Lack of Association between PRNP M129V Polymorphism and Multiple Sclerosis, Mild Cognitive Impairment, Alcoholism and Schizophrenia in a Korean Population. Issue 5 (30th May 2013)

• Record Type: Journal 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
• Is Part Of: Disease markers. Volume 28:Issue 5(2010)
• Page Start: 315
• Page End: 321
• Publication Date: 2013-05-30
• Subjects: Prion -- PRNP M129V -- multiple sclerosis -- mild cognitive impairment -- alcoholism -- schizophrenia; Diagnosis -- Periodicals; Biochemical markers -- Periodicals; Pathology -- Periodicals; 616
• DOI: 10.3233/DMA-2010-0711
• Languages: English
• ISSNs: 0278-0240

Abstract

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.