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rs4994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2 2x higher risk in certain women for cardiac events
(C;T) 2x higher risk in certain women for cardiac events
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome8
Position37966280
GeneADRB3
is asnp
is mentioned by
dbSNPrs4994
ebirs4994
HLIrs4994
Exacrs4994
Varsomers4994
Maprs4994
PheGenIrs4994
hapmaprs4994
1000 genomesrs4994
hgdprs4994
ensemblrs4994
gopubmedrs4994
geneviewrs4994
scholarrs4994
googlers4994
pharmgkbrs4994
gwascentralrs4994
openSNPrs4994
23andMers4994
23andMe allrs4994
SNP Nexus

SNPshotrs4994
SNPdbers4994
MSV3drs4994
GWAS Ctlgrs4994
GMAF0.1001
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs4994, also known as Trp64Arg or as the Arg64 variant, is a SNP in the ADRB3 gene. The rs4994(C) allele encodes the variant arginine.

In a study of 600+ women initially referred for coronary angiography and then followed for 6 years, during which time 115 experienced a heart problem, rs4994(C) individuals were calculated to be at higher risk (adjusted hazard ratio 2.10, CI: 1.05-4.24). This risk was due to subtle increases in risk for all of the individual endpoints, and was only seen in women without obstructive coronary artery disease.[PMID 18331634OA-icon.png]

OMIM109691
DescOBESITY, SUSCEPTIBILITY TO
Variant0001
Relatedalso


[PMID 19553224] Trp64Arg polymorphism in ADRB3 gene is associated with elite endurance performance

[PMID 19565482] Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domains



[PMID 20503258] Candidate gene association study conditioning on individual ancestry in patients with type 2 diabetes and metabolic syndrome from Mexico City


[PMID 21285172] Positive Correlation Between Beta-3-Adrenergic Receptor (ADRB3) Gene and Gout in a Chinese Male Population


[PMID 22550477OA-icon.png] ADRB3 Polymorphism Associated with BMI Gain in Japanese Men


ClinVar
Risk rs4994(C;C)
Alt rs4994(C;C)
Reference rs4994(T;T)
Significance Other
Disease Obesity
Variation info
Gene ADRB3
CLNDBN Obesity
Reversed 1
HGVS NC_000008.10:g.37823798A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033197.2,



[PMID 17512307OA-icon.png] Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations.


[PMID 17825092OA-icon.png] Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.


[PMID 18304332OA-icon.png] No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.


[PMID 18426866OA-icon.png] Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) Cohort.


[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 18611262OA-icon.png] Genetic variation in candidate obesity genes ADRB2, ADRB3, GHRL, HSD11B1, IRS1, IRS2, and SHC1 and risk for breast cancer in the Cancer Prevention Study II.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.


[PMID 19587357OA-icon.png] A systematic meta-analysis of genetic association studies for diabetic retinopathy.


[PMID 20028936] Are elite endurance athletes genetically predisposed to lower disease risk?


[PMID 20078877OA-icon.png] Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.


[PMID 22391941] Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.


GET Evidence
ADRB3-W64R
aa_change Trp64Arg
aa_change_short W64R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0845739
summary



Response to Diet and Exercise


[PMID 22775001OA-icon.png] Polymorphisms in Fas gene is associated with HIV-related lipoatrophy in Thai patients


[PMID 24201118] Significant role of ADRB3 rs4994 towards the development of coronary artery disease


[PMID 22858200] Angiotensinogen gene polymorphisms and food-intake behavior in young, normal female subjects in Japan.


[PMID 26410617] Association analysis of the beta-3 adrenergic receptor Trp64Arg (rs4994) polymorphism with urate and gout


[PMID 26410938] [Genetic Association of ADRA2A and ADRB3 Genes with Metabolic Syndrome among the Tatars]