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RARB and STMN2 polymorphisms are not associated with sporadic Creutzfeldt–Jakob disease (CJD) in the Korean population

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Abstract

Polymorphisms in the prion protein gene (PRNP) can affect the susceptibility of humans to prion diseases. Recently, aside from PRNP, single nucleotide polymorphisms (SNPs) of two candidate genes for susceptibility to human prion diseases have been identified by human genome-wide association studies (GWAS) in the British population. One SNP of retinoic acid receptor beta (RARB), which is correlated with prion disease incubation time in mice, was associated with human prion diseases such as variant and iatrogenic CJD in the British population. The other SNP of the gene that encodes SCG10 (STMN2), which is related to clinical onset of sporadic CJD, was also associated with variant CJD and kuru. In order to investigate whether two polymorphisms located in upstream of RARB and STMN2 are associated with sporadic CJD in the Korean population, we compared genotype and allele frequencies of these polymorphisms in 217 sporadic CJD patients and 216 healthy Koreans. The genotype distribution and allele frequencies in upstream of the RARB and STMN2 polymorphisms were not significantly different between healthy controls and Korean sporadic CJD patients. This finding indicates that the two SNPs are not correlated with genetic susceptibility to sporadic CJD in the Korean population. This is the first genetic association study of RARB and STMN2 with sporadic CJD in an Asian population.

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Acknowledgments

This research was supported by a grant of the Korea Healthcare technology R&D Project, Ministry of Health & Welfare, Republic of Korea (A085082) and Basic Science Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2012R1A1A2003686).

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Authors and Affiliations

  1. Ilsong Institute of Life Science, Hallym University, 1605-4 Gwanyang-dong Dongan-gu, Anyang, Gyeonggi-do, 431-060, Republic of Korea

    Byung-Hoon Jeong, Hae-Jung Kim & Yong-Sun Kim

  2. Korea Zoonosis Research Institute, Chonbuk National University, 567 Baekje-dero, Deokjin-gu, Jeonju, Jeollabuk-do, 561-756, Republic of Korea

    Byung-Hoon Jeong

  3. Samkwang Medical Laboratories, 9-60, Yangjae-dong, Seocho-gu, Seoul, 137-887, Republic of Korea

    Kyung-Hee Lee

  4. New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA

    Richard I. Carp

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  1. Byung-Hoon Jeong
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Jeong, BH., Kim, HJ., Lee, KH. et al. RARB and STMN2 polymorphisms are not associated with sporadic Creutzfeldt–Jakob disease (CJD) in the Korean population. Mol Biol Rep 41, 2389–2395 (2014). https://doi.org/10.1007/s11033-014-3093-x

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