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

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),...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Disease markers 2010-01, Vol.28 (5), p.315-321
Hauptverfasser: 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
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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.
ISSN:0278-0240
1875-8630
DOI:10.3233/DMA-2010-0711