Prevalence of Pain-Related Single Nucleotide Polymorphisms in Patients of African Origin with Sickle Cell Disease

Abstract

Background Prospective pain genetics research is hindered by a lack of data on the prevalence of polymorphisms in pain-relevant genes for patients with sickle cell disease (SCD). For African–Americans in general, limited information is available in public databases. Methods We prioritized and examined the genotype and allele frequencies of 115 SNPs from 49 candidate pain genes in 199 adult African–Americans and pediatric patients of African origin with SCD. Analyses were performed and compared with available data from public databases. Results Genotype and allele frequencies of a number of SNPs were found to be different between our cohort and those from the databases and between adult and pediatric subjects. Conclusion As pain therapy is inadequate in a significant percentage of patients with SCD, candidate pain genetic studies may aid in designing precision pain medicine. We provide prevalence data as a reference for prospective genetic studies in this population.

Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon

“…Co-inheritance of α-thalassaemia has been inconsistently associated to variable levels of VOC (Platt et al , 1991; Darbari et al , 2012; Tarer et al , 2006). In addition, a few observational studies have explored the associations of VOC with targeted variants in genes coding for enzymes that metabolize analgesics or inflammation-related proteins, with encouraging results (Hu et al , 2016; Jhun et al , 2015; Mendonça et al , 2010; Belfer et al , 2014; Galarneau et al , 2013). Specifically, one study identified and prioritised a total of 115 single nucleotide polymorphisms (SNPs) in 49 candidate genes that modified pain among African-American SCD patients (Jhun et al , 2015); but this has not been followed by genotype to phenotype investigations.…”

The AVPR1A Gene and Its Single Nucleotide Polymorphism rs10877969: A Literature Review of Associations with Health Conditions and Pain

“…Recently published, (Jhun et al, 2015) reported on patients with SCD from two institutions who participated in a pain study exploring pain phenotypes. The population consisted of African American adults and pediatrics patients of African origin.…”

“…Arginine vasopressin is a 7-transmembrane domain G-protein polypeptide that has been identified as being involved in many neurological functions, including aggression, bonding, sex behavior, autism, and schizophrenia (Kreek, Zhou, & Levran, 2011). The single nucleotide polymorphism (SNP) of the arginine vasopressin receptor 1A (AVPR1A) gene (rs10877969), is one of 115 polymorphisms of 49 genes that were previously identified as a candidate pain SNP (Jhun et al, 2015). A SNP is a common type of base pair substitution, which may cause changes in protein expression that lead to differences in response to drugs, appearances, and response to environment.…”

Pharmacogenomics of sickle cell disease: steps toward personalized medicine

“…However, known polymorphisms in the COMT , OPRM1 , and ABCB1 genes can lead to an altered perception of pain and/or a change in response to opioids. 17 , 18 Additionally, the pharmacokinetics of opioids can be altered by genetically mediated variability in the activity of CYP enzymes and by organ dysfunction of SCD. This combination of factors results in a complicated clinical presentation.…”