rs2159100
Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C
Chr 12:2237227
12p13.33
Intron Variant
Population Frequencies12
African
C 0.53528T 0.46472CC 0.290673CT/TC 0.489218TT 0.220108pop=52,774
African American
C 0.53665T 0.46335CC 0.291724CT/TC 0.489846TT 0.21843pop=50,918
African Others
C 0.4978T 0.5022CC 0.261853CT/TC 0.471983TT 0.266164pop=1,856
Asian
C 0.93439T 0.06561CC 0.872535CT/TC 0.1237TT 0.003765pop=11,156
East Asian
C 0.9421T 0.0579CC 0.887327CT/TC 0.109549TT 0.003124pop=8,964
European
C 0.674669T 0.325331CC 0.456672CT/TC 0.435996TT 0.107333pop=540,730
Latin American 1
C 0.688T 0.312CC 0.47682CT/TC 0.422278TT 0.100902pop=9,534
Latin American 2
C 0.7405T 0.2595CC 0.549709CT/TC 0.381577TT 0.068714pop=17,522
Other
C 0.71443T 0.28557CC 0.51995CT/TC 0.388965TT 0.091085pop=17,544
Other Asian
C 0.9028T 0.0972CC 0.812044CT/TC 0.181569TT 0.006387pop=2,192
South Asian
C 0.7431T 0.2569CC 0.558563CT/TC 0.369087TT 0.07235pop=7,906
Studies27
Unread Studies27 ▼
1
… In vitro experiments revealed that the minor (T) allele of SNP rs2159100 – which lies within an enhancer region in intron 3 that physically interacts with the CACNA1C gene promoter – …
2
Risk preference is often defined as the tendency to engage in risky activities. Increasing evidence shows that risk preference is associated with mood disorders. However, …
3
The role of genetics in the susceptibility for anxiety disorders is widely acknowledged, and research to identify risk factors has advanced to encompass larger genome-wide approaches. …
4
… strong evidence for CACNA1C promoter interaction (rs2159100) based on experiments in HEK cells 31 . However, while the rs2159100 variant did also show highly significant allele …
5
… Однако наблюдается отклонение частот генотипов от ожидаемого соотношения по закону ХардиВайнберга, что может свидетельствовать о связи полиморфизма rs2159100 …
6
The CACNA1C gene encodes the pore-forming alpha-1c subunit of L-type voltage-gated calcium channels. The calcium influx through these channels regulates the transcription of the …
7
The bipolar disorders are a group of severe mood disorders that together afflict about 3% of the global population. They are characterized by the presence of both manic or hypomanic …
8
CACNA1C encodes the pore-forming subunit of the L-type voltage gated calcium channel Cav1.2. Genome wide association studies have consistently shown that variation in …
9
Bipolar disorder (BD) is a severe disorder, and it is associated with an increased risk of mortality. About 25% of patients with BD have attempted and 11% have died by suicide…
10
The basis of the morphological and behavioral differences between humans and other animals have been studied since antiquity. However, the genetic basis for these human-specific …
11
We would try to answer three fundamental unanswered questions regarding the oldest bipolar disorder mood-stabilizer, lithium:(a) why can lithium accomplish that task,(b) …
12
Mood disorders are amongst the most prevalent and disabling conditions worldwide. There is increasing evidence for the involvement of disrupted circadian rhythms in mood disorders. …
13
Deficits in perception of emotional prosody have been described in patients with affective disorders at behavioral and neural level. In the current study, we use an imaging genetics …
14
… They consequently performed functional analysis of CACNA1C locus and specified that the genomic region encompassing two genome-wide significant SNP (rs2159100 and …
15
There is a paucity of efficacious new compounds to treat neuropsychiatric disorders. We present a novel approach to neuropsychiatric drug discovery based on high-content …
16
… transmission in the brain; in fact, some missense mutations in the gene coding region are responsible for Timothy syndrome in humans, in particular, rs1006737 and rs2159100 are the …
17
Schizophrenia (SCZ) is a devastating mental disorder affecting approximately 1% of the worldwide population. Early studies have indicated that genetics plays an important role in the …
18
Schizophrenia (SZ) is a common and severe polygenic neuropsychiatric disorder, arising as a result of the complex interactions between diverse common and rare genetic risk factors. …
19
… SNP rs2159100 did not show any consistent allele-specific regulatory activity. SNP rs4765905, however, consistently showed significantly reduced expression of the luciferase reporter …
20
… , as a proxy variant for rs1006737 (rs2159100) is associated with increased gene expression in … variant rs2159100, or any other genetic variant in linkage disequilibrium to rs1006737. …
21
Das noch junge Feld des Genomic Imaging hilft bei dem Verständnis der Pathophysiologie neuropsychiatrischer und neurodegenerativer Erkrankungen durch die Untersuchung von …
22
… rs2159100, which is in complete LD with rs1006737, correlates significantly (p < .01) with CACNA1C mRNA expression in human postmortem dorsolateral prefrontal cortex from fetal, …
23
… However, the expression probe near exon 8a (37564) and the other three probes were not even nominally associated with rs2159100 genotype. In addition, when the Bonferroni …
24
A large portion of common variant loci associated with genetic risk for schizophrenia reside within noncoding sequence of unknown function. Here, we demonstrate promoter and …
25
Through recent genome‐wide association studies (GWASs), several groups have reported significant association between variants in the calcium channel, voltage‐…
26
… An analysis of the SNPExpress database (25) using marker SNPs for ANK3 (rs4948418; r 2 = 1 with rs10994336) and CACNA1C (rs2159100; r 2 = 1 with rs1006737), where the sample …
27
… and common allele homozygotes (probe 28032) (rs2159100, P = .002 for linear regression analysis). … Subjects were genotyped for CACNA1C rs2159100, which is in allelic identity with …
Curated Studies0 ▼
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Unused Studies0 ▼
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