{{Rsnum
|rsid=2372536
|Gene=ATIC
|Chromosome=2
|position=215325297
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.225
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ATIC
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 52.3 | 43.1 | 4.6
| HCB | 60.0 | 40.0 | 0.0
| JPT | 54.5 | 40.9 | 4.5
| YRI | 92.1 | 7.9 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 60.0 | 40.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2372536
|allele=G
|frequency=0.275
|uid=1103658362519
|type=homozygous_SNP
|hugo=ATIC
|ensembl gene=ENSG00000138363
|ensembl transcript=ENST00000236959
|sift=TOLERATED
|disease=Defects in ATIC are the cause of AICA-ribosuria (MIM:608688); also known as AICA-ribosiduria. It is a neurologically devasting inborn error of purine biosynthesis. AICA-ribosuria patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide (also known as ZMP) and its derivatives in erythrocytes and fibroblasts. AICA-ribosuria causes profound mental retardation, epilepsy, dysmorphisc features and congenital blindness.
}}

{{PharmGKB
|RSID=rs2372536
|Name_s=ATIC: 347C>G, mRNA 521C>G, Thr116Ser
|Gene_s=ATIC
|Feature=
|Evidence=PubMed ID:15677700
|Annotation=Risk or phenotype-associated allele: ATIC 347CC (116Thr/Thr) > GC (116Thr/Ser) > GG (116Ser/Ser) Phenotype: A composite pharmacogenetic index (additive from zero to five) was calculated using the following values: ATIC 347CC or TSER*3/*3 or SLC19A1 80GG or SLC19A1 80GA genotypes were valued as 0, ATIC 347CG or TSER*2/*3 or SLC19A1 80AA genotypes were valued as 1, and ATIC 347GG or TSER*2/*2 genotypes were valued as 2. The sum originating from each component (ATIC + TSER + SLC19A1) was calculated and constitutes the pharmacogenetic index for the patient. There was a significant association between smaller pharmacolgical index and greater number of tender joints (p = 0.002), swollen joints (p = 0.003), greater physician's global assessment of disease activity (p = 0.032), and higher modified Health Assessment Questionnaire (mHAQ) (p = 0.047). Study size: Study population/ethnicity: Significance metric(s): p < 0.05. Type of association: PD; PK; GN; FA
|Drugs=methotrexate
|Drug Classes=
|Diseases=Arthritis, Rheumatoid
|Curation Level=Curated
|PharmGKB Accession ID=PA165110756
}}

{{PharmGKB
|RSID=rs2372536
|Name_s=ATIC:347C>G (Thr116Ser)
|Gene_s=ATIC
|Feature=
|Evidence=PubMed ID:15457444
|Annotation=Rheumatoid arthritis patients taking methotrexate (MTX) >3 months who carry the ATIC 347GG (116Ser/Ser) genotype showed lower disease activity as assessed by the physician (p = 0.02) and fewer swollen joints (p = 0.06) compared with carriers of combined ATIC CG and CC genotypes; and a pharmacogenetic index of the combined variant alleles for MTX pathway gene variants, TYMS *2, ATIC 347C>G (116Ser), and SLC19A1 (RFC-1) 80A>G (27Arg), was associated with less tender joints (p = 0.012), less swollen joints (p = 0.004), less physician-assessed disease activity (p = 0.0004), and less patient-assessed difficulty with physical tasks (p = 0.001).
|Drugs=methotrexate
|Drug Classes=
|Diseases=Arthritis, Rheumatoid
|Curation Level=Curated
|PharmGKB Accession ID=PA165106805
}}

{{PharmGKB
|RSID=rs2372536
|Name_s=ATIC:347C>G
|Gene_s=ATIC
|Feature=
|Evidence=PubMed ID:19016697
|Annotation=In 330 patients who completed 3 months methotrexate treatment for psoriasis, no significant genotypic associations were found between clinical outcome (e.g. efficacy, toxicity) and 50 SNPs in pathway genes for methotrexate metabolism (ATIC, FPGS, GGH, MTHFR), including 47 common ( >5% minor allele frequency) haplotype-tagging SNPs (r(2) > 0.8) plus 3 additional SNPs.
|Drugs=folic acid; methotrexate
|Drug Classes=
|Diseases=Psoriasis
|Curation Level=Curated
|PharmGKB Accession ID=PA165106620
}}

{{PMID Auto
|PMID=22140583
|Title=A Genetic Signature of Spina Bifida Risk from Pathway-Informed Comprehensive Gene-Variant Analysis
|OA=1
}}

{{PMID Auto
|PMID=19193698
|Title=Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.
|OA=1
}}

{{GET Evidence
|gene=ATIC
|aa_change=Thr116Ser
|aa_change_short=T116S
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2372536
|overall_frequency_n=2664
|overall_frequency_d=10758
|overall_frequency=0.24763
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=22
|n_articles=3
|n_articles_annotated=3
|in_pharmgkb=Y
|pph2_score=0.001
|nblosum100=-2
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}