rs2073440

This is a protein-altering variant in the HDC gene.

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Research that mentions this SNP (2)

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Variability in Ethanol Biodisposition in Whites Is Modulated by Polymorphisms in the Adh1b and Adh1c Genes
ReviewCarmen Martínez et al.(2010)· Hepatology

A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.

Traits studied:Bone density/osteoporosisCaffeine sensitivityCardiovascular diseaseCeliac diseaseCerebrovascular diseaseCoronary heart diseaseDetoxification capacityEating behaviorGlucose homeostasisHistamine intoleranceInflammatory diseasesInsulin resistanceLactose intoleranceLeptin resistanceMetabolic syndromeNickel intoleranceObesityOsteoarthritisOverweightType 2 diabetes
PubMedDOIMetascience Observatory
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Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease
AssociationN=374Srinivasan BS et al.(2009)· Human Mutation

This whole genome association study of 374 Caucasians identified a reproducibly associated axon guidance pathway for Parkinson disease, with rs3770208 (EPHA4, log OR=0.5, p=0.0002) and rs9867325 (EPHA7, log OR=0.61, p=8.65e-05) showing the strongest SNP-level associations. Pathway-level analysis with controlled multiple testing revealed ubiquitin-mediated proteolysis (AUC=0.66, p=0.01), T-cell receptor signaling (AUC=0.59, p=0.04), and axon guidance (AUC=0.60, p=0.05) pathways predictive of PD susceptibility. The axon guidance pathway replicated in an independent PD study.

Traits studied:Idiopathic Parkinson diseaseParkinson disease
PubMedDOIMetascience Observatory

About HDC

This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]

View all HDC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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