2017
DOI: 10.1186/s12864-017-3964-3
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Identification of candidate protective variants for common diseases and evaluation of their protective potential

Abstract: BackgroundHuman polymorphisms with derived alleles that are protective against disease may provide powerful translational opportunities. Here we report a method to identify such candidate polymorphisms and apply it to common non-synonymous SNPs (nsSNPs) associated with common diseases. Our study also sought to establish which of the identified protective nsSNPs show evidence of positive selection, taking this as indirect evidence that the protective variant has a beneficial effect on phenotype. Further, we per… Show more

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Cited by 20 publications
(24 citation statements)
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“…The role of Plcg2 in these neurons is unknown. By analogy with Plcg1 function in neurons, expression of Plcg2 in granule cells may be relevant for synaptic transmission and plasticity via induction of hippocampal long-term potentiation LTP (Yang et al, 2017;Horn et al, 2013). Given the involvement of the dentate gyrus in pattern separation -distinction of closely related memories-Plcg2 expression might be important for mnemonic functions.…”
Section: Plcg2 Is Expressed In Microglia Cells Throughout the Brainmentioning
confidence: 99%
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“…The role of Plcg2 in these neurons is unknown. By analogy with Plcg1 function in neurons, expression of Plcg2 in granule cells may be relevant for synaptic transmission and plasticity via induction of hippocampal long-term potentiation LTP (Yang et al, 2017;Horn et al, 2013). Given the involvement of the dentate gyrus in pattern separation -distinction of closely related memories-Plcg2 expression might be important for mnemonic functions.…”
Section: Plcg2 Is Expressed In Microglia Cells Throughout the Brainmentioning
confidence: 99%
“…Although both enzymes are important for regulation of specific responses of specialised cells of the immune system, they show different cell-type expression and are relevant in very different medical conditions (Koss et al, 2014). PLCG1 is ubiquitously expressed, and mutations are associated with some forms of cancers, such as cutaneous T cell lymphoma (Bunney and Katan, 2010;Vaqué et al, 2014), but also neuropsychiatric disorders (Yang et al, 2017). PLCγ2 is predominantly expressed in the bone marrow and lymphoid organs (Human Protein Atlas available from www.proteinatlas.org; Mao et al, 2006), and PLCG2 variants cause inherited immune disorders designated as PLAID (PLCG2-associated antibody deficiency and immune dysregulation; Ombrello et al, 2012) and APLAID (autoinflammatory PLAID; Zhou et al, 2012).…”
Section: Introductionmentioning
confidence: 99%
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“…Although most of the research performed to date focus on disease‐causing genetic variants and on genetic profiles related to a guarded prognosis, the recognition of the full spectrum of susceptibility genotypes offers a broader understanding of the complex pathways that drive to the neoplastic transformation. In fact, several recent reports emphasize the importance of cancer‐preventive genetic variants in guiding the clinical decision process and as a valuable therapeutic target …”
Section: Discussionmentioning
confidence: 99%
“…More encouragingly, owing to the continuing progress in the next-generation sequencing technologies and high-throughput genotyping platforms, it is becoming more feasible and efficient to pursue such goals than ever before. Similar work aiming to identify general human disease-protective variants has been emerging, including those targeting breast cancer [ 5 ], type 2 diabetes, multiple sclerosis and rheumatoid arthritis [ 6 ]. Therefore, efforts towards identification and characterization of disease-protective SNPs would be increasingly promising in the near future.…”
mentioning
confidence: 99%