ArticleExperimental hematology2018
Genetic variants of GCH1 associate with chronic and acute crisis pain in African Americans with sickle cell disease.
Article in Experimental hematology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- Association of COMT rs4680 Genotype With Chronic Neuropathic Pain Experience in Patients With Sickle Cell Disease.Pain management nursing : official journal of the American Society of Pain Management Nurses · 2025Article
- Genetic Modifiers Associated with Vaso-Occlusive Crises and Acute Pain Phenomena in Sickle Cell Disease: A Scoping Review.International journal of molecular sciences · 2025Article
- Utility of blood DNA methylation and immune cell-type estimates to identify clinically relevant links between immunity and health conditions in a large cohort.Frontiers in immunology · 2025Article
- Genetic contributions to pain modulation in sickle cell: A focus on single nucleotide polymorphisms.Gene reports · 2024Article
- Implementation of a Drug Screening Platform to TargetBio-protocol · 2023Article
- Single nucleotide polymorphisms and sickle cell disease-related pain: a systematic review.Frontiers in pain research (Lausanne, Switzerland) · 2023Review
- Candidate gene association study suggests potential role of dopamine beta-hydroxylase in pain heterogeneity in sickle cell disease.Frontiers in genetics · 2023Article
- Phenotypic drug screen uncovers the metabolic GCH1/BH4 pathway as key regulator of EGFR/KRAS-mediated neuropathic pain and lung cancer.Science translational medicine · 2022Article
- Pain Burden in the CASiRe International Cohort of Sickle Cell Patients: United States and Ghana.Pain medicine (Malden, Mass.) · 2022Article
- Article
- PhenylethanolaminePharmacogenomics · 2020Article
- Article
- Update on the pharmacogenomics of pain management.Pharmacogenomics and personalized medicine · 2019Review
- Beta2-Adrenergic Receptor Polymorphisms and Haplotypes Associate With Chronic Pain in Sickle Cell Disease.Frontiers in pharmacology · 2019Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
The multidimensional nature of pain in sickle cell disease (SCD) has rendered its therapeutic management extremely challenging. In this study, we explored the role of five single nucleotide polymorphisms (SNPs) of candidate gene GCH1 in SCD pain. Composite pain index (CPI) scores and acute care utilization rates were used as phenotype markers. Rs8007267 was associated with chronic pain (additive model: B = -3.76, p = 0.037; dominant model: B = -5.61, p = 0.021) and rs3783641 (additive model: incident rate ratio [IRR] = 1.37, p = 0.024; recessive model: IRR = 1.81, p = 0.018) with utilization rate. These associations persisted when subjects with HbSS and HbSβ° genotype only were analyzed. We also identified two haploblocks (rs10483639[G>C]-rs752688[C>T]-rs4411417[T>C] and rs3783641[T>A]-rs8007267[T>C]) with SNPs in high linkage disequilibrium. Of these, haplotype T-C of haploblock rs3783641-rs8007267 showed significant association with rate of utilization (odds ratio [OR] = 0.31, p = 0.001). Our study indicates potential contribution of GCH1 polymorphisms to the variability of pain in African Americans with SCD.
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Registered trials
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