Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population

Article type: Research Article

Authors: Choi, Ihn-Geun | Woo, Sung-Il | Kim, Ho Jin | Kim, Dai-Jin | Park, Byung Lae | Cheong, Hyun Sub | Pasaje, Charisse Flerida A. | Park, Tae Joon | Bae, Joon Seol | Chai, Young Gyu | Shin, Hyoung Doo^;

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

Note: [] Corresponding author: Dr. Hyoung Doo Shin, Department of Life Science, Sogang University, 1 Shinsu-dong, Mapo-gu, Seoul 121-742, Korea, 121-742. Tel.: +82 2 705 8615; Fax: +82 2 2026 4299; E-mail: hdshin@sogang.ac.kr

Abstract: 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.

Keywords: Prion, PRNP M129V, multiple sclerosis, mild cognitive impairment, alcoholism, schizophrenia

DOI: 10.3233/DMA-2010-0711

Journal: Disease Markers, vol. 28, no. 5, pp. 315-321, 2010