Transient Receptor Potential Polymorphism and Haplotype Associate with Crisis Pain in Sickle Cell Disease

Jhun, Ellie H.; Hu, Xiaoyu; Sadhu, Nilanjana; Yao, Yingwei; Hé, Ying; Wilkie, Diana J.; Molokie, Robert E.; Wang, Zaijie J.

doi:10.2217/pgs-2017-0198

Cited by 26 publications

(19 citation statements)

References 49 publications

(64 reference statements)

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“…These results are similar to those found in a study of 132 African-American individuals, whose participants ranged in age from 15 -70 years, with a mean age of 34.2 years. (18) In another study, in the USA, with 542 adults (18 -84 years), the mean age was 32 years. (17) In the United Kingdom, a higher average was observed; 32 years in cases of HbSS; and 39 years for HbSC.…”

Section: Discussionmentioning

confidence: 96%

“…In a sample of 542 patients receiving care in North Carolina, USA, 427 (78.8%) had HbSS; 70 (12.9%), HbSC; 23 (4.2%), Sβ + ; and 22 (4.1%), Sβ 0 . (17)(18)(19)(20) In Chicago, USA, HbSS corresponded to 102 (77%) patients, followed by 15 cases (11.45%) HbSC, and 15 (11.45) with other variants. (15) At King's College Hospital, London, UK, 712 patients were observed for 10 years (2004-2013); there were 444 (62%) with HbSS; 229 (32%) with HbSC; 33 (5%) with HbSβ + ; and 6 (1%) with HbSβ 0 .…”

Section: Discussionmentioning

confidence: 99%

“…(22) Also in the United States, in another study conducted by the University of Illinois, 86 (65%) were women. (18) The reason why adult women with sickle-cell anemia live longer than men is unknown. (12) Relatively lower blood viscosity in women, due to low levels of Hb and hematocrit, may be one of the possible causes.…”

Section: Discussionmentioning

confidence: 99%

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Prevalência da doença falciforme em adultos com diagnóstico tardio

et al. 2019

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Resumo Objetivo: Estimar a prevalência da doença falciforme em adultos com diagnóstico tardio, em tratamento nos ambulatórios de hematologia na rede de saúde do Estado do Mato Grosso do Sul de 2013 a 2017; descrever as características sociodemográficas; verificar associações entre os genótipos em relação a idade atual, os genótipos e a idade ao diagnóstico. Métodos: Estudo transversal, retrospectivo, com dados coletados em dois hospitais de ensino. As variáveis investigadas foram: ano do atendimento, genótipo, sexo, data de nascimento, idade ao diagnóstico, naturalidade e procedência. A prevalência foi estimada por ponto (%) e intervalo de confiança de 95%. Resultados: A prevalência foi 3,9%, com 103 adultos com doença falciforme, sendo 60 do sexo feminino e 43 do masculino. Predominou o genótipo HbSS, seguido pelo HbSC. A mediana de idade foi de 35 para os HbSS e 31 para os HbSC. A mediana de idade ao diagnóstico foi cinco anos para os HbSS e 21 para HbSC. Não houve associação entre idade (anos) dos pacientes e genótipo (teste Qui-quadrado p=0,601) e nem entre genótipo e faixa etária (teste Qui-quadrado p= 0,318). Conclusão: O genótipo mais frequente foi o HbSS, seguido pelo HbSC. O diagnóstico dos pacientes com SC foi mais tardio do que naqueles com genótipo SS. As variáveis sociodemográficas e o diagnóstico tardio alertam para a necessidade de fortalecimento de ações na rede de saúde, que interferem sensivelmente na morbimortalidade de adultos com Doença Falciforme.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Prevalência da doença falciforme em adultos com diagnóstico tardio

et al. 2019

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“…Compared with patients with the major homozygous GG genotype, those with the minor homozygous AA and heterozygous AG genotypes reported higher rates of acute pain. Moreover, in sickle cell patients, the GCAGG haplotype that contains the rs920829 G allele and rs1025928 C allele is associated with greater utilization of emergency departments and/or acute care centers for pain crisis [58]. In the same sample, study participants with the minor G allele of the TRPV1 rs222747 polymorphism showed a trend for decreased pain measured by the composite pain index (CPI) [58].…”

Section: Trp Genetic Variability and Painmentioning

confidence: 98%

Taste the Pain: The Role of TRP Channels in Pain and Taste Perception

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Jaime-Lara

et al. 2020

IJMS

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Transient receptor potential (TRP) channels are a superfamily of cation transmembrane proteins that are expressed in many tissues and respond to many sensory stimuli. TRP channels play a role in sensory signaling for taste, thermosensation, mechanosensation, and nociception. Activation of TRP channels (e.g., TRPM5) in taste receptors by food/chemicals (e.g., capsaicin) is essential in the acquisition of nutrients, which fuel metabolism, growth, and development. Pain signals from these nociceptors are essential for harm avoidance. Dysfunctional TRP channels have been associated with neuropathic pain, inflammation, and reduced ability to detect taste stimuli. Humans have long recognized the relationship between taste and pain. However, the mechanisms and relationship among these taste–pain sensorial experiences are not fully understood. This article provides a narrative review of literature examining the role of TRP channels on taste and pain perception. Genomic variability in the TRPV1 gene has been associated with alterations in various pain conditions. Moreover, polymorphisms of the TRPV1 gene have been associated with alterations in salty taste sensitivity and salt preference. Studies of genetic variations in TRP genes or modulation of TRP pathways may increase our understanding of the shared biological mediators of pain and taste, leading to therapeutic interventions to treat many diseases.

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“…For candidate SNP genotyping, DNA from blood and buccal swab samples were initially extracted as described in prior studies [23,30,31]. The QuickGene DNA whole blood extraction kit (AutoGen, MA, USA) or a salting-out approach adopted from Miller et al was used for DNA isolation from blood [32].…”

Section: Dna Isolation and Genotypingmentioning

confidence: 99%

S100B single nucleotide polymorphisms exhibit sex-specific associations with chronic pain in sickle cell disease in a largely African-American cohort

et al. 2020

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Background Pain 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. Methods Composite pain index (CPI) scores captured chronic pain. Painful crisis related emergency care utilization recorded acute pain incidence. Genotyping was performed using MassAR-RAY iPLEX platform. Results Regression 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.

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Transient Receptor Potential Polymorphism and Haplotype Associate with Crisis Pain in Sickle Cell Disease

Cited by 26 publications

References 49 publications

Prevalência da doença falciforme em adultos com diagnóstico tardio

Prevalência da doença falciforme em adultos com diagnóstico tardio

Taste the Pain: The Role of TRP Channels in Pain and Taste Perception

S100B single nucleotide polymorphisms exhibit sex-specific associations with chronic pain in sickle cell disease in a largely African-American cohort

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