{{Rsnum
|rsid=8034191
|Gene=AGPHD1
|Chromosome=15
|position=78513681
|Orientation=plus
|GMAF=0.2084
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HYKK
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 18.2 | 47.3 | 34.5
| HCB | 0.0 | 4.4 | 95.6
| JPT | 0.0 | 4.4 | 95.6
| YRI | 0.0 | 22.4 | 77.6
| ASW | 3.6 | 26.8 | 69.6
| CHB | 0.0 | 4.4 | 95.6
| CHD | 0.0 | 10.2 | 89.8
| GIH | 6.1 | 32.7 | 61.2
| LWK | 2.7 | 30.9 | 66.4
| MEX | 5.2 | 32.8 | 62.1
| MKK | 3.2 | 37.7 | 59.1
| TSI | 17.6 | 50.0 | 32.4
| HapMapRevision=28
}}[http://blog.23andme.com/2008/12/09/snpwatch-two-vices-one-snp-%E2%80%94-drinking-and-smoking-behavior-both-linked-to-nicotine-receptor-genes/ 23andMe blog] [[rs8034191]](C;C) decreased response to alcohol
{{Report GE
|PubMed=18385738
|Source=journal
|AffyProbeset=SNP_A-8656206
|AffyOrientation=reverse
|AlleleA=A
|AlleleB=G
|onGW5=
|rsid=8034191
|ancestral=T
|RiskPopulation=Caucasian(Europe)
|RiskAllele=C
|CaseFreq=0.41
|ControlFreq=0.34
|OddsRatioHet=1.27
|OddsRatioHom=1.80
|OddsRatioAll=1.32
|Disease=Lung cancer
|DiseaseSymbol=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|18385676|OA=1
}}

{{GWAS Summary
|SNP=rs8034191
|PubMedID=18385738
|Condition=Lung cancer
|Gene=CHRNA3,CHRNA5, CHRNB4, PSMA4, LOC123688
|Risk Allele=C
|pValue=5.00E-020
|OR=1.3
|95CI=1.23-1.37
}}
{{PMID Auto
|PMID=19300482
|Title=A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci.
|OA=1
}}

{{PMID Auto GWAS
|PMID=18780872
|Trait=Lung cancer
|Title=Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer
|RiskAllele=G
|Pval=1E-8
|OR=1.38
|ORtxt=[1.17-1.64]
|OA=1
}}
{{PMID Auto
|PMID=19465454
|Title=The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung
}}

{{omim
|desc=LUNG CANCER SUSCEPTIBILITY 2; LNCR2
|id=612052
|rsnum=8034191
}}
{{PMID Auto
|PMID=19641473
|Title=Racial Differences in the Association Between SNPs on 15q25.1, Smoking Behavior, and Risk of Non-small Cell Lung Cancer
|OA=1
}}
{{PMID Auto
|PMID=19654303
|Title=Deciphering the Impact of Common Genetic Variation on Lung Cancer Risk: A Genome-Wide Association Study
|OA=1
}}
{{PMID Auto
|PMID=19733931
|Title=Blood-based CHRNA3 single nucleotide polymorphism and outcome in advanced non-small-cell lung cancer patients
}}

{{PharmGKB
|RSID=rs8034191
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18780872; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer. (Initial Sample Size: 194 cases, 219 controls; Replication Sample Size: 3,878 cases, 4,831 controls); (Region: 15q25.1; Reported Gene(s): LOC123688, PSMA4, CHRNA3, CHRNA5, CHRNB4; Risk Allele: rs8034191-G); (p-value= 0.00000001).This variant is associated with Lung cancer.
|Drugs=
|Drug Classes=
|Diseases=Lung Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740854
}}
{{PMID Auto
|PMID=20056643
|Title=A rigorous and comprehensive validation: common genetic variations and lung cancer
|OA=1
}}

{{PMID Auto
|PMID=20068085
|Title=Analysis of Genetic Variants in Never-Smokers with Lung Cancer Facilitated by an Internet-Based Blood Collection Protocol: A Preliminary Report
|OA=1
}}

{{PMID Auto
|PMID=20554942
|Title=Nicotinic Acetylcholine Receptor Region on Chromosome 15q25 and Lung Cancer Risk Among African Americans: A Case-Control Study
|OA=1
}}

{{PharmGKB
|RSID=rs8034191
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18385676
|Annotation=This variant is associated with increased risk for lung cancer.
|Drugs=
|Drug Classes=
|Diseases=Lung Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161615728
}}

{{PharmGKB
|RSID=rs8034191
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18385738; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A susceptibility locus for lung cancer maps to nicotinic acteylcholine receptor subunit genes on 15q25 (Initial Sample Size: 1,926 cases, 2,522 controls; Replication Sample Size: 2,513 cases, 4,752 controls; Risk Allele: rs8034191-C).
|Drugs=
|Drug Classes=
|Diseases=Lung Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356774
}}

{{PharmGKB
|RSID=rs8034191
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18385676; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1 (Initial Sample Size: 1,154 cases, 1,137 controls; Replication Sample Size: 2,724 cases, 3,694 controls; Risk Allele: rs8034191-G).
|Drugs=
|Drug Classes=
|Diseases=Lung Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356773
}}

{{PharmGKB
|RSID=rs8034191
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19300482; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: A Genome-Wide Association Study in Pulmonary Disease, Chronic Obstructive (COPD): Identification of Two Major Susceptibility Loci. (Initial Sample Size: 823 cases, 810 controls; Replication Sample Size: 2,840 family members, 389 cases, 472 controls); (Region: 15q25.1; Reported Gene(s): CHRNA3,CHRNA4,CHRNA5, IREB2, PSMA4, NP_001013641.2,Q9UD29; Risk Allele: rs8034191-C); (p-value= 0.0000000001).This variant is associated with Pulmonary Disease, Chronic Obstructive.
|Drugs=
|Drug Classes=
|Diseases=Pulmonary Disease, Chronic Obstructive
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739912
}}

{{PMID Auto
|PMID=21750227
|Title=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 Auto
|PMID=21966413
|Title=Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population
|OA=1
}}

{{PMID Auto
|PMID=18759969
|Title=In search of causal variants: refining disease association signals using cross-population contrasts.
|OA=1
}}

{{PMID Auto
|PMID=18957677
|Title=The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer.
|OA=1
}}

{{PMID Auto
|PMID=19029397
|Title=Nicotinic receptor gene variants influence susceptibility to heavy smoking.
|OA=1
}}

{{PMID Auto
|PMID=19064933
|Title=Chromosome 15q25.1 genetic markers associated with level of response to alcohol in humans.
|OA=1
}}

{{PMID Auto
|PMID=19247474
|Title=Genome-wide and candidate gene association study of cigarette smoking behaviors.
|OA=1
}}

{{PMID Auto
|PMID=19259974
|Title=Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
|OA=1
}}

{{PMID Auto
|PMID=19300500
|Title=A genome-wide association study of pulmonary function measures in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19639606
|Title=Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
|OA=1
}}

{{PMID Auto
|PMID=19706762
|Title=The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.
|OA=1
}}

{{PMID Auto
|PMID=19800047
|Title=Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene.
|OA=1
}}

{{PMID Auto
|PMID=19836008
|Title=A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
|OA=1
}}

{{PMID Auto
|PMID=20010835
|Title=Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
|OA=1
}}

{{PMID Auto
|PMID=20548021
|Title=Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.
|OA=1
}}

{{PMID Auto
|PMID=21081471
|Title=Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.
|OA=1
}}

{{PMID Auto
|PMID=21232152
|Title=Epidemiology, radiology, and genetics of nicotine dependence in COPD.
|OA=1
}}

{{PMID Auto
|PMID=21320324
|Title=The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.
|OA=1
}}

{{PMID Auto
|PMID=21697764
|Title=Susceptibility locus for lung cancer at 15q25.1 is not associated with risk of pancreatic cancer.
|OA=1
}}

{{PMID Auto
|PMID=21810735
|Title=Single nucleotide polymorphisms in CHRNA5 rs16969968, CHRNA3 rs578776, and LOC123688 rs8034191 are associated with heaviness of smoking in women in Northeastern Ontario, Canada.
}}

{{PMID Auto
|PMID=22017462
|Title=Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children.
}}

{{PMID Auto
|PMID=22028403
|Title=A case-control study of a sex-specific association between a 15q25 variant and lung cancer risk.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs8034191
|overall_frequency_n=40
|overall_frequency_d=128
|overall_frequency=0.3125
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=30
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=22701590
|Title=Strong association between two polymorphisms on 15q25.1 and lung cancer risk: a meta-analysis
|OA=1
}}

{{PMID Auto
|PMID=24254305
|Title=Quantitative assessment of the influence of common variations (rs8034191 and rs1051730) at 15q25 and lung cancer risk
}}

{{PMID Auto
|PMID=22914670
|Title=Association of IREB2 and CHRNA3/5 polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population.
}}

{{PMID Auto
|PMID=23299987
|Title=Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility.
|OA=1
}}

{{PMID Auto
|PMID=25051068
|Title=Four SNPs in the CHRNA3/5 Alpha-Neuronal Nicotinic Acetylcholine Receptor Subunit Locus Are Associated with COPD Risk Based on Meta-Analyses
}}

{{PMID Auto
|PMID=25074529
|Title=Genetic Association Between AGPHD1 Variant and Lung Cancer Risk
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}