CHROMOSOME 20 CHRNA4 20q13.33 GENE VIEW CHRNA4 · 20q13.33 20q12 20q14 rs2273504 — ~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 rs2273504 G / A · CHRNA4 · 20q13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs2273504

Gene: CHRNA4 — Cholinergic Receptor Nicotinic Alpha 4 Subunit Chr 20:63356709 20q13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.821576A 0.178424GG 0.678022GA/AG 0.287108AA 0.03487pop=176,944
African G 0.85296A 0.14704GG 0.729919GA/AG 0.246078AA 0.024003pop=10,582
African American G 0.85298A 0.14702GG 0.730286GA/AG 0.24539AA 0.024323pop=10,196
African Others G 0.852A 0.148GG 0.720207GA/AG 0.264249AA 0.015544pop=386
Asian G 0.5414A 0.4586GG 0.293436GA/AG 0.495963AA 0.2106pop=5,698
East Asian G 0.539A 0.461GG 0.287993GA/AG 0.502099AA 0.209908pop=4,764
European G 0.830932A 0.169068GG 0.690177GA/AG 0.281509AA 0.028314pop=154,766
Latin American 1 G 0.853A 0.147GG 0.732759GA/AG 0.241379AA 0.025862pop=464
Latin American 2 G 0.7534A 0.2466GG 0.581267GA/AG 0.344353AA 0.07438pop=2,904
Other G 0.8079A 0.1921GG 0.663897GA/AG 0.288089AA 0.048015pop=2,166
Other Asian G 0.554A 0.446GG 0.321199GA/AG 0.464668AA 0.214133pop=934
South Asian G 0.901A 0.099GG 0.807692GA/AG 0.186813AA 0.005495pop=364

Studies42

Unread Studies42
1
Dysfunction in ion channels or processes involved in maintaining ionic homeostasis is thought to lower the threshold for cortical spreading depression (CSD), and plays a role in …
2
Genetics plays a significant role in smoking behaviours and abstinence. In this genetics sub-study, we evaluated treatment-seeking Caucasian smokers (n= 374) receiving bupropion (n…
3
The study aimed to discover some variables influencing the risk of nicotine dependence in the Anatolian population. We examined 10 candidate genes and analysed 10 single …
4
… A mild association trend was also observed between the rs2273504 G allele of the CHRNA4 gene and the number of CPD ( P < .05), and to a lesser extent with AO ( P = .06). …
5
… Greater percent decreases in β 2 *-nAChR availability in smokers over prolonged abstinence were found in homozygotes of CHRNA4 SNP rs2273502 and rs2273504 compared to …
6
The aim of this study is to determine association between α-4 subunit of nicotinic acetylcholine receptor single nucleotide polymorphism (rs2236196 and rs2273502 loci) and …
7
Nicotine's rewarding effects are mediated through distinct subunits of nAChRs, encoded by different nicotinic cholinergic receptor (CHRN) genes and expressed in discrete regions in …
8
This chapter summarizes genetic factors that contribute to variation in nicotine Nicotine pharmacokinetics and nicotine’s pharmacological action in the central nervous system (CNS), …
9
A grande variabilidade individual em resposta a fármacos antitabagismo sugere que tratamentos específicos podem ser mais efetivos em determinados subgrupos de …
10
The large individual variability in response to drugs for smoking cessation suggests that specific treatments can be more effective in particular subgroups of smokers. In the …
11
A major milestone of child development is the acquisition and use of speech and language. Communication disorders, including speech sound disorder ( SSD ), can impair a child's …
12
Nicotine addiction is a complex and multifactorial disease affecting the central nervous system and consists of a set of characteristic symptoms and signs. Objective The …
13
Cigarette smoke is a strong risk factor for obesity and cardiovascular disease. The effect of genetic variants involved in nicotine metabolism on obesity or body composition has not been …
14
Atherosclerosis is the underlying cause of cardiovascular disease, the leading cause of morbidity and mortality in all American populations, including American Indians. …
15
We investigated whether nicotine dependence affects these endophenotypes in Japanese schizophrenia patients and whether alpha4 and beta2 subunits of neuronal …
16
Recent research strongly suggests that a specific genetic background influences smoking behaviour and may also determine the efficacy of pharmacotherapies used for smoking …
17
Smoking behaviour is a major public health problem worldwide. Several sources have confirmed the implication of genomic factors in smoking behaviour. These factors …
18
Public Health Genomics (PHG) is the field of translating genome-based information and technologies into policies and healthcare. Among its many tasks, PHG provides also new …
19
The α4β2 nicotinic receptor is of central importance in tobacco dependence, while the homomeric α7 receptor may also play a role. In this candidate gene study, we …
20
In 1988 the US Surgeon General's report stated that tobacco use, in any form, is addicting as a result of its nicotine content and defined the processes determining tobacco addiction as" …
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La presente tesis plantea la hipótesis de la existencia de una asociación de las variaciones genéticas que contiene los genes CHRNA3, CHRNA5 y CHRNB4 y varios fenotipos de …
22
Large-scale population studies have proved that genetic factors contribute to individual differences in smoking behavior. Genes responsible for nicotine's pharmacokinetics and …
23
Nicotine dependence (ND) is one of the world's leading causes of preventable death. Nicotine addiction and other forms of drug addiction continue to be significant public health …
24
After the Smoking Ordinance enacted in HK since 1/2007, shifting of smoking from outdoor to home was found, home becomes a major source of secondhand smoke (…
25
… In addition, nAChR α4 subunit (CHRNA4) rs2273504 showed the strongest association with ND (G/A or G/G, 72.4%, n=330; A/A, 45.87%, n=83; P <0.001, OR=3.11, 95%CI=1.90-5.10). …
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… For the intronic rs2273504 typed in R1 and R2, relevant associations emerged neither in the Fagerstrom nor in the case–control analyses, although the small effect estimates in both …
27
Nicotine dependence (ND), a major public health challenge, is a complex, multifactorial behavior, in which both genetic and environmental factors have a role. Brain nicotinic …
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Substance addiction is a complex chronic brain disorder, characterized by neurobiological changes leading to compulsive drug seeking and taking. Although environmental factors …
29
Tobacco smoking continues to be a leading cause of preventable death. Recent research has underscored the important role of specific cholinergic nicotinic receptor subunit (CHRN) …
30
The mesolimbic system is thought to be involved in the reinforcing action of many addictive drugs and the release of dopamine modulated by neuronal nicotine cholinergic receptors (…
31
… Two SNPs in CHRNA4 were associated in the EA sample (rs2273504 and rs1044396) and in the AA sample (rs3877137 and rs2236196). Also haplotype analysis showed significant …
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Extensive epidemiological data indicate that vulnerabilities to nicotine dependence (ND) are influenced by genes, environmental factors, and their interactions. …
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… that for CHRNA4 SNPs rs2273502 and rs2273504 there were no significant differences across … of this ANKK1 SNP with the CHRNA4 SNPs rs2273504 and rs2236196, as evidence by …
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… with all three indices of nicotine dependence examined (smoking quantity (SQ), heaviness of smoking index (HSI) and FTND) in African American women, another SNP (rs2273504) …
35
Previous work suggests that young women who smoke cigarettes regularly, or did so in the past, manifest a neurocognitive profile that is characterized by small but significant …
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People who begin daily smoking at an early age are at greater risk of long-term nicotine addiction. We tested the hypothesis that associations between nicotinic acetylcholine receptor (…
37
The determination of gene-by-gene and gene-by-environment interactions has long been one of the greatest challenges in genetics. The traditional methods are typically inadequate …
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Current smoking cessation treatments are not optimal as the long-term abstinence rates are low. Nicotine replacement therapy and bupropion are the only pharmacotherapies widely …
39
… rs3787137 and rs2236196 in the AA samples and rs2273504 and rs1044396 in the EA samples with … In contrast, SNPs rs2273504 and rs2236196 or SNP rs2273504 were significantly …
40
Nicotine is the major addictive substance in cigarettes, and genes involved in sensing nicotine are logical candidates for vulnerability to nicotine addiction. We studied six single-…
41
Tezimin tüm aşamalarında yanımda olan ve desteğini esirgemeyen değerli arkadaşım Arş. Gör. Mehmet Tuğhan KIZILTUĞ'a, karşılaştığım zorluklarda yol gösterici olan Arş. Gör. …
42
Smoking cessation is extremely important to prevent the development of the serious diseases, such as COPD and cancers. Absorbed nicotine through smoking into the body is mainly …
Curated Studies0

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Unused Studies0

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