Association of TNF-α polymorphism rs1800629 with multisomatoform disorder in a group of German patients and healthy controls: An explorative study

Harms, Katharina C.; Kapitza, Karl P; Pahl, Lisa; Tran, Anh-Thu; Volkmann, Lilly; Buers, Dennis; Karst, Matthias; Stuhrmann, Manfred; Bernateck, Michael

doi:10.1016/j.cyto.2012.12.004

Cited by 13 publications

(15 citation statements)

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“…The current collective was previously investigated regarding the role of single-nucleotide polymorphisms (SNPs) of different genes [6–8]. The study group consisted of 149 healthy individuals and 151 MSD patients.…”

Section: Methodsmentioning

confidence: 99%

“…Diagnosis of MSD was aided via the administration of the German version of the 36-item Short Form 36 (SF-36) questionnaire, i.e., the Physical Component Summary score needed to be ≤ 40, demonstrating strong psychophysiological strain. Additionally, to check for the presence of MSD, a modified interview of the somatoform disorders section of the Structured Clinical Interview for the Diagnostic and Statistical Manual of Mental Disorder IV (DSM-IV) (SCID) was used [1, 2, 6–8]. Further assessment was carried out through the Symptom Checklist 27 (SCL-27) [44], Patient Health Questionnaire (PHQ) [45], and Trier Inventory of Chronic Stress (TICS) [46].…”

Section: Methodsmentioning

confidence: 99%

“…A large body of research has been devoted to the role of single-nucleotide polymorphisms (SNP) in genes relevant to pain physiology. Results are not consistent but suggest a role of SNPs in serotonergic and dopaminergic but not the COMT-genes in the etiology of MSD [6–8].…”

Section: Introductionmentioning

confidence: 99%

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Childhood traumatization is associated with differences in TRPA1 promoter methylation in female patients with multisomatoform disorder with pain as the leading bodily symptom

et al. 2019

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Background The construct of multisomatoform disorder (MSD) is a common point of reference for patients in different somatic and psychosomatic specialties and therefore useful in studying large well-characterized cohorts of a prototype of a somatoform disorder and in parallel as a functional somatic syndrome (FSS). This disorder is characterized by distressing and functionally disabling somatic symptoms with chronic pain as the most frequent and clinically relevant complaint. Pain is perceived by nociceptive nerve fibers and transferred through the generation of action potentials by different receptor molecules known to determine pain sensitivity in pathophysiological processes. Previous studies have shown that for the transient receptor potential ankyrin 1 (TRPA1), receptor methylation of a particular CpG dinucleotide in the promoter region is inversely associated with both heat pain and pressure pain thresholds. In this study, we hypothesized that TRPA1 promoter methylation regulates pain sensitivity of patients with multisomatoform disorder (MSD). A cohort of 151 patients with MSD and 149 matched healthy volunteers were evaluated using quantitative sensory testing, clinical and psychometric assessment, and methylation analysis using DNA isolated from whole blood. Results We found CpG -628 to be correlated with mechanical pain threshold and CpG -411 to be correlated with mechanical pain threshold in female volunteers, i.e., higher methylation levels lead to higher pain thresholds. A novel finding is that methylation levels were significantly different between patients with no and severe levels of childhood trauma. CpG methylation also correlated with psychometric assessment of pain and pain levels rated on a visual analog scale. Conclusion Our findings support the hypothesis that epigenetic regulation of TRPA1 plays a role in mechanical pain sensitivities in healthy volunteers. They further provide evidence for the possible influence of childhood traumatic experiences on the epigenetic regulation of TRPA1 in patients with MSD. Electronic supplementary material The online version of this article (10.1186/s13148-019-0731-0) contains supplementary material, which is available to authorized users.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Childhood traumatization is associated with differences in TRPA1 promoter methylation in female patients with multisomatoform disorder with pain as the leading bodily symptom

et al. 2019

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“…The prevalence of MSD is 8% and thus posts a relevant disease burden [ 3 ] The pathophysiology of functional somatic syndromes, fibromyalgia, and MSD is incompletely understood but a complex interplay of biographic, environmental, genetic, and epigenetic factors influencing allostasis seems likely [ 4 , 5 ], especially as the similarity in symptoms and patients suggest common mechanisms which lends validity to the construct of MSD. In a population-based twin study, genetic influences have been shown to play a role especially in painful FSS, whereas inconsistent results suggest a role of single nucleotide polymorphisms (SNPs) of serotonergic and dopaminergic genes [ 6 – 8 ]. Our group recently demonstrated common sensory alterations through quantitative sensory testing in patients with MSD [ 9 ] similar to those found in patients with fibromyalgia (FMS) [ 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

Leptin promoter methylation in female patients with painful multisomatoform disorder and chronic widespread pain

et al. 2022

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Background Different functional somatic syndromes (FSS), fibromyalgia (FMS) and other unexplained painful conditions share many common clinical traits and are characterized by troubling and functionally disabling somatic symptoms. Chronic pain is most frequently reported and at the center of patients’ level of disease burden. The construct of multisomatoform disorder (MSD) allows to subsume severely impaired patients suffering from FSS, FMS and other unexplained painful conditions to be examined for common underlying processes. Altered leptin levels and a pathological response of the HPA-axis as a result of chronic stress and childhood trauma have been suggested as one of the driving factors of disease development and severity. Previous studies have demonstrated that methylation of the leptin promoter can play a regulatory role in addiction. In this study, we hypothesized that methylation of the leptin promoter is influenced by the degree of childhood traumatization and differs between patients with MSD and controls. A cohort of 151 patients with MSD and 149 matched healthy volunteers were evaluated using clinical and psychometric assessment while methylation level analysis of the leptin promoter was performed using DNA isolated from whole blood. Results In female controls, we found CpG C-167 to be negatively correlated with leptin levels, whereas in female patients CpG C-289, C-255, C-193, C-167 and methylation cluster (C-291 to C-167) at putative bindings sites for transcription factors Sp1 and c/EBPalpha were negatively correlated with leptin levels. Methylation levels were significantly lower in female patients CpG C-289 compared with controls. When looking at female patients with chronic widespread pain methylation levels were significantly lower at CpG C-289, C-255 and methylation cluster (C-291 to C-167). Conclusion Our findings support the hypothesis that epigenetic regulation of leptin plays a role in the regulation of leptin levels in patients with MSD. This effect is more pronounced in patients with chronic widespread pain.

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“…Diversas outras teorias também propostas incluem a ativação mastocitária (31)(32)(33) , liberação de mediadores inflamatórios (34)(35)(36) , infecção subclínica (37) , alterações neuropáticas (38,39) , autoimunidade (40) , alteração da vascularização da bexiga (41) , causas psiquiátricas (42)(43)(44) e susceptibilidade genética (45,46) . Considerando a dificuldade de diagnóstico, a ampla variedade de apresentações e a associação da CI com outras doenças, é provável que ela represente uma síndrome com múltiplos mecanismos fisiopatológicos e fatores etiológicos.…”

Section: Critérios De Exclusão Niddk Para Definição De Cistite Intersunclassified

Análise de polimorfismos de nucleotídeo único na cistite intersticial

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DedicatóriaA minha família pelos ensinamentos, pelos exemplos de vida e pelo apoio incondicional. A minha querida esposa e companheira Paula, que sempre me incentivou e tornou possível a realização deste sonho. "All our science, measured against reality, is primitive and childlike -and yet it is the most precious thing we have". Albert Einstein 1879-1955Agradecimentos Ao Professor Dr. Homero Bruschini, pela oportunidade, pela confiança, pelos inúmeros conselhos e ensinamentos que contribuíram muito para o meu crescimento pessoal e profissional. À Professora Dra. Sabrina Reis pelo carinho e pelos ensinamentos em pesquisa e genética.Aos colegas urologistas que fazem parte do grupo de Bexiga Neurogênica do HCFMUSP, aos residentes da urologia e aos funcionários da urologia por sua dedicação diária no atendimento e cuidados dos pacientes que participaram neste estudo.À equipe do LIM 55 que me acolheu com muito carinho e pelo imprescindível auxílio no aprendizado das técnicas moleculares.Às pacientes com Cistite Intersticial, motivo deste estudo. À FAPESP pelo apoio ao projeto e financiamento dos materiais. rs1800896, rs1800471, rs1800629, rs361525, rs1800497, rs6311, rs6277, rs6276, rs6313, rs2835859, rs11127292, rs2243248, rs6887695, rs3212227, rs1799971, rs12579350, rs3813034, rs6746030. A genotipagem foi realizada através da técnica de PCR em tempo real (q-PCR) e correlacionada com o diagnóstico de CI e com a intensidade dos sintomas álgicos. RESULTADOS: O alelo polimórfico (T) do SNP rs11127292 foi mais frequente nas pacientes com CI em relação ao grupo controle (p:0,01). O alelo polimórfico (T) do SNP rs6311 foi significativamente mais frequente nas pacientes com dor mais intensa (p:0,03). A frequência do alelo selvagem (A) do SNP rs1799971 foi maior em pacientes com dor leve a moderada (p:0,04 INTRODUCTION: Interstitial cystitis (IC) or painful bladder syndrome (PBS) is a chronic syndrome characterized by the presence of bladder/pelvic pain or discomfort and voiding symptoms such as urgency and increased urinary waking and night-time frequency in the absence of another identifiable cause to justify these symptoms. So far, there is no diagnostic test or marker to establish the presence of IC. Thus, the diagnosis is predominantly clinical, based on signs and symptoms and dependent on the exclusion of other urological diseases. The difficulty in the diagnosis and treatment of these patients reflects the little that is known about IC physiopathology and about the genetic background of the disease. The identification of new markers may provide a better understanding and management of the syndrome. As an attempt to identify genetic markers that may be associated with IC, we evaluated the presence of some genetic polymorphisms, single nucleotide polymorphisms (SNPs), in the DNA of patients with the diagnostic criteria of IC, and we compared their prevalence among IC patients and with a control group representative of the general population. The correlation of these polymorphisms considering IC and pain intensity ...

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Association of TNF-α polymorphism rs1800629 with multisomatoform disorder in a group of German patients and healthy controls: An explorative study

Cited by 13 publications

References 28 publications

Childhood traumatization is associated with differences in TRPA1 promoter methylation in female patients with multisomatoform disorder with pain as the leading bodily symptom

Childhood traumatization is associated with differences in TRPA1 promoter methylation in female patients with multisomatoform disorder with pain as the leading bodily symptom

Leptin promoter methylation in female patients with painful multisomatoform disorder and chronic widespread pain

Análise de polimorfismos de nucleotídeo único na cistite intersticial

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