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Article

Clinical genetics of functionally mild non-coding GTP cyclohydrolase 1 (GCH1) polymorphisms modulating pain and cardiovascular risk.

Mutation research - 1 Jan 2000

Doehring Alexandra, Antoniades Charalambos, Channon Keith M, Tegeder Irmgard, Lötsch Jörn

Abstract excerpt

Guanosine triphosphate cyclohydrolase 1 (GCH1) is the first enzyme in the tetrahydrobiopterin (BH4) biosynthesis, an important co-factor for the formation of nitric oxide, biogenic amines and serotonin. Hereditary diseases such as DOPA-responsive dystonia and atypical phenylketonuria are known to be caused by coding or splice-site mutations in the GCH1 gene, leading mostly to a dominant negative enzyme. However,...

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Source

Identifiers

PMID: 18515178
DOI: 10.1016/j.mrrev.2008.04.007

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Clinical genetics of functionally mild non-coding GTP cyclohydrolase 1 (GCH1) polymorphisms modulating pain and cardiovascular risk.PMID 18515178Read ↗

Reliable screening for a pain-protective haplotype in the GTP cyclohydrolase 1 gene (GCH1) through the use of 3 or fewer single nucleotide polymorphisms.Semantic proximity Read ↗

Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk.Semantic proximity Read ↗

Cross-sectional assessment of the consequences of a GTP cyclohydrolase 1 haplotype for specialized tertiary outpatient pain care.Semantic proximity Read ↗

Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.Semantic proximity Read ↗

GTP cyclohydroxylase1 (GCH1): Role in neurodegenerative diseases.Semantic proximity Read ↗

A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.Semantic proximity Read ↗

Association of guanosine triphosphate cyclohydrolase 1 gene polymorphisms with fibromyalgia syndrome in a Korean population.Semantic proximity Read ↗

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Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.Semantic proximity Read ↗

A GTP cyclohydrolase 1 genetic variant delays cancer pain.Semantic proximity Read ↗

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.Semantic proximity Read ↗

Pathogenic Variant in the 5'-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.Semantic proximity Read ↗

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