rs841

This is a 3 prime utr variant variant in the GCH1 gene.

ClinVar annotation

Benign★★★
1 submitter2 publications

Dystonia 5 (DRD); GTP cyclohydrolase I deficiency; not specified

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Research that mentions this SNP (2)

Association between catechol‐O‐methyl transferase gene polymorphisms and fibromyalgia in a Korean population: A case–control study
AssociationN=426Park DJ et al.(2016)· European Journal of Pain

This international doctoral thesis examined gene-physical activity interactions in fibromyalgia through six studies analyzing 64 SNPs across 34 candidate genes in Spanish women. The case-control study (314 fibromyalgia cases vs. 112 controls) identified associations of rs841 (GCH1), rs1799971 (OPRM1), and rs2097903 (COMT) with fibromyalgia susceptibility (p=0.04, p=0.02, and p=0.04 respectively). Cross-sectional studies (n=274-276 fibromyalgia patients) found that SCN9A rs4453709 and other genetic polymorphisms interacted with physical activity to influence pain, fatigue, and resilience outcomes.

Traits studied:Fatigue (reduced motivation, reduced activity)Fibromyalgia susceptibilityPain (algometry, bodily pain)Resilience (optimism, satisfaction with life)
A Linkage Disequilibrium between Genes at the Serine Protease Inhibitor Gene Cluster on Chromosome 14q32.1 Is Associated with Wegener's Granulomatosis
AssociationN=350Stefan Borgmann et al.(2001)· Clinical Immunology

This doctoral thesis conducted multiple candidate gene association studies in 274-426 southern Spanish women with fibromyalgia to investigate gene-physical activity/sedentary behavior interactions with pain, fatigue, and resilience. Study III identified rs841 (GCH1) GG genotype (OR=0.61, p=0.04) and rs2097903 (COMT) AT/TT genotypes (OR=1.66, p=0.04) associated with fibromyalgia susceptibility, and confirmed rs1799971 (OPRM1) GG genotype (OR=0.58, p=0.02) confers genetic risk. Study IV found rs6311/rs6313 (HTR2A) polymorphisms individually associated with algometer pain score, and gene-sedentary behavior interactions involving rs4680/rs165599 (COMT), rs1383914 (ADRA1A), rs12994338/rs4453709 (SCN9A), and rs6860 (CHMP1A) significantly associated with pain outcomes. SCN9A emerged as most robust gene for fibromyalgia phenotype.

Traits studied:FatigueFibromyalgia susceptibilityPain (algometer pain threshold, bodily pain, pain catastrophizing, acute pain/VAS)Physical activity levelResilienceSedentary behavior

About GCH1

This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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