authors have no conflict of interest.

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Authors and Affiliations

  1. Research Institute for Basic Science, Sogang University, Seoul, 121-742, Republic of Korea

    Jin Sol Lee & Jeong-Hyun Kim

  2. Department of Life Science, Sogang University, Seoul, 121-742, Republic of Korea

    Jin Sol Lee, Jason Yongha Kim & Hyoung Doo Shin

  3. Laboratory of Translational Genomics, Samsung Medical Center, Samsung Genome Institute, 81 Irwon-Ro, Gangnam-Gu, Seoul, 135-710, Republic of Korea

    Joon Seol Bae

  4. Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul, Republic of Korea

    Byung Lae Park, Hyun Sub Cheong & Hyoung Doo Shin

  5. Department of Neurology, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang, 410-769, Gyeonggi-do, Republic of Korea

    Ho Jin Kim

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  1. Jin Sol Lee
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Correspondence to Ho Jin Kim or Hyoung Doo Shin.

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Jin Sol Lee and Joon Seol Bae have contributed equally to this work and are joint first authors.

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Lee, J.S., Bae, J.S., Park, B.L. et al. KIF1B polymorphisms associated with the risk of inflammatory demyelinating disease in Korean population. Genes Genom 36, 559–564 (2014). https://doi.org/10.1007/s13258-014-0191-z

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  • DOI: https://doi.org/10.1007/s13258-014-0191-z

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