Abstract
BackgroundPain in sickle cell disease (SCD) is severe and multifaceted resulting in significant differences in its frequency and intensity among individuals. In this study, we examined the influence of S100B gene single nucleotide polymorphisms (SNP) on acute and chronic pain variability in SCD.MethodsComposite pain index (CPI) scores captured chronic pain. Painful crisis related emergency care utilization recorded acute pain incidence. Genotyping was performed using MassARRAY iPLEX platform.ResultsRegression analysis revealed associations of increased CPI with rs9722 A allele in additive (p = 0.005) and dominant (p = 0.005) models. Rs1051169 G allele on the other hand was associated with decreased CPI in additive (p = 0.001), and dominant (p = 0.005) models. Sex-specific analysis found that these associations were significant in females but not males in this cohort. Linkage analysis identified two haploblocks. Block 1 (rs9983698-rs9722) haplotype T-A was associated with increased CPI (p = 0.002) while block 2 (rs1051169-rs11911834) haplotype G-G was associated with decreased CPI (p = 0.001). Both haplotypic associations were only significant in females. No association of S100B SNPs with utilization reached statistical significance.ConclusionsS100B SNPs and haplotypes are associated with chronic pain in female, but not male, patients with SCD, implicating a potential role of S100B polymorphism in SCD pain heterogeneity in a sex-dependent manner.
Highlights
Pain in sickle cell disease (SCD) is a significant problem that contributes to considerable morbidity and mortality as well as health care cost [1, 2]
Block 1 haplotype T-A was associated with increased Composite pain index (CPI) (p = 0.002) while block 2 haplotype G-G was associated with decreased CPI (p = 0.001)
S100B single nucleotide polymorphisms (SNP) and haplotypes are associated with chronic pain in female, but not male, patients with SCD, implicating a potential role of S100B polymorphism in SCD pain heterogeneity in a sex-dependent manner
Summary
Pain in sickle cell disease (SCD) is a significant problem that contributes to considerable morbidity and mortality as well as health care cost [1, 2] Both acute and chronic pain in SCD are highly variable in frequency and severity, and the underlying cause of individual differences in SCD pain remains largely unknown [3,4,5,6,7,8]. The S100B gene codes for a calcium binding protein of the S-100 protein family and is located on chromosome 21q22.3 near risk regions for Alzheimer’s disease, bipolar affective disorder, and down syndrome [9, 10] It is abundant in the central nervous system being predominantly expressed in and secreted by astrocytes [11, 12]. We examined the influence of S100B gene single nucleotide polymorphisms (SNP) on acute and chronic pain variability in SCD
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