rs2242041
This is a intron variant variant in the DDC gene.
▶Research that mentions this SNP (1)
▶Replication analysis confirms the association of several variants with acute myeloid leukemia in Chinese populationAssociationN=1,579Songyu Cao et al.(2016)· Journal of Cancer Research and Clinical Oncology
Replication study in a Chinese population confirming associations between 16 SNPs and acute myeloid leukemia (AML) risk identified in European GWAS studies. Seven SNPs showed significant associations with AML susceptibility, including rs2191566 (OR=1.46), rs9290663 (OR=1.26), rs11155133 (OR=1.32), rs10873876 (OR=0.62, protective), rs2239633, rs10821936, and rs2242041, in a case-control study of 545 AML cases and 1034 controls.
About DDC
The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]
View all DDC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…