Genetics Research
rs3131713
Population Frequencies12
African
G 0.23346A 0.76654GG 0.05279GA/AG 0.361348AA 0.585862pop=28,604
African American
G 0.23233A 0.76767GG 0.052351GA/AG 0.359959AA 0.58769pop=27,392
African Others
G 0.2591A 0.7409GG 0.062706GA/AG 0.392739AA 0.544554pop=1,212
Asian
G 0.2429A 0.7571GG 0.060757GA/AG 0.36421AA 0.575033pop=6,024
East Asian
G 0.2377A 0.7623GG 0.05833GA/AG 0.358769AA 0.582901pop=5,006
European
G 0.122025A 0.877975GG 0.015752GA/AG 0.212546AA 0.771702pop=239,844
Latin American 1
G 0.1618A 0.8382GG 0.02521GA/AG 0.273109AA 0.701681pop=1,904
Latin American 2
G 0.1755A 0.8245GG 0.031669GA/AG 0.287708AA 0.680623pop=3,726
Other
G 0.14211A 0.85789GG 0.02195GA/AG 0.240326AA 0.737723pop=14,214
Other Asian
G 0.2682A 0.7318GG 0.072692GA/AG 0.390963AA 0.536346pop=1,018
South Asian
G 0.115A 0.885GG 0.019608GA/AG 0.191176AA 0.789216pop=408
Studies13
Unread Studies13 ▼
1
Parkinson’s disease (PD) is a progressive neurodegenerative disorder. The disease involves a combination of genetic and environmental factors, although its exact cause …
2
We assembled a cohort of 109 Nigerian patients with PD from the four main Nigerian tribes: Yoruba, Igbo, Edo, and Hausa. Fifteen cases [14 from the Yoruba tribe (93.3%)] …
3
La Tunisie a vu une grande variete d'envahisseurs et de migrants allant de la population berbere autochtone aux Arabes et Europeens. Cette region est caracterisee par les grands pedigrees, les faibles taux de migration et les taux eleves de consanguinite qui augmentent le risque des maladies autosomiques recessives y compris les maladies neuro-degeneratives. Dans notre pays, la prevalence de la maladie de Parkinson (MP) augmente jusqu’a 43/100000 personnes et devient un probleme de sante majeur. La MP est une maladie neuro-degenerative dont la forme idiopathique debute en moyenne vers 60 ans. Au cours des 20 dernieres annees, plusieurs genes ont ete identifies chez des patients qui ont developpe leurs premiers symptomes avant l’âge de 40 ans. Notre etude a montre que la structure genetique de la MP en Tunisie est distincte des autres populations, puisque plus de 50% des cas avaient une origine genetique. La frequence des formes monogeniques chez les patients avec un âge de debut tardif de la MP etait relativement elevee et similaire a celle des patients avec un âge de debut precoce. Ces formes etaient essentiellement dues a la mutation LRRK2-p.G2019S (identifiee chez 44.4% des cas) qui s'avere etre une mutation fondatrice apparue chez un seul ancetre commun d’origine berbere. Sur le plan clinique, nous avons montre que les patients porteurs de la mutation LRRK2-p.G2019S avaient un âge de debut de la MP plus precoce mais avec un phenotype plus benin que celui des formes idiopathiques. Une deuxieme mutation fondatrice d’origine berbere (p.Q456*) a ete identifiee sur le gene PINK1. La frequence elevee inhabituelle des mutations sur ce gene peut etre limitee a la population tunisienne berbere. Nos resultats ont aussi confirme que les mutations sur le gene PARK2 et sur le gene GBA ne constituent pas un facteur de risque frequent de la MP en Tunisie. En plus de ces mutations sur les genes connus, nous avons identifie 4 nouveaux genes candidats dans la MP. Cette structure genetique particuliere de la MP en Tunisie pourrait etre principalement le resultat de l'origine historique berbere de notre population Tunisienne.
4
Deletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early‐onset Parkinson’s disease (EOPD). To date, all patients reported with 22q11.2 deletions and …
5
La enfermedad de Parkinson (EP) es una enfermedad neurodegenerativa progresiva, multifactorial e incurable que ocupa el segundo lugar en frecuencia después de la enfermedad …
6
Deregulation of apoptosis is a frequent alteration in benign, pre-‐cancerous lesions of the colon mucosa that has been extensively discussed as contributor to the development of …
7
Mutations in the PINK1 gene represent the second most frequent cause of early-onset Parkinson’s disease (EOPD). One or two mutated alleles were also reported in some sporadic or …
8
Mutations in PINK1 have been identified in familial and sporadic cases of early onset Parkinson's disease (PD). To determine the contribution of PINK1 variants in Indian PD patients, …
9
A series of 69 Han Chinese PD patients (including 66 index cases and 3 relatives) with early-onset Parkinson's disease (EOPD) were studied to assess the frequency of parkin and …
10
The purpose of this study was to characterize associations between PINK1 genotypes, PINK1 transcript levels, and metabolic phenotypes in healthy adults and those with type 2 …
11
This study aims to valorize sweet potato leaves (Ipomoea batatas), an underutilized agricultural byproduct in Mexico, by extracting chlorogenic acids and evaluating their antioxidant potential for the development of a functional snack. The research seeks to transform a traditional food source ("quelite") into a value-added nutraceutical ingredient.
12
Mutations in the PTEN-induced kinase (PINK1) gene located within thePARK6locus on chromosome 1p35-p36 have recently been identified in patients with recessive early…
13
To determine the frequency of mutations in PINK1 in Chinese Han people with sporadic early-onset Parkinsonism (EOP).
Curated Studies0 ▼
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Unused Studies0 ▼
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