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References | Diseases | Study aim | Research contribution |
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[77] | Schizophrenia (SZ) | Gene expression profiles of PBMCs samples were analyzed from 114 SZ and schizoaffective disorder patients versus 80 healthy controls. | DEFA4 was found to be one of the 59 genes that were significantly up-regulated in SZ patients and schizoaffective disorder patients versus controls. Moreover, a significant correlation was revealed between DEFA4 expression and gender; DEFA4 expression was therein higher in males than females. |
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[78] | Bipolar disorder (BD) and schizophrenia (SZ) | The proteomics analysis was conducted on saliva samples from 32 SZ patients, 17 patients with BD compared to 31 healthy controls. | DEFA4 has been reported as one of the eight proteins that showed elevated levels in SZ and BD patients compared with healthy subjects. |
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[80] | Post-traumatic stress disorder (PTSD) | Transcriptome profiles of blood samples from PTSD patients with high IL-6 levels (n = 16) and PTSD patients with normal IL-6 levels (n = 16) were compared with age-matched normal controls (n = 16) (all participants were women). | -DEFA4 was observed to be up-regulated in PTSD patients who have elevated levels of IL-6 compared with those who have normal levels of IL-6. A significant positive correlation was reported between DEFA4 expression and serum IL-6 levels. |
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[81] | Alzheimer’s disease (AD) and mild cognitive impairment (MCI) | Gene expression analysis was conducted on blood samples of 200 subjects with a diagnosis of early AD, 400 individuals with MCI, and nearly 200 cognitively normal individuals as the control group. | DEFA4 was one of 50 genes that have shown the most significant differences between AD and MCI compared to the control group, wherein DEFA4 was up-regulated in both AD and MCI versus controls. |
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[82] | Parkinson’s disease (PD) | To determine the genes involved in PD pathogenesis (both genetic PD or idiopathic PD) next-generation sequencing (RNA-seq) was conducted on blood samples of: (i) 20 PD patients with the G2019S mutation of the LRRK2 gene. (ii) 20 asymptomatic carriers of the mutation (iii) 20 subjects with idiopathic PD (iv) 20 controls | DEFA4 was one of the 13 common genes that were identified to have significant differential gene expression in G2019S-associated PD and idiopathic PD, wherein DEFA4 was up-regulated in both: (i) (G2019S-associated PD compared with asymptomatic carriers) (ii) (between idiopathic PD compared with controls). |
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[83] | Parkinson’s disease (PD) | To elucidate the molecular basis underlying PD, transcriptomic analyses were performed on blood samples of 72 PD patients compared to 22 healthy controls. | DEFA4 was reported as one of the top 20 aberrantly expressed genes in PD patients, DEFA4 down-regulation was found in PD patients compared to healthy controls. |
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[92] | Multiple sclerosis (MS) | Gene expression analysis was conducted on blood samples from patients with MS in remission, relapsing and healthy controls, aiming to understand the molecular mechanisms underlying MS. | DEFA4 was one of the genes that up-regulated in females with MS in remission status compared with their controls. |
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[94] | Multiple sclerosis (MS) | The study aims to analyze the post-mortem of normal-appearing white matter (NAWM) of MS patients to identify the possible gene expression pathways that affect the disease heterogeneity and HPA axis activity. | DEFA4 was one of the top ten genes that strongly connected to the module with a strong positive correlation to both severity of MS and HPA axis activity |
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[93] | Multiple sclerosis (MS) | This study aimed to identify the differentially expressed genes in CD4+ T lymphocytes of relapsing-remitting MS patients during relapse after 3–6 days of treatment with IVMP in vivo. | 11 genes were found to be the most significantly differentially expressed in CD4+ T lymphocytes of patients after treatment with IVMP. DEFA4 was one of seven genes that were highly up-regulated. |
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