{{Rsnum
|rsid=2072671
|Gene=CDA
|Chromosome=1
|position=20589208
|Orientation=plus
|GMAF=0.2144
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=CDA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 44.2 | 45.1 | 10.6
| HCB | 80.3 | 18.2 | 1.5
| JPT | 56.6 | 40.7 | 2.7
| YRI | 93.2 | 6.8 | 0.0
| ASW | 78.9 | 17.5 | 3.5
| CHB | 80.3 | 18.2 | 1.5
| CHD | 79.8 | 18.3 | 1.8
| GIH | 55.4 | 38.6 | 5.9
| LWK | 84.5 | 15.5 | 0.0
| MEX | 46.6 | 48.3 | 5.2
| MKK | 61.5 | 35.9 | 2.6
| TSI | 38.6 | 49.5 | 11.9
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs2072671
|Name_s=CDA:79A>C, K27Q
|Gene_s=CDA
|Feature=Exon/NonSyn
|Evidence=PubMed ID:15224082
|Annotation=Risk or phenotype-associated allele: None. Phenotype: Variants identified in a screen of 13 genes involved in the gemcitabine drug metabolic pathway. For the non-synonymous CDA:79A>C (K27Q) SNP, the C allele (27Gln) was at frequency 0.36 and 0.04 in Europeans and Africans, respectively. There was a significant difference between ethnic groups in genotype frequency distribution (p < 0.001) Study size: 180. Study population/ethnicity: Healthy, unrelated blood donors of European (n = 95) and African (n = 85) descent. Significance metric(s): p < 0.001. Type of association: GN.
|Drugs=gemcitabine
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165110714
}}

{{PharmGKB
|RSID=rs2072671
|Name_s=CDA: c.79A>C, p.Lys27Gln
|Gene_s=CDA
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19458626
|Annotation=Risk or phenotype-associated allele: wildtype AA genotype. Phenotype: The wildtype homozygous genotype of rs2072671 (c.79AA, p.27Lys/Lys) and AA gentoype at promoter position -92 (SNP4) had lower incidences for grade III/IV liver toxicity when compared with the respective variant heterozygous and variant homozygous genotypes (13 vs 21 vs 23%) (p = 0.03). Study size: 360. Study population/ethnicity: AML patients. /Caucasian Germans. Significance metric(s): Type of association: GN; CO; TOX; ADR
|Drugs=cytarabine; daunorubicin
|Drug Classes=
|Diseases=Drug Toxicity; Leukemia, Myeloid, Acute
|Curation Level=Curated
|PharmGKB Accession ID=PA165109670
}}

{{PharmGKB
|RSID=rs2072671
|Name_s=CDA: c.79A>C,  p.Lys27Gln
|Gene_s=CDA
|Feature=Exon/NonSyn
|Evidence=PubMed ID:17194903
|Annotation=Risk or phenotype-associated allele: CDA*3 and CDA*2 haplotypic alleles (defined by combined SNPs: rs2072671 c.79A p.Lys27, and rs60369023 c.208G p.Ala70) Phenotype: The CDA*3 haplotype (c.79A, p.Lys27/ c.208A, p.Thr70) was associated with increased incidences of grade 3 or higher neutropenia, and decreased clearance of gemcitabine ( p = 0.0017, n = 177) in the patients receiving gemcitabine with fluorouracil (p = 0.029, n = 14), cisplatin (p = 0.030, n = 30), or carboplatin (p = 0.033, n = 16). The CDA*2 haplotype (c.79C, p.Gln27/ c.208G, p.Ala70) showed no significant effect on gemcitabine pharmacokinetics. Study size: subsets of 256. Study population/ethnicity: Patients with pancreatic, lung or mesothelium carcinoma. /Japanese Significance metric(s): p less than 0.03. Type of association: PK; CO; TOX; ADR
|Drugs=carboplatin; cisplatin; fluorouracil; gemcitabine
|Drug Classes=PLATINUM COMPOUNDS
|Diseases=Drug Toxicity; Lung Neoplasms; Mesothelioma; Neutropenia; Pancreatic Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165109667
}}

{{PMID Auto
|PMID=21884687
|Title=Rapid Allele-Specific PCR method for CDA 79A&gt;C (K27Q) genotyping: A useful pharmacogenetic tool and world-wide polymorphism distribution
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=19941076
|Title=PCR-based methods for CDA K27Q and A70T genotyping: genotypes and alleles distribution in a central Italy population.
}}

{{GET Evidence
|gene=CDA
|aa_change=Lys27Gln
|aa_change_short=K27Q
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2072671
|overall_frequency_n=2817
|overall_frequency_d=10758
|overall_frequency=0.261852
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=17
|n_articles=3
|n_articles_annotated=2
|in_pharmgkb=Y
|nblosum100=-2
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=22884143
|Title=Association of polymorphisms of cytosine arabinoside-metabolizing enzyme gene with therapeutic efficacy for acute myeloid leukemia
}}

{{PMID Auto
|PMID=23651026
|Title=CDA gene polymorphisms and enzyme activity: genotype-phenotype relationship in an Italian-Caucasian population
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}