SNPs Previously Associated with Dupuytren's Disease Replicated in a North American Cohort

Anderson, Eric; Ye, Zhan; Caldwell, Michael D.; Burmester, James K.

doi:10.3121/cmr.2013.1199

Cited by 8 publications

(8 citation statements)

References 34 publications

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“…Since the expression of b-catenin is mainly a result of the Wnt signaling pathway, we also stained for Wnt2, Wnt4, Wnt5a, Wnt7b and WISP1, and found that Wnt4 was highly upregulated. The accumulation of b-catenin in plaques is likely to be connected to an (over)activated Wnt signaling pathway, a pathway that is known to be involved both in DD and PD [13,[21][22][23]. Unlike in DD nodules [27,28], we did not find an upregulation of Wnt7b or WISP1 in PD plaques as compared to patient-matched control tissue.…”

Section: Discussioncontrasting

confidence: 64%

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Glimpses into the molecular pathogenesis of Peyronie’s disease

et al. 2019

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Peyronie's disease (PD) is a fibroproliferative disease of the penis. Since little is known about the molecular pathogenesis of PD, we compared the biochemical make-up of PD plaques with normal tunica albuginea to clarify pathological processes in the scarred tissue. Protein and mRNA levels were measured in plaques and in unaffected pieces of the tunica albuginea. We investigated the presence of myofibroblasts, the deposition of collagens, and some key elements of Wnt and YAP1 signaling at protein level. The expression of 45 genes, all related to collagen homeostasis and extracellular matrix proteins, was quantified. In plaques, more myofibroblasts were present, and we observed an activation of Wnt signaling and YAP1 signaling. Increased levels of the collagens types I and III confirm the fibrotic nature of plaques. The mRNA ratio of collagen types III, IV, and VI to type I was increased. The expression of lysyl hydroxylase 3 was higher, whereas a decreased expression level was seen for fibronectin and cathepsin K. The biochemical composition of plaques was different from unaffected tunica albuginea: the relative and absolute abundance of various extracellular matrix proteins were changed, as well as the quality of collagen and the level of the collagen-degrading enzyme cathepsin K.

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Section: Discussioncontrasting

confidence: 64%

“…In genome-wide association studies (GWAS) on DD, a total of 26 different loci were found to be associated with the disorder, many of which were linked to Wnt-related genes [13,14]. In PD, the Wnt pathway seems to be affected as well [21], and new data have confirmed the role of Wnt in DD [22,23].…”

Section: Introductionmentioning

confidence: 99%

Glimpses into the molecular pathogenesis of Peyronie’s disease

et al. 2019

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“…Recent decades have demonstrated great discoveries, narrowing the research range of DC towards distinct molecular mechanisms. The most important finding is the role of the WNT signaling pathway in the pathogenesis of Dupuytren’s contracture [ 2 , 4 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 ]. WNT genes encode proteins responsible for extracellular signaling.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren’s Contracture

Samulėnas

Smalinskienė

Rimdeika

et al. 2021

Genes

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Dupuytren’s contracture (DC) represents a chronic fibroproliferative pathology of the palmar aponeurosis, which leads to flexion contractures of finger joints and hand disability. In recent decades, the WNT signaling pathway has been revealed to play a significant role in the manifestation and pathogenesis of DC. Our study aimed to evaluate the associations between Dupuytren’s contracture and WNT-related single-nucleotide polymorphisms: Wnt Family Member 7B (WNT7B) rs6519955 (G/T), Secreted Frizzled Related Protein 4 (SFRP4) rs17171229 (C/T) and R-spondin 2 (RSPO2) rs611744 (A/G). We enrolled 216 patients (113 DC cases and 103 healthy controls), and DNA samples were extracted from the peripheral blood. Genotyping of WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 was performed using the Real-Time PCR System 7900HT from Applied Biosystems. WNT7B rs6519955 genotype TT carriers were found to possess a higher prevalence of DC (OR = 3.516; CI = 1.624–7.610; p = 0.001), whereas RSPO2 rs611744 genotype GG appears to reduce the likelihood of the manifestation of DC nearly twofold (OR = 0.484, CI = 0.258–0.908, p = 0.024). In conclusion, SNPs WNT7B rs6519955 and RSPO2 rs611744 are associated with the development of Dupuytren’s contracture: WNT7B rs6519955 TT genotype increases the chances by 3.5-fold, and RSPO2 rs611744 genotype GG appears to attenuate the likelihood of the manifestation of DC nearly twofold. Findings of genotype distributions among DC patients and control groups suggest that SFRP4 rs17171229 is not significantly associated with development of the disease.

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“…Optamos pela exclusão dos pacientes diabéticos, mesmo não encontrando critérios bem estabelecidos de exclusão/inclusão nos vários trabalhos que associam expressão tecidual ou SNPs de MMPs à MD [34][35][36][68][69][70]78,88,89 . Um ponto importante para validar a associação entre SNPs e processos patológicos é um estudo com metodologia e desenho restritos 90,91 .…”

Section: Discussionunclassified

“…Os SNPs aqui apontados poderiam ser adicionados nessa crescente lista. Nosso estudo possui algumas limitações, como uma amostra relativamente pequena comparada aos estudos de genoma amplo, que fazem análises concomitantes de milhares de SNPs potencialmente envolvidos na MD 78,89 . Entretanto, mesmo com as dificuldades em nosso país para a realização de estudos desse porte, obtivemos resultados conclusivos.…”

Section: Discussionunclassified

Influência de polimorfismos genéticos em metaloproteinases na Moléstia de Dupuytren

Rodrigues¹

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SNPs Previously Associated with Dupuytren's Disease Replicated in a North American Cohort

Cited by 8 publications

References 34 publications

Glimpses into the molecular pathogenesis of Peyronie’s disease

Glimpses into the molecular pathogenesis of Peyronie’s disease

Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren’s Contracture

Influência de polimorfismos genéticos em metaloproteinases na Moléstia de Dupuytren

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