Genetski utjecaji na ishode orijentirane na pacijente u traumatskim ozljedama mozga: Živi sistematski pregled jednonukleotidnih polimorfizama ne-apolipoproteina E.
Journal of neurotrauma
Sažetak istraživanja
Sve je više literature o utjecaju genetske varijacije na ishod traumatske ozljede mozga (TBI). Dok se značajan dio ovih publikacija fokusirao na gen apolipoproteina E (APOE), nekoliko je istraživalo utjecaj drugih polimorfizama. Preduzeli smo sistematski pregled uticaja jednonukleotidnih polimorfizama (SNP) u genima koji nisu apolipoprotein E (non-APOE) povezanim sa ishodima pacijenata kod TBI kod odraslih). Tražili smo EMBASE, MEDLINE, CINAHL i sivu literaturu od početka do početka augusta 2017. za studije genetske varijanse u odnosu na ishode pacijenata kod TBI kod odraslih. Šezdeset osam članaka je ocijenjeno podobnim za uvrštavanje u sistematski pregled. Opisani SNP-ovi bili su u sljedećim kategorijama: neurotransmiter (NT) u 23, citokin u devet, neurotrofni faktor iz mozga (BDNF) u 12, mitohondrijski geni u tri, i razni SNP-ovi u 21. Sve studije su bile zasnovane na malim grupama pacijenata i patile su od potencijalne pristranosti. Prijavljeno je da je niz SNP povezanih s genima koji kodiraju monoaminske NT, BDNF, citokine i mitohondrijalne proteine povezan s varijacijama u globalnim, neuropsihijatrijskim i bihevioralnim ishodima. Analiza tkivne, stanične i subcelularne lokacije gena koji su sadržavali proučavane SNP-ove pokazala je da se oni mogu grupirati u krvno-moždane barijere povezane, neuroprotektivne/regulatorne i neuropsihijatrijske/degenerativne grupe. Nekoliko malih studija izvještava da su različiti NT, citokini i BDNF povezani SNP-ovi povezani s varijacijama u globalnom ishodu 6-12 mjeseci nakon TBI. Povezanost ovih SNP-ova s neuropsihijatrijskim i bihevioralnim ishodima je manje jasna. Konačna procjena uloge i veličine efekta genetske varijacije u ovim genima na ishod ostaje neizvjesna, ali bi se mogla razjasniti adekvatnom studijom asocijacije na cijelom genomu uz odgovarajuće evidentiranje ishoda.
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Genetic Influences on Patient-Oriented Outcomes in Traumatic Brain Injury: A Living Systematic Review of Non-Apolipoprotein E Single-Nucleotide Polymorphisms.
There is a growing literature on the impact of genetic variation on outcome in traumatic brain injury (TBI). Whereas a substantial proportion of these publications have focused on the apolipoprotein E (APOE) gene, several have explored the influence of other polymorphisms. We undertook a systematic review of the impact of single-nucleotide polymorphisms (SNPs) in non-apolipoprotein E (non-APOE) genes associated with patient outcomes in adult TBI). We searched EMBASE, MEDLINE, CINAHL, and gray literature from inception to the beginning of August 2017 for studies of genetic variance in relation to patient outcomes in adult TBI. Sixty-eight articles were deemed eligible for inclusion into the systematic review. The SNPs described were in the following categories: neurotransmitter (NT) in 23, cytokine in nine, brain-derived neurotrophic factor (BDNF) in 12, mitochondrial genes in three, and miscellaneous SNPs in 21. All studies were based on small patient cohorts and suffered from potential bias. A range of SNPs associated with genes coding for monoamine NTs, BDNF, cytokines, and mitochondrial proteins have been reported to be associated with variation in global, neuropsychiatric, and behavioral outcomes. An analysis of the tissue, cellular, and subcellular location of the genes that harbored the SNPs studied showed that they could be clustered into blood-brain barrier associated, neuroprotective/regulatory, and neuropsychiatric/degenerative groups. Several small studies report that various NT, cytokine, and BDNF-related SNPs are associated with variations in global outcome at 6-12 months post-TBI. The association of these SNPs with neuropsychiatric and behavioral outcomes is less clear. A definitive assessment of role and effect size of genetic variation in these genes on outcome remains uncertain, but could be clarified by an adequately powered genome-wide association study with appropriate recording of outcomes.
Izvorni podaci
- DOI
- 10.1089/neu.2017.5583
- PMID
- 29799308
- PMCID
- PMC8054522
- Provjereno
- 2026-07-26
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