Abstract:
BACKGROUND:Despite the important role of the nerve growth factor in the survival and maintenance of neurons in ischemic stroke, data regarding the relationships between variations in the encoding gene and stroke are lacking. In the present study, we evaluated the association of the functional polymorphisms in NGF (rs6330) and NGFR (rs2072446 and rs734194) genes with ischemic stroke in an Armenian population. METHODS:In total, 370 unrelated individuals of Armenian nationality were enrolled in this study. Genomic DNA samples of patients and healthy controls were genotyped using polymerase chain reaction with sequence-specific primers. RESULTS:The results obtained indicate that the minor allele of rs6330 (P corr = 2.4E-10) and rs2072446 (P corr = 0.02) are significantly overrepresented in stroke group, while the minor allele of rs734194 (P corr = 8.5E-10) was underrepresented in diseased subjects. Single nucleotide polymorphisms in NGF gene (rs6330) and NGFR gene (rs2072446 and rs734194) are associated with the disease. Furthermore, it was shown that the carriage of the NGF rs6330*T minor allele is associated with increased infarct volume and higher risk of recurrent stroke. CONCLUSIONS:In conclusion, our findings suggest that the NGF rs6330*T and NGFR rs2072446*T minor alleles might be nominated as a risk factor for developing ischemic stroke and NGFR rs734194*G minor allele as a protective against this disease at least in Armenian population.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Stepanyan A,Zakharyan R,Simonyan A,Tsakanova G,Arakelyan Adoi
10.1186/s12881-018-0551-7subject
Has Abstractpub_date
2018-03-02 00:00:00pages
33issue
1issn
1471-2350pii
10.1186/s12881-018-0551-7journal_volume
19pub_type
杂志文章abstract:BACKGROUND:Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between intron 22 homologous region 1 (int22h1) and 2 (int22h2), which, in addition to int22h3, are also responsible for inversions disrupting the F8 gene in hemoph...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0157-2
更新日期:2015-03-14 00:00:00
abstract:BACKGROUND:DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous system damage in different neurodegenerative disorders including Alzheimer's disease and Parkinson's ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-105
更新日期:2009-10-13 00:00:00
abstract:BACKGROUND:Elastogenesis of elastic extracellular matrix (ECM) which was recognized as a major component of blood vessels has been believed for a long time to play only a passive role in the dynamic vascular changes of typical hypertension. Emilin1 gene participated in the transcription of ECM's formation and was recog...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-118
更新日期:2009-11-18 00:00:00
abstract:BACKGROUND:As cyclin-dependent kinase 5 (CDK5) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examined the contribution of this gene to the susceptibility for AD. METHODS:We examined genetic variations of CDK5 by gen...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-68
更新日期:2009-07-17 00:00:00
abstract:BACKGROUND:Autism is a complex, heterogeneous, behaviorally-defined disorder characterized by disruptions of the nervous system and of other systems such as the pituitary-hypothalamic axis. In a previous genome wide screen, we reported linkage of autism with a 1.2 Megabase interval on chromosome 5q31. For the current s...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-74
更新日期:2007-12-06 00:00:00
abstract:BACKGROUND:The lectin-like oxidized LDL receptor LOX-1 (encoded by OLR1) is believed to play a key role in atherogenesis and some reports suggest an association of OLR1 polymorphisms with myocardial infarction (MI). We tested whether single nucleotide polymorphisms (SNPs) in OLR1 are associated with clinically signific...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-23
更新日期:2008-04-02 00:00:00
abstract:BACKGROUND:Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-1
更新日期:2013-01-08 00:00:00
abstract:BACKGROUND:Hereditary spherocytosis (HS) is a common type of hereditary hemolytic anemia. According to the current diagnostic criteria of HS, patients with a family history of HS, typical clinical features and laboratory investigations could be diagnosed without the requirement of any additional tests, including geneti...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0826-7
更新日期:2019-05-24 00:00:00
abstract:BACKGROUND:Chronic kidney disease progression has been linked to pro-inflammatory cytokines and markers of inflammation. These markers are also elevated in end-stage renal disease (ESRD), which constitutes a serious public health problem. OBJECTIVE:To investigate whether single nucleotide polymorphisms (SNPs) located ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-58
更新日期:2012-07-20 00:00:00
abstract:BACKGROUND:Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0585-x
更新日期:2018-05-08 00:00:00
abstract:BACKGROUND:This study was aimed to investigate the regulatory role of microRNA-210 (miRNA-210) on the progression of liver cancer and Hepatitis B virus (HBV)-associated liver cancer. METHODS:The expression of miRNA-210 was detected in liver tissues of HBV-associated cirrhosis and liver cancer, and in HepG2 and HepG2.2...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-0974-9
更新日期:2020-03-06 00:00:00
abstract:BACKGROUND:The relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past association studies yielding inconsistent and conflicting results. One possibility is that examination of a s...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-014-0093-6
更新日期:2014-09-09 00:00:00
abstract:BACKGROUND:KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). METHODS:Here, we report a new case of TMBTS diagnosed in a L...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0304-4
更新日期:2016-06-10 00:00:00
abstract:BACKGROUND:Asthma genetics has been extensively studied and many genes have been associated with the development or severity of this disease. In contrast, the genetic basis of allergic rhinitis (AR) has not been evaluated as extensively. It is well known that asthma is closely related with AR since a large proportion o...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-51
更新日期:2013-05-10 00:00:00
abstract:BACKGROUND:Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. CASE ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0165-2
更新日期:2015-04-11 00:00:00
abstract:BACKGROUND:Although vitamin D receptor (VDR) polymorphisms have been shown to be associated with abnormal glucose metabolism, the reported polymorphisms are unlikely to have any biological consequences. The VDR gene has two potential translation initiation sites. A T-to-C polymorphism has been noted in the first ATG (f...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-2-2
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND:Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer. METHODS:This case-control study included 209 small cell lung cancer patients (S...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0762-6
更新日期:2019-02-08 00:00:00
abstract:BACKGROUND:Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various sev...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-5-21
更新日期:2004-08-13 00:00:00
abstract:BACKGROUND:The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR)...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0235-5
更新日期:2015-10-05 00:00:00
abstract:BACKGROUND:Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessiv...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0404-9
更新日期:2017-05-03 00:00:00
abstract:BACKGROUND:Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japanese extended family with NDI caused by an 11.2-kb deletion that includes the entire AVPR2 locus and...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-42
更新日期:2008-05-20 00:00:00
abstract:BACKGROUND:Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent associat...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0278-2
更新日期:2016-04-07 00:00:00
abstract:BACKGROUND:Proper expression and functioning of transcription factors (TFs) are essential for regulation of different traits and thus could be crucial for the development of complex diseases. Subjects with Down syndrome (DS) have a higher incidence of acute lymphoblastic leukemia (ALL) while solid tumors, like breast c...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-12
更新日期:2013-01-23 00:00:00
abstract:BACKGROUND:Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression level ratio of the soluble (sCTLA-4) to full length CTLA-4 (flCTLA-4) isoforms. The aims of our s...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-3
更新日期:2007-02-06 00:00:00
abstract:BACKGROUND:Platelet-derived growth factor (PDGF) D has been reported to be active in fibroblasts, and in areas of myocardial infarction. In this longitudinal study we evaluated the association between PDGF-D polymorphism and cardiovascular mortality, and attempted to discover whether specific genotype differences regar...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0325-z
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaicism in cell phenotype...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0309-z
更新日期:2016-07-19 00:00:00
abstract:BACKGROUND:Preterm birth (PTB) is a complex disorder associated with significant neonatal mortality and morbidity and long-term adverse health consequences. Multiple lines of evidence suggest that genetic factors play an important role in its etiology. This study was designed to identify genetic variation associated wi...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-77
更新日期:2013-07-26 00:00:00
abstract:BACKGROUND:It is generally accepted that genetic factors play a role in susceptibility to both leprosy per se and leprosy type, but only few studies have tempted to quantify this. Estimating the contribution of genetic factors to clustering of leprosy within families is difficult since these persons often share the sam...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-6-40
更新日期:2005-11-24 00:00:00
abstract:BACKGROUND:In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through the up-regulation of the Brain (B) isoform, a compensatory mechanism that does not appear to occur in the heart of affected individuals. METHODS:We qu...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-20
更新日期:2012-03-28 00:00:00
abstract:BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perraul...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01002-4
更新日期:2020-03-31 00:00:00