Polymorphism in the SCN9A Voltage-Gated Sodium Channel Gene Associated With Interstitial Cystitis/Bladder Pain Syndrome

Reeder, Jay E.; Byler, Timothy; Foster, David C.; Landas, Steve K.; Okafor, Henry; Stearns, Gillian; Wood, Ronald W.; Zhang, Yachao; Mayer, Robert

doi:10.1016/j.urology.2012.07.072

Cited by 18 publications

(14 citation statements)

References 16 publications

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“…Although some studies have recently investigated the association between SCN9A SNPs and the pain phenotype, 15,22,34,42 most of these studies have focused on only one or certain SNPs, and the participants in these studies often had underlying diseases or chronic pain, which made it difficult to investigate the effects of SCN9A on participants' original pain sensitivity. Thus, in the current study, we used a combined candidate and tag SNP approach to explore possible associations between SCN9A SNPs and basal pain perception, as evaluated by experimental methods in healthy female undergraduates.…”

Section: A N U S C R I P Tmentioning

confidence: 99%

“…7,9 Furthermore, some genetic polymorphisms in SCN9A have recently been shown to contribute to the risk or severity of common pain phenotypes. 15,34,35 For example, our research group previously found that a nonsynonymous single-nucleotide polymorphism (SNP), rs4369876 (c. 3312G>T), may decrease postoperative pain sensitivity in patients undergoing surgery. 15 In contrast, another study reported that rs6746030 (c. 3789G>A) was associated with increased pain in patients with chronic pain syndrome.…”

Section: Introductionmentioning

confidence: 99%

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The Effect of SCN9A Variation on Basal Pain Sensitivity in the General Population: An Experimental Study in Young Women

Duan

Guo

Zhang

et al. 2015

The Journal of Pain

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Section: A N U S C R I P Tmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Effect of SCN9A Variation on Basal Pain Sensitivity in the General Population: An Experimental Study in Young Women

Duan

Guo

Zhang

et al. 2015

The Journal of Pain

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“…Na literatura há um único estudo que mostrou uma maior prevalência dos genótipos homozigoto selvagem (AA) e heterozigoto (AG) do SNP rs6746030 (SCN9A) em 39,6% das pacientes estudadas com CI e em apenas 11,5% das mulheres do grupo controle (p = 0,036) (57) .…”

Section: Discussionunclassified

“…Muitos polimorfismos têm sido analisados no estudo de síndromes inflamatórias e dolorosas, mas até agora o único estudo de polimorfismo em CI foi o do gene SCN9A (57) .…”

Section: Critérios De Exclusão Niddk Para Definição De Cistite Intersunclassified

“…(57) . Embora não exista evidência de que o canal Nav1.7 esteja presente na bexiga, e existam estudos controversos em relação a associação do SNP do gene SCN9A com susceptibilidade a dor crônica (60) , esses achados podem sugerir a influência genética na percepção da dor nesses pacientes com CI ou até que exista um maior risco genético de desenvolvimento de CI em pacientes portadores desse alelo do SNP rs6746030.…”

Section: Critérios De Exclusão Niddk Para Definição De Cistite Intersunclassified

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Análise de polimorfismos de nucleotídeo único na cistite intersticial

Cassão¹

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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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Genetic polymorphisms associated with urinary tract infection in children and adults: a systematic review and meta-analysis

Yu,

Varella Pereira,

Allen-Brady

et al. 2024

American Journal of Obstetrics and Gynecology

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Polymorphism in the SCN9A Voltage-Gated Sodium Channel Gene Associated With Interstitial Cystitis/Bladder Pain Syndrome

Cited by 18 publications

References 16 publications

The Effect of SCN9A Variation on Basal Pain Sensitivity in the General Population: An Experimental Study in Young Women

The Effect of SCN9A Variation on Basal Pain Sensitivity in the General Population: An Experimental Study in Young Women

Análise de polimorfismos de nucleotídeo único na cistite intersticial

Genetic polymorphisms associated with urinary tract infection in children and adults: a systematic review and meta-analysis

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