INT150931

Context Info Confidence 0.59 First Reported 2007 Last Reported 2009 Negated 0 Speculated 0 Reported most in Body Documents 6 Total Number 6 Disease Relevance 1.23 Pain Relevance 1.05

cytosol (GCH1) small molecule metabolic process (GCH1) nucleolus (GCH1) nucleus (GCH1) protein complex assembly (GCH1) protein complex (GCH1)

Anatomy Link Frequency white blood cells 2 GCH1 (Homo sapiens)

Pain Link Frequency Relevance Heat GCH1 47 100.00 Pain 74 99.76 backache 1 94.60 Stimulus evoked pain 1 88.48 Lasting pain 3 73.60 Serotonin 1 72.08 Tetrahydrobiopterin 5 67.76 Hyperalgesia 3 50.00 Analgesic 5 15.68 Sciatica 12 10.00

Disease Link Frequency Relevance Heat Pain 72 99.76 Heart Rate Under Development 1 97.12 Low Back Pain 1 94.60 Dystonia 2 89.28 Hypersensitivity 1 88.48 Phenylketonuria 2 88.24 Disease 2 84.76 Inborn Genetic Diseases 1 72.92 Hyperalgesia 3 50.00 Nerve Root Compression 3 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

CONCLUSIONS: The results strength the support for a modest yet reproducible and consistent pain-protective effect associated with a GCH1 haplotype known to reduce GCH1 and thus BH4 up-regulation.

Negative_regulation (reduce) of GCH1

1) Confidence 0.59 Published 2009 Journal Clin J Pain Section Body Doc Link 19851158 Disease Relevance 0 Pain Relevance 0

CONCLUSIONS: This study verifies previous results that decreased GCH1 function or inducibility as a result of genetic polymorphisms protects against pain.

Negative_regulation (decreased) of GCH1

2) Confidence 0.58 Published 2008 Journal Eur J Pain Section Body Doc Link 18374612 Disease Relevance 0 Pain Relevance 0

GCH1, BH4 and iNOS upregulation in white blood cells after lipopolysaccharide stimulation were decreased in carriers of the GCH1 haplotype, which verified that the genotype groups differed with respect to regulation of the biopterin pathway.

Negative_regulation (decreased) of GCH1 in white blood cells

3) Confidence 0.42 Published 2008 Journal Eur J Pain Section Body Doc Link 18374612 Disease Relevance 0.06 Pain Relevance 0

GCH1, BH4 and iNOS upregulation in white blood cells after lipopolysaccharide stimulation were decreased in carriers of the GCH1 haplotype, which verified that the genotype groups differed with respect to regulation of the biopterin pathway.

Negative_regulation (decreased) of GCH1 in white blood cells

4) Confidence 0.42 Published 2008 Journal Eur J Pain Section Body Doc Link 18374612 Disease Relevance 0.06 Pain Relevance 0

Here, we show that carriers of the pain-protective GCH1 haplotype also carry the c.*243C>T variant and vice versa.

Negative_regulation (carry) of GCH1 associated with pain and gch1

5) Confidence 0.41 Published 2008 Journal Mutat. Res. Section Abstract Doc Link 18515178 Disease Relevance 0.93 Pain Relevance 0.74

We found 3 haplotype blocks across GCH1 including its flanking region based on confidence interval method in European Americans and 5 blocks in African Americans with different size and different contributing SNPs.

Negative_regulation (blocks) of GCH1 associated with gch1

6) Confidence 0.37 Published 2007 Journal Mol Pain Section Body Doc Link PMC1821314 Disease Relevance 0.18 Pain Relevance 0.31

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