The Influence ofBMXGene Polymorphisms on Clinical Symptoms after Mild Traumatic Brain Injury

Abstract

Mild traumatic brain injury (mTBI) is one of the most common neurological disorders. Most patients diagnosed with mTBI could fully recover, but 15% of patients suffer from persistent symptoms. In recent studies, genetic factors were found to be associated with recovery and clinical outcomes after TBI. In addition, results from our previous research have demonstrated that the bone marrow tyrosine kinase gene in chromosome X (BMX), a member of the Tec family of kinases, is highly expressed in rats with TBI. Therefore, our aim in this study was to identify the association between genetic polymorphisms of BMX and clinical symptoms following mTBI. Four tagging single nucleotide polymorphisms (tSNPs) of BMX with minimum allele frequency (MAF) >1% were selected from the HapMap Han Chinese database. Among these polymorphisms, rs16979956 was found to be associated with the Beck anxiety inventory (BAI) and dizziness handicap inventory (DHI) scores within the first week after head injury. Additionally, another SNP, rs35697037, showed a significant correlation with dizziness symptoms. These findings suggested that polymorphisms of the BMX gene could be a potential predictor of clinical symptoms following mTBI.

Genetic Influences on Patient-Oriented Outcomes in Traumatic Brain Injury: A Living Systematic Review of Non-Apolipoprotein E Single-Nucleotide Polymorphisms

“…Study design varied. Fifty-four publications described prospective cohort studies 16 , 17 , 19–24 , 26 – 31 , 34 , 35 , 37 , 38 , 40–44 , 46 – 53 , 55 , 57–64 , 66 – 69 , 71 , 73–80 , 83 Fourteen studies were retrospective cohort studies on banked DNA samples 18 , 25 , 32 , 33 , 36 , 39 , 45 , 54 , 56 , 65 , 70 , 72 , 82 , 83 Study location also varied significantly, with the most commonly reported country of origin being the United States ( n = 43). Twenty-six studies included fewer than 100 patients 17 , 19 , 24 , 26 , 27 , 32 , 35 , 37 , 40 , 42–44 , 47 , 50–53 , 57 , 67–69 , 71 , 74 , 76 , 78 , 80 Seven studies were published conference abstracts.…”

“…Ten studies documented the relationship between various SNPs and nonglobal patient outcomes (i.e., neuropsychiatric, behavioral, and other). 57 , 60 , 66 , 67 , 69 , 71–73 , 82 , 83 The targets for these polymorphisms included: ACE, 57 various oxytocin SNPs, 66 PERIOD3, 67 ATP binding cassette, 60 nitric oxide synthase-3 (NOS3), 69 alpha synuclein (SNCA), 71 kidney and brain expressed protein (KIBRA), 72 BMX, 73 methyenetetrahydrofolate reductase (MTHFR), 82 and adenosine A1 receptor. 83 Full details can be found in Supplementary Appendix 9 .…”

“…[57][58][59][60][61][62][63][64][65][66][67][68][69][70][71][72][73][80][81][82][83] Study design varied. Fifty-four publications described prospective cohort studies 16,17,[19][20][21][22][23][24][26][27][28][29][30][31]34,35,37,38,[40][41][42][43][44][46][47][48][49][50][51][52][53]…”

Intimate Partner Violence and Traumatic Brain Injury

“…Single nucleotide polymorphism results from a substitution, deletion, or insertion of a base in the genetic code. [42][43][44][45][46] The 2 most studied types of epigenetic changes that influence recovery from TBI (often in animal models) involve methylation, when a molecule of DNA is capped by a methyl group that prevents transcription (essentially turning the gene "off"). Emerging research on combat veterans associates PTSD with decreased amounts of methylation (hypomethylation) on the promoter region of glucocorticoid receptor genes, although there was no controlling for the confounding variable of TBI in this sample.…”

Insight into Traumatic Brain Injury from Intimate Partner Violence: A Grounded Theory Study

“…SNP results from a substitution, deletion, or insertion of a base in the genetic code. [42][43][44][45][46] The two most studied types of epigenetic changes that influence recovery from TBI (often in animal models) involves methylation, when a molecule of DNA is capped by a methyl group that prevents transcription (essentially turning the gene "off").…”