SNPMiner Trials by Shray Alag


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Report for SNP rs17782313

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Retrospective Evaluation of Prognostic and/or Predictive Profile of Melanocortin Receptor-4 Gene Polymorphisms in Patient With a Diagnosis of Glioblastoma Treated With Upfront Concomitant Radio-chemotherapy or Chemotherapy

Glioblastoma (GBM) accounts for approximately 50% of all glioma and among these tumors, are the most malignant. The cells of origin of glioma are still undefined, but the most putative target cells include astrocytes, neural stem cells, and oligodendrocyte precursor cells. The current standard of care for patients with newly diagnosed GBM includes temozolomide and radiotherapy . Melanocortins are peptides with well-recognized anti-inflammatory and neuroprotective activity. Of the five known melanocortin receptors (MCRs), only subtype 4 is present in astrocytes and it is expressed predominantly in the brain. No data are currently available on MC4R gene polymorphisms and gliomas or their relationship with radiotherapy or chemotherapy. Aim. Given the association of MC4R with antiinflammatory activity, neuroprotection, induction of neural stem/progenitor cell proliferation in brain hypoxia, and prevention of astrocyte apoptosis, the aim of this study is to retrospectively evaluate the possible prognostic/predictive role of the MC4R SNPs on GBM therapy.

NCT02458508 Glioblastoma
MeSH: Glioblastoma
HPO: Glioblastoma multiforme

The Single Nucleotide Polymorphisms (SNPs) rs17782313 of the MC4R gene have shown an effect on Body Mass Index (BMI) in different populations; and a direct role in the interaction between Fat Mass and Obesity Associated (FTO) and MC4R gene polymorphisms in breast cancer development has been recently demonstrated.

Primary Outcomes

Description: progression-free survival in GBM patients with different MC4R genotypes and treated with combined radiotherapy and temozolomide

Measure: progression-free survival

Time: 12 months

Secondary Outcomes

Description: overall survival in GBM patients with different MC4R genotypes and treated with combined radiotherapy and temozolomide

Measure: overall survival

Time: 24 months


HPO Nodes


Glioblastoma multiforme
Genes 23
FAN1 APC BMPR1A KRAS BRCA2 RPS20 MLH1 MSH2 MSH6 EPCAM PMS2 MLH1 MLH3 PMS2 PMS1 MSH6 TP53 MSH2 TGFBR2 PIK3CA SEMA4A ERBB2 IDH1