Genetics Research
rs4998386
Gene: GRIN2A — Glutamate Ionotropic Receptor NMDA Type Subunit 2A
Chr 16:9976688
16p13.2
Intron Variant
Population Frequencies11
African
C 0.82592T 0.17408CC 0.681537CT/TC 0.288772TT 0.029691pop=13,270
African American
C 0.82686T 0.17314CC 0.683037CT/TC 0.287652TT 0.029311pop=12,828
African Others
C 0.799T 0.201CC 0.638009CT/TC 0.321267TT 0.040724pop=442
Asian
C 0.998T 0.002CC 0.996109CT/TC 0.003891TT 0pop=514
East Asian
C 0.998T 0.002CC 0.995146CT/TC 0.004854TT 0pop=412
European
C 0.90041T 0.09959CC 0.810571CT/TC 0.179681TT 0.009749pop=65,238
Latin American 1
C 0.8982T 0.1018CC 0.805138CT/TC 0.18609TT 0.008772pop=3,192
Latin American 2
C 0.9627T 0.0373CC 0.926697CT/TC 0.07195TT 0.001352pop=7,394
Other
C 0.9091T 0.0909CC 0.827359CT/TC 0.163433TT 0.009207pop=6,082
South Asian
C 0.985T 0.015CC 0.969072CT/TC 0.030928TT 0pop=194
Studies56
Unread Studies56 ▼
1
This review illustrates how environmental stressors disrupt glutamate homeostasis via specific mechanisms: lead-induced thiol modification, manganese mediated yin yang 1 (YY1)-…
2
This chapter introduces environmental and lifestyle factors that influence the risk of developing Parkinson’s disease (PD) as well as the age at onset (AAO) in patients with PD. It …
3
Few pharmacologically active substances have been consumed by humanity for so long, by so many people, and with such intensity as caffeine. 1 Despite its widespread use, the …
4
Sex and genetic differences influence the epidemiology of Parkinson’s disease (PD). However, their impact on the homeostasis of N-methyl-D-aspartate receptor (NMDAR)-related …
5
… According to two studies, the relationship between caffeine and the risk of PD is significantly influenced by the T-allele of the GRIN2A single nucleotide polymorphism (SNP) rs4998386 […
6
This review article aims to provide a comprehensive overview on Parkinson's disease genetics. MAPT, which encodes the microtubule associated protein tau, TMEM230, LRP10, NUS1 …
7
… Here, the rs4998386 mutation in GRIN2A was identified as a top hit. The GRIN2A encodes the NMDA-glutamate receptor subunit which is involved in excitatory transmission and was …
8
… Individuals with the CC genotype (GRIN2A rs4998386) who were heavy caffeine drinkers … Moreover, individuals with the TC genotype (GRIN2A rs4998386) who were heavy caffeine …
9
… The team also found joint effects of GRIN2A_ rs4998386 genotypes and caffeine intake. Heavy caffeine intake with CC genotype reduced PD risk by 47%, while having …
10
Neurodegenerative diseases affect millions of people globally and are characterized by their poor prognosis and decreased quality of life. In the quest to shed light on the development …
11
Neurodegenerative diseases are one of the biggest health burdens worldwide; they affect millions of people and often have poor prognosis and decreased quality of life (Mayeux 2003). …
12
… In a GWAS on coffee consumption, the most significant signal for PD was found on rs4998386 in the glutamate receptor gene GRIN2A, which regulates excitatory neurotransmission in …
13
Disease modifying therapies compromise immune response to SARS-Cov2 or its vaccine in patients with immune system diseases (ISD). Therefore, analysis of the humoral and cellular …
14
Apnoea of prematurity (AOP) is among the most common diagnoses in the neonatal intensive care unit. Caffeine treatment is a preferred treatment choice. However, …
15
Less than a quarter century after the discovery of SNCA as the first attributable gene in Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease has …
16
… risk of PD [61]; (ii) a stronger coffee-PD association and slow metabolizers of caffeine with homozygous carriers of the CYP1A2 polymorphisms [1]; and (iii) polymorphism rs4998386 …
17
… Association and Interaction Study (GWAIS) tested each SNP's main effect and its interaction with coffee drinking, adjusting for sex and age, and detected as significant the rs4998386 …
18
… The first genome-wide interaction analysis reported for this sample cohort highlighted a potential genome-wide significant interaction of coffee consumption and SNP rs4998386 in …
19
… Carriers of GRIN2A rs4998386-T allele had a lower risk of PD, than carriers of rs4998386-CC genotype among heavy coffee drinkers [106]. There is evidence that creatine is able to …
20
… an interaction between rs4998386 … rs4998386 SNP and PD, we extracted relevant data from these studies to perform a meta-analysis exploring the relationship between the rs4998386 …
21
… subunit of the NMDA-glutamate-receptor, found that carriers of theGRIN2A_rs4998386T allele had a lower risk for PD than carriers of the rs4998386-CC genotype among heavy coffee …
22
In recent years, the prevalence of Parkinson’s disease reached 1% of the general population aged over 60 years. The life expectancy of individuals affected by PD is significantly …
23
… The genome-wide association and interaction study (GWAIS) also found that rs4998386 and neighboring SNPs in GRIN2A modulate the risk of developing PD in heavy coffee drinkers. …
24
… Method: We examined the interaction of caffeine intake with GRIN2A-rs4998386 and CYP1A2-rs762551 polymorphisms in influencing PD risk among 829 incident cases of PD and …
25
… We examined the interaction of caffeine intake with GRIN2A-rs4998386 and CYP1A2-rs762551 polymorphisms in influencing PD risk among 829 incident cases of PD and 2,754 …
26
… A genome-wide gene-environment study found association between GRIN2A rs4998386 in combination with coffee consumption and PD risk. Light-coffee drinkers were defined as …
27
… In the gene, the T allele of the SNP rs4998386 is associated with a reduced risk among heavy coffee drinkers, whereas this variant has a minimal effect among light coffee drinkers [26•]. …
28
Systemic lupus erythematosus (SLE) patients are a high-risk population for suicide. Glutamatergic neurosystem genes have been implicated in the neurobiology of …
29
Since proving adenosine triphosphate (ATP) functions as a neurotransmitter in neuron/glia interactions, the purinergic system has been more intensely studied within the scope of the …
30
… (75) Specifically, heavy coffee drinkers exhibited a greater reduction in the odds of Parkinson’s disease per copy of the T allele for rs4998386 (OR (standard error) = 0.43 (0.07), P = 6 × …
31
… Um de interação com a cafeína obteve como maior sinal um polimorfismo no gene GRIN2A (rs4998386) em associação a DP. Portadores do alelo T possuem menor risco de DP …
32
Molecular mechanisms of Parkinson's disease (PD) have already been investigated in various different omics landscapes. We reviewed the literature about different omics approaches …
33
Caffeine is neuroprotective in animal models of Parkinson's disease (PD) and caffeine intake is inversely associated with the risk of PD. This association may be influenced by the …
34
… We examined the interaction of caffeine intake with GRIN2A (rs4998386) and CYP1A2 (… In analyses stratified by GRIN2Ars4998386 genotype, the inverse association between …
35
Parkinson’s disease is the second most common neurodegenerative disease, afflicting 1-2% of the population over the age of 65, and its prevalence is expected to rise as the …
36
… to be less frequent in carriers of the rs4998386-T allele, but this association … rs4998386 and coffee consumption was in part explained by a positive association between the rs4998386-…
37
… The SNP rs4998386 in GRIN2A was shown as protective from PD in heavy coffee drinkers (OR = 0.43), but not in light coffee drinkers.117, 118 This result was replicated in a Swedish …
38
… from a clinic-based convenience sample of ∼1500 cases and 900 controls: the first GWIA reported on a genome-wide significant interaction of coffee consumption and SNP rs4998386 …
39
… The GRIN2A SNPs interacting with caffeine were rs4998386 … GRIN2A SNP rs4998386 and its interaction with caffeine … An association was observed between rs4998386 and PD with …
40
This interdisciplinary dissertation comprised a normative analysis: social justice in genomics research, and a statistical and functional analyses: evaluating gene-environment …
41
… The GWAIS reviled strong PD association and caffeine interaction with rs4998386 and the … Thus, here in, we attempt to replicate the previously reported association of rs4998386 and …
42
… rs4998386 separately in cases and controls (Table S1). We found a strong positive association in controls between rs4998386… , thus suggesting that GRIN2A-rs4998386-T is associated …
43
… may have been driven by an association of coffee consumption with rs4998386 in controls.” It is not clear why association of rs4998386 and coffee in controls is offered as an argument …
44
… The GWAIS reviled strong PD association and caffeine interaction with rs4998386 and the … Thus, here in, we attempt to replicate the previously reported association of rs4998386 and …
45
… The most significant signals came from rs4998386 and neighboring SNPs in GRIN2A. This gene encodes an NMDA glutamate receptor subunit that can regulate excitatory …
46
… Our test of the GRIN2A rs4998386 polymorphism that has been recently associated with decreased risk of developing PD in individuals who are heavy coffee drinkers [23] was an …
47
… In this study, the most significant signal was identified from rs4998386 in the GRIN2A gene and its signal was present in heavy coffee-drinkers (OR: 0.43; P = 6 × 10–7) but not in light …
48
… Study (GWAIS) that was undertaken to identify genes that influenced the inverse association of coffee with the risk of developing PD, the most significant signal came from rs4998386 …
49
A number of gene variants or single nucleotide polymorphisms (SNPs) have been shown to modulate the risk of Parkinson's disease (PD). These variants are identified from genetic …
50
… The GRIN2A rs4998386 T variant carriers had lower risk for PD among heavy coffee drinkers compared with the CC genotype 34 . The association was not seen in those who drink no …
51
… We tested the frequency of rs4998386 and coffee use across disease-specific strata and population structure. There was no evidence for heterogeneity by presence or absence of family …
52
The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has …
53
… a single nucleotide polymorphism, GRIN2A rs4998386 (a gene encoding the NMDA-… development over time in those with the genotype rs4998386 and concluded that 400-600 mg/day …
54
… In genomewide association studies in 1,458 PD patients and 931 controls, heavy coffee drinkers with the lowest risk variant of rs4998386 in GRIN2A had an 81% reduced risk of PD …
55
… The rs4998386 SNP and the neighboring SNPs in GRIN2A gene were associated with PD via heavy coffee consumption. GRIN2A encodes an NMDA-glutamate-receptor subunit and …
56
… Observation on the polymorphism of GRIN2A and GRIN2B gene rs4998386 locus in Parkinson's disease patients in Tianjin [J]. Shandong Medicine 2022; 62 (20): 57-59. [8] Chen P, …
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
No curated studies yet.
Unused Studies0 ▼
No unused studies.