Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD

Combarros, Onofre; Sánchez-Guerra, Marisa; Llorca, Javier; Alvarez-Arcaya, A.; Berciano, José; Peña, Nicolás; Fernández-Viadero, Carlos

doi:10.1212/wnl.55.4.593

Cited by 58 publications

(44 citation statements)

References 8 publications

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“…In opposition to some studies, which showed interaction between ApoE and PRNP, our data did not reveal differences in codon 129 genotypes according to the ApoE status [13][14][15][16][17][18][19][20][21] . This study of PRNP in patients with AD in the Brazilian population has, as its main limitation, the small sample.…”

Section: Discussioncontrasting

confidence: 99%

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Codon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease

Smid¹,

Landemberger

Bahia³

et al. 2013

Arq. Neuro-Psiquiatr.

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Interaction of prion protein and amyloid-b oligomers has been demonstrated recently. Homozygosity at prion protein gene (PRNP) codon 129 is associated with higher risk for Creutzfeldt-Jakob disease. This polymorphism has been addressed as a possible risk factor in Alzheimer disease (AD).ObjectiveTo describe the association between codon 129 polymorphisms and AD.MethodsWe investigated the association of codon 129 polymorphism of PRNP in 99 AD patients and 111 controls, and the association between this polymorphism and cognitive performance. Other polymorphisms of PRNP and additive effect of apolipoprotein E gene (ApoE) were evaluated.ResultsCodon 129 genotype distribution in AD 45.5% methionine (MM), 42.2% methionine valine (MV), 12.1% valine (VV); and 39.6% MM, 50.5% MV, 9.9% VV among controls (p>0.05). There were no differences of cognitive performance concerning codon 129. Stratification according to ApoE genotype did not reveal difference between groups.ConclusionCodon 129 polymorphism is not a risk factor for AD in Brazilian patients.

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Section: Discussioncontrasting

confidence: 99%

“…A few studies have shown that this polymorphism may be a risk factor for AD [12][13][14] . Others, however, failed to confirm such association 5,8,[15][16][17][18][19][20][21] . A meta-analysis concluded that codon 129 homozygosity of PRNP is a risk factor for AD in a Caucasian population 19 .…”

mentioning

confidence: 99%

Codon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease

Smid¹,

Landemberger

Bahia³

et al. 2013

Arq. Neuro-Psiquiatr.

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“…Similarly, findings on the influence of PRNP*129Val in the risk of AD, another neurodegenerative disorder, have been well defined despite ethnic background discrepancies. Previous studies have reported that this variant is significantly associated with AD in Dutch [13], German [14], and Polish populations [15], in contrast to the findings from studies involving Korean [16], Spanish [17], and Italian [18] populations. Furthermore, it has been known that homozygosity for codon 129 (M or V allele) is connected with early-onset AD [13,17].…”

Section: Introductioncontrasting

confidence: 64%

Lack of Association betweenPRNPM129V Polymorphism and Multiple Sclerosis, Mild Cognitive Impairment, Alcoholism and Schizophrenia in a Korean Population

et al. 2010

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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.

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“…Thus, our study contrasted with the results obtained from the German and Polish populations but is consistent with that obtained from Japanese that showed no association of the M129V polymorphism with AD regardless of the age at onset or ApoE-4 genotypes. Also, no significant difference was observed in Spanish population and in Italian population (Combarros et al, 2000;Del Bo et al, 2005). With regard to such discrepancy among ethnic groups, meta-analysis of six published reports showed that Caucasian subjects homozygous at codon 129 had a moderate but significant risk [OR = 1.3, 95%, CI: 1.0-1.6, P = 0.05] of developing AD compared to heterozygous individuals (Del Bo et al, 2005).…”

Section: Discussionmentioning

confidence: 93%

“…Also, in Polish population, the MM and VV genotypes were higher in AD patients (Golanska et al, 2004). On the other hand, a study with Spanish sporadic AD patients showed no association between the homozygosity and AD even after stratifying by ApoE genotype, age at onset, and gender (Combarros et al, 2000). The two polymorphisms, M129V and E219K, were not associated with AD (Ohkubo et al, 2003) in Japanese population.…”

Section: Introductionmentioning

confidence: 88%

No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population

Ahn

Kim²,

Kwon³

et al. 2006

Exp Mol Med

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The polymorphism at codon 129 (M129V) of the human prion protein gene (PRNP) is a known risk factor for Creutzfeldt-Jakob disease (CJD) in Caucasians. There are few reports of this polymorphism's effect on memory and on the risk of Alzheimer's disease (AD). The M129V genotype distributions among Asians are very different from Caucasians. Another polymorphism, codon 219 (E219K) is not found in Caucasians. We investigated two polymorphisms of PRNP, M129V (rs1799990) and E219K (rs1800014) in 297 Korean AD patients and 217 healthy subjects. The analysis of the genotype and allele distributions showed no significant difference between the AD patients and the controls in both polymorphisms (P = 0.19 genotype, P = 0.51 allele for M129V; P = 0.64 genotype, P = 0.50 allele for E219K). Also, the PRNP polym orphism s w ere not significantly associated with AD when the populations were stratified for the presence or absence of apolipoprotein E-ε4 (ApoE-ε4) allele. These results suggest that the PRNP genetic variants are not associated with the risk for AD in Korean population.

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Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD

Cited by 58 publications

References 8 publications

Codon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease

Codon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease

Lack of Association betweenPRNPM129V Polymorphism and Multiple Sclerosis, Mild Cognitive Impairment, Alcoholism and Schizophrenia in a Korean Population

No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population

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