CHROMOSOME 14 AKT1 14q32.33 GENE VIEW AKT1 · 14q32.33 14q31 14q33 rs2498786 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs2498786 C / G · AKT1 · 14q32.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G C Cytosine — reference allele G Guanine — variant allele genetics.jdge.cc

rs2498786

Gene: AKT1 — AKT Serine/Threonine Kinase 1 Chr 14:104796031 14q32.33 2KB upstream variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies9

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Total C 0.58714G 0.41286CC 0.405605CG/GC 0.363079GG 0.231316pop=14,344
African C 0.7709G 0.2291CC 0.619692CG/GC 0.30238GG 0.077928pop=4,286
African American C 0.7676G 0.2324CC 0.614973CG/GC 0.305299GG 0.079728pop=4,114
African Others C 0.849G 0.151CC 0.732558CG/GC 0.232558GG 0.034884pop=172
European C 0.4833G 0.5167CC 0.280593CG/GC 0.405399GG 0.314008pop=9,038
Latin American 1 C 0.658G 0.342CC 0.491228CG/GC 0.333333GG 0.175439pop=114
Latin American 2 C 0.735G 0.265CC 0.597884CG/GC 0.275132GG 0.126984pop=378
Other C 0.701G 0.299CC 0.578704CG/GC 0.24537GG 0.175926pop=432
South Asian C 0.93G 0.07CC 0.928571CG/GC 0GG 0.071429pop=28

Studies26

Unread Studies26
1
… Association between the akt1 single nucleotide polymorphism (rs2498786, rs2494752 and rs5811155) and microscopic polyangiitis risk in a Chinese population. Mol Genet Genomics. (…
2
… The rs2498786 and rs7254617 are promoter … rs2498786 (P = 0.003) and rs1130233 (P =0.003). Genotype-based analysis further revealed significant associations for rs2498786 (P = …
3
PID
Alzheimer’s disease (AD) constitutes the primary leading cause of dementia. Pinellia ternata (Thunb.) Breit. is a traditional Chinese herb with unclarified potential therapeutic effects against AD. This study aimed to explore the therapeutic potential and underlying mechanism of Pinellia ternata (Thunb.) Breit. in the treatment of AD.
4
To compare the comprehensive performance of conventional logistic regression (LR) and seven machine learning (ML) algorithms in Noise-Induced Hearing Loss (NIHL) prediction, …
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Accumulated evidence supports the tendency of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis(AAV) to coexist with atherosclerosis (AS). …
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… that SNPs observed in AKT1 (rs2498786, rs2494752 and rs5811155) are associated with MPA risk in a Chinese population. SNPs in AKT1 (rs2498786, rs2494752 and rs5811155) may …
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Locally advanced cervical cancer (LACC) is frequently treated with neoadjuvant chemotherapy (NACT), which includes paclitaxel and platinum. However, the development …
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The PI3K/Akt pathway involves in regulating resistance to platinum-based neoadjuvant chemotherapy (NACT) in locally advanced cervical cancer (LACC) patients. Single …
9
This study aimed to research the possible mechanism and effect of active ingredients of corn silk on Alzheimer's disease (AD) by the method of network pharmacology, molecular …
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PID
Alzheimer's Disease is considered as an insidious neurodegenerative progressive disease but its pathogenesis has not been elucidated. Acoritataninowii Rhizoma exhibits anti-dementia effects as a traditional Chinese medicine (TCM), which is linked to its anti- Alzheimer's Disease mechanism. In this study, network pharmacology and molecular docking were used to examine the potential of Acoritataninowii Rhizoma for Alzheimer's Disease. In order to construct PPI networks and drug-component-target-disease networks, disease-related genes and proteins were gathered from the database. Gene ontology (GO), pathway enrichment (KEGG), and molecular docking were used to forecast the potential mechanism of Acoritataninowii Rhizoma on Alzheimer's disease. Therefore, 4 active ingredients and 81 target genes were screened from Acoritataninowii Rhizoma, 6765 specific target genes were screened from Alzheimer's Disease, and 61 drug-disease cross genes were validated. GO analysis showed that Acoritataninowii Rhizoma can regulate processes such as the protein serine/threonine kinase associated with MAPK. KeGG pathway analysis showed that the signaling pathways affected by Acoritataninowii Rhizoma were fluid shear stress and atherosclerosis, AGE-RAGE and other pathways. Molecular docking implied that the pharmacological influences of the bioactive constituents of Acoritataninowii Rhizoma (Cycloaartenol and kaempferol) on Alzheimer's Disease may related to ESR1 and AKT1, respectively. AKT1 and ESR1 may be the core target genes of the treatment for Alzheimer's disease. Kaempferol and Cycloartenol might be core bioactive constituents for treatment.
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PID
Background Phosphatidylinositol 3-kinase (PI3K) and protein kinase B (AKT) are involved in the clearance of Mycobacterium tuberculosis (MTB) by macrophages.
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Dementias, including the type associated with Alzheimer’s disease (AD), are on the rise worldwide. Similarly, type 2 diabetes mellitus (T2DM) is one of the most prevalent chronic …
13
… 是山药有效成分治疗AD 的核心靶 点ꎬAKT又称蛋白激酶Bꎬ是PI3K信号通路调节 细胞生长,迁移 功能的主要下游信号分子ꎬAKT1 的基因多态性可能与AD相关[9] ꎬAKT基因位点 rs2498786…
14
Increasing evidence shows that the PI3K/AKT/mTOR pathway can be activated by a variety of stimulus in immune cells. Schistosomiasis Japonica is a serious threat to …
15
… AKT1 rs2498786 CC genotype was a risk variant to insulin resistance and AD [20]. Moreover, patients carrying the TT genotype of Transcription factor 7-like 2 (TCF7L2), a diabetes-…
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Alzheimer’s disease (AD) is genetically complex with multifactorial etiology. Here, we aim to identify the potential viral pathogens leading to aberrant inflammatory and oxidative stress …
17
… O sítio de metilação 3 do BDNF mostrouse associado à variante rs2498786 (0,019); o sítio cg23497217 mostrou-se associado à variante rs1034528 (p = 0,019); o sítio cg05218375 …
18
Cervical cancer (CC) is the third most common malignancy in women globally, and persistent infection with the oncogenic human papillomaviruses (HPV) is recognized as the major …
19
… Non-responders to NAC had a higher frequency of the rs10416620 and rs62107593 G nucleotide in the alleles of the AKT2 gene; rs2498786 and the GGCC haplotype of …
20
PID
The PI3K-AKT-mTOR pathway may be involved in the development of central nervous system (CNS) metastasis from breast cancer. Accordingly, herein we explored whether single nucleotide polymorphisms (SNPs) of this pathway are associated with altered risk of CNS metastasis formation in metastatic breast cancer patients.
21
PI 3K/ AKT pathway plays important roles in inflammatory and fibrotic diseases while its connection to radiation pneumonitis ( RP ) is unclear. In this study, we explored the associations …
22
Dysregulated neutrophil extracellular traps (NETs) formation contributes to the pathogenesis of anti-neutrophil cytoplasmic Ab (ANCA)-associated vasculitis (AAV). Increasing evidence …
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Cervical cancer is one of the most frequent malignant tumours in women. The PI3K/Akt pathway plays a role in chemoresistance to platinum-based neoadjuvant chemotherapy (…
24
The mTOR signaling pathway plays a crucial role in the carcinogenesis of renal cell cancer (RCC). We sought to investigate the influence of genetic variations in the mTOR …
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PID
Backgroud Genetic variations in a PTEN/AKT/mTOR signaling axis may influence cellular functions including cell growth, proliferation and apoptosis, and then increase the individual’s risk of cancer. Accordingly, we explore the association between single nucleotide polymorphisms (SNPs) of these genes and prostate cancer (PCa) in our Chinese population. Methods Subjects were recruited from 666 PCa patients and 708 cancer-free controls, and eight SNPs in the PTEN/AKT/mTOR axis were determined by the TaqMan assay. Odds ratios (OR) and 95% confidence intervals (95% CI) were evaluated by logistic regression. Results We observed significant associations between PCa risk and mTOR rs2295080 [P = 0.027, OR = 0.85, 95%CI = 0.74–0.98], and AKT2 rs7254617 (P = 0.003, OR = 1.35, 95%CI = 1.11–1.64). When estimated these two SNPs together, the combined genotypes with 2–4 risk alleles (rs2295080 T and rs7254617 A alleles) were associated with an increased risk of PCa compared with 0–1 risk alleles, which was more pronounced among subgroups of age >71 years, smokers, drinkers and no family history of cancer. Results of stratified analyses by cliniopathological parameters revealed that the frequencies of the combined genotypes with 2–4 risk alleles in advanced stage were significantly higher than in localized stage(P = 0.022), but there was no significant association in Gleason score and PSA level. Conclusion Our results indicate, for the first time that the two variants in AKT2 and mTOR, particularly the joint genotypes with 2–4 risk alleles may influence PCa susceptibility and progression in Chinese, and the association appeared to be more strong in the subgroup of smokers and drinkers.
26
Limited evidence indicates genes related to muscle performance may also influence habitual physical activity (PA). Genetic variants angiotensin-converting enzyme insertion/deletion (…
Curated Studies0

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Unused Studies0

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