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rs8034191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.6 1.80x lung cancer risk; decreased response to alcohol
(C;T) 2.5 1.27x lung cancer risk
(T;T) normal
ReferenceGRCh38 38.1/141
Chromosome15
Position78513681
GeneHYKK
is asnp
is mentioned by
dbSNPrs8034191
ebirs8034191
HLIrs8034191
Exacrs8034191
Varsomers8034191
Maprs8034191
PheGenIrs8034191
hapmaprs8034191
1000 genomesrs8034191
hgdprs8034191
ensemblrs8034191
gopubmedrs8034191
geneviewrs8034191
scholarrs8034191
googlers8034191
pharmgkbrs8034191
gwascentralrs8034191
openSNPrs8034191
23andMers8034191
23andMe allrs8034191
SNP Nexus

SNPshotrs8034191
SNPdbers8034191
MSV3drs8034191
GWAS Ctlgrs8034191
GMAF0.2084
Max Magnitude2.6
? (C;C) (C;T) (T;T) 28
23andMe blog rs8034191(C;C) decreased response to alcohol
Rs8034191
PubMed [PMID 18385738]
Affy Probeset SNP_A-8656206
Affy Orientation reverse
On GW 5.0
Alleles A/B A/G
Ancestral T
Population Caucasian(Europe)
Allele C
Case Freq. 0.41
Control Freq. 0.34
Odds Ratio Het 1.27
Odds Ratio Hom 1.80
Odds Ratio All 1.32
Disease Lung cancer (LC)


rs8034191 increases susceptibility to Lung cancer 1.27 times for heterozygotes (CT) and 1.80 times for homozygotes (CC) [PMID 18385738]

rs8034191 increases susceptibility to Lung cancer 1.28 times for heterozygotes (CT) and 1.81 times for homozygotes (CC) [PMID 18385676OA-icon.png]

GWAS
SNP rs8034191
PubMedID [PMID 18385738]
Condition Lung cancer
Gene CHRNA3,CHRNA5, CHRNB4, PSMA4, LOC123688
Risk Allele C
pValue 5.00E-020
OR 1.3
95% CI 1.23-1.37


[PMID 19300482OA-icon.png] A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci.

GWAS snp
PMID [PMID 18780872OA-icon.png]
Trait Lung cancer
Title Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer
Risk Allele G
P-val 1E-8
Odds Ratio 1.38 [1.17-1.64]

[PMID 19465454] The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung

OMIM612052
DescLUNG CANCER SUSCEPTIBILITY 2; LNCR2
Variant
Relatedalso
[PMID 19641473OA-icon.png] Racial Differences in the Association Between SNPs on 15q25.1, Smoking Behavior, and Risk of Non-small Cell Lung Cancer

[PMID 19654303OA-icon.png] Deciphering the Impact of Common Genetic Variation on Lung Cancer Risk: A Genome-Wide Association Study

[PMID 19733931] Blood-based CHRNA3 single nucleotide polymorphism and outcome in advanced non-small-cell lung cancer patients


[PMID 20056643OA-icon.png] A rigorous and comprehensive validation: common genetic variations and lung cancer


[PMID 20068085OA-icon.png] Analysis of Genetic Variants in Never-Smokers with Lung Cancer Facilitated by an Internet-Based Blood Collection Protocol: A Preliminary Report


[PMID 20554942OA-icon.png] Nicotinic Acetylcholine Receptor Region on Chromosome 15q25 and Lung Cancer Risk Among African Americans: A Case-Control Study






[PMID 21750227] Single-nucleotide polymorphisms (5p15.33, 15q25.1, 6p22.1, 6q27 and 7p15.3) and lung cancer survival in the European Prospective Investigation into Cancer and Nutrition (EPIC)


[PMID 21966413OA-icon.png] Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population


[PMID 18759969OA-icon.png] In search of causal variants: refining disease association signals using cross-population contrasts.


[PMID 18957677OA-icon.png] The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer.


[PMID 19029397OA-icon.png] Nicotinic receptor gene variants influence susceptibility to heavy smoking.


[PMID 19064933OA-icon.png] Chromosome 15q25.1 genetic markers associated with level of response to alcohol in humans.


[PMID 19247474OA-icon.png] Genome-wide and candidate gene association study of cigarette smoking behaviors.


[PMID 19259974OA-icon.png] Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.


[PMID 19300500OA-icon.png] A genome-wide association study of pulmonary function measures in the Framingham Heart Study.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19639606OA-icon.png] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.


[PMID 19706762OA-icon.png] The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.


[PMID 19800047OA-icon.png] Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene.


[PMID 19836008OA-icon.png] A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.


[PMID 20010835OA-icon.png] Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.


[PMID 20548021OA-icon.png] Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.


[PMID 21081471OA-icon.png] Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.


[PMID 21232152OA-icon.png] Epidemiology, radiology, and genetics of nicotine dependence in COPD.


[PMID 21320324OA-icon.png] The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.


[PMID 21697764OA-icon.png] Susceptibility locus for lung cancer at 15q25.1 is not associated with risk of pancreatic cancer.


[PMID 21810735] Single nucleotide polymorphisms in CHRNA5 rs16969968, CHRNA3 rs578776, and LOC123688 rs8034191 are associated with heaviness of smoking in women in Northeastern Ontario, Canada.


[PMID 22017462] Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children.


[PMID 22028403OA-icon.png] A case-control study of a sex-specific association between a 15q25 variant and lung cancer risk.


GET Evidence
rs8034191
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.3125
summary



[PMID 22701590OA-icon.png] Strong association between two polymorphisms on 15q25.1 and lung cancer risk: a meta-analysis


[PMID 24254305] Quantitative assessment of the influence of common variations (rs8034191 and rs1051730) at 15q25 and lung cancer risk


[PMID 22914670] Association of IREB2 and CHRNA3/5 polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population.


[PMID 23299987OA-icon.png] Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility.


[PMID 25051068OA-icon.png] Four SNPs in the CHRNA3/5 Alpha-Neuronal Nicotinic Acetylcholine Receptor Subunit Locus Are Associated with COPD Risk Based on Meta-Analyses


[PMID 25074529] Genetic Association Between AGPHD1 Variant and Lung Cancer Risk


[PMID 25854352] Meta-Analysis of the Association between the rs8034191 Polymorphism in AGPHD1 and Lung Cancer Risk