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Disease Markers
Volume 28, Issue 5, Pages 315-321

Lack of Association between PRNP M129V Polymorphism and Multiple Sclerosis, Mild Cognitive Impairment, Alcoholism and Schizophrenia in a Korean Population

Ihn-Geun Choi,1 Sung-Il Woo,2 Ho Jin Kim,3 Dai-Jin Kim,4 Byung Lae Park,5 Hyun Sub Cheong,5 Charisse Flerida A. Pasaje,6 Tae Joon Park,6 Joon Seol Bae,6 Young Gyu Chai,7 and Hyoung Doo Shin5,6

1Department of Neuropsychiatry, Hallym University, Han-Gang Sacred Heart Hospital, Seoul, Korea
2Department of Neuropsychiatry, Soonchunhyang University Hospital, Seoul, Korea
3Department of Neurology, National Cancer Center, Gyeonggi-do, Korea
4Department of Psychiatry, Holy Family Hospital, College of Medicine, Catholic University of Korea, Korea
5Department of Genetic Epidemiology, SNP Genetics, Inc., WooLim Lion's Valley, Seoul, Korea
6Department of Life Science, Sogang University, Seoul, Korea
7Division of Molecular and Life Sciences, Hanyong University, Ansan, Korea

Received 25 June 2010; Accepted 25 June 2010

Copyright © 2010 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases. In this study, we examined the possible genetic association of PRNP*129Val with multiple sclerosis (MS, n = 681), mild cognitive impairment (MCI, n = 801), alcoholism (n = 761) and schizophrenia (n = 715) in a Korean population, and compared the data with previous genetic association studies of the variant. The minor allele frequency of PRNP*129Val (MAF = 0.025) was significantly lower in Korean population (n = 2,479) compared to Caucasian populations (P < 0.0001), suggestive of a weak influence of the variant in the previous population. Statistical analysis revealed no significant association between PRNP*129Val and MS (P = 0.76), MCI (P = 0.46), alcoholism (P = 0.84) and schizophrenia (P = 0.69). These findings were discussed in the context of prior inconsistent reports on the role of PRNP*129Val polymorphism in several diseases. Results from this study may provide further evidence that PRNP M129V is not a genetic susceptibility factor for MS, MCI, alcoholism and schizophrenia in a Korean population.