Abstract:
BACKGROUND:Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety, the aim of this exploratory study was to investigate possible relationships between genetic polymorphisms in genes important for the regulation and activity of the HPA axis and self-assessed anxiety in healthy individuals. METHODS:DNA from 72 healthy participants, 37 women and 35 men, were included in the analyses. Their DNA was extracted and analysed for the following Single Nucleotide Polymorphisms (SNP)s: rs41423247 in the NR3C1 gene, rs1360780 in the FKBP5 gene, rs53576 in the OXTR gene, 5-HTTLPR in SLC6A4 gene and rs6295 in the HTR1A gene. Self-assessed anxiety was measured by the State and Trait Anxiety Inventory (STAI) questionnaire. RESULTS:Self-assessed measure of both STAI-S and STAI-T were significantly higher in female than in male participants (p = 0.030 and p = 0.036, respectively). For SNP rs41423247 in the NR3C1 gene, there was a significant difference in females in the score for STAI-S, where carriers of the G allele had higher scores compared to the females that were homozygous for the C allele (p < 0.01). For the SNP rs53576 in the OXTR gene, there was a significant difference in males, where carriers of the A allele had higher scores in STAI-T compared to the males that were homozygous for the G allele (p < 0.01). CONCLUSION:This study shows that SNP rs41423247 in the NR3C1 gene and SNP rs53576 in the OXTR gene are associated with self-assessed anxiety in healthy individuals in a gender-specific manner. This suggests that these SNP candidates are possible genetic risk-factors for anxiety.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Lindholm H,Morrison I,Krettek A,Malm D,Novembre G,Handlin Ldoi
10.1186/s12881-020-01123-wsubject
Has Abstractpub_date
2020-09-21 00:00:00pages
184issue
1issn
1471-2350pii
10.1186/s12881-020-01123-wjournal_volume
21pub_type
杂志文章abstract:BACKGROUND:Vitamin D has been shown to exert manifold immunomodulatory effects. Type 1 diabetes mellitus (T1DM) is regarded to be immune-mediated and vitamin D prevents the development of diabetes in the NOD mouse. We studied the association between T1DM and the initiation codon polymorphism in exon 2 of the vitamin D ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-2-7
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND:Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive value of TSP-1. METHODS:Twenty-four studies with a total of 2379 patients were included. A comprehe...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-020-01073-3
更新日期:2020-06-29 00:00:00
abstract:BACKGROUND:The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood. METHODS:To determine the frequency of TMEM43 mutations as a cause of ARVC, we scree...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-21
更新日期:2012-03-29 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:Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC)...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0870-3
更新日期:2019-08-16 00:00:00
abstract:BACKGROUND:Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We examined whether these glucocorticoid receptor gene polymorphisms are associated with growth in fetal an...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-39
更新日期:2010-03-03 00:00:00
abstract:BACKGROUND:Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0337-8
更新日期:2016-10-12 00:00:00
abstract:BACKGROUND:Several genome-wide association studies (GWAS) for serum fasting glucose levels have reported HHEX as possibly causal. The objective of this study was to examine the joint effect of smoking on the association of diabetes with the HHEX rs5015480 polymorphism among Korean subjects. METHODS:This replication st...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0582-0
更新日期:2018-05-02 00:00:00
abstract:BACKGROUND:Mitochondrial disorders are difficult to diagnose due to extreme genetic and phenotypic heterogeneities. METHODS:We explored the utility of targeted next-generation sequencing for the diagnosis of mitochondrial disorders in 148 patients submitted for clinical testing. A panel of 447 nuclear genes encoding m...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-118
更新日期:2013-11-11 00:00:00
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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:Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. CASE PRESENTATION:The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac malformations were d...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01012-2
更新日期:2020-04-03 00:00:00
abstract:BACKGROUND:The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for their association with renal disease risk. However, studies have largely been ambiguous. METHODS:Met...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-019-0932-6
更新日期:2019-12-10 00:00:00
abstract:BACKGROUND:The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate (ADP) and with increased risk for peripheral arterial disease. No data are available on its asso...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-59
更新日期:2007-09-05 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:Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. METHODS:Literature-based data mining was conducted to identify genes, molecule, and cell processes linked to both hyperkalemia and ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01099-7
更新日期:2020-10-22 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0887-7
更新日期:2019-09-04 00:00:00
abstract:BACKGROUND:Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (RyR2) gene. We sought to identify mutations in genes affecting cardiac calcium cycling in patients with CPVT and in less typical familial exercise-r...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-12
更新日期:2009-02-12 00:00:00
abstract:BACKGROUND:Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mut...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01129-4
更新日期:2020-09-29 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-98
更新日期:2012-10-26 00:00:00
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pub_type: 杂志文章
doi:10.1186/s12881-020-01160-5
更新日期:2020-11-10 00:00:00
abstract:BACKGROUND:Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke. METHODS:we firstly conducted large-scale literature based disease-gene relationship data analysis to explore the genes implicated with DVT and stroke. F...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01108-9
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journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-7-41
更新日期:2006-04-28 00:00:00
abstract:BACKGROUND:Single Nucleotide Polymorphisms (SNPs) identified in Genome Wide Association Studies (GWAS) have generally moderate association with related complex diseases. Accordingly, Multilocus Genetic Risk Scores (MGRSs) have been computed in previous studies in order to assess the cumulative association of multiple S...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0186-x
更新日期:2015-06-25 00:00:00
abstract:BACKGROUND:Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-7-35
更新日期:2006-04-05 00:00:00
abstract:BACKGROUND:Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been reported, structural abnormalities in this gene are rare. We here describe a female OTCD case ca...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0733-3
更新日期:2018-12-12 00:00:00
abstract:BACKGROUND:Epidemiological studies have suggested that variants on adiponectin (ADIPOQ) and its receptor ADIPOR1 (adiponectin receptor 1) are associated with colorectal cancer (CRC) risk; however, the results were inconclusive. The aim of the study was to evaluate the associations between the variants on ADIPOQ and ADI...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-014-0137-y
更新日期:2014-12-17 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0678-6
更新日期:2018-09-10 00:00:00
abstract:BACKGROUND:This study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han population sample. METHODS:We carried out a case-control study of 415 patients with SLE and 470 h...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0405-8
更新日期:2017-04-20 00:00:00
abstract:BACKGROUND:Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in IGF1 gene, rs2195239 and rs2162679 attracted many attentions. So we perform a meta-analysis to de...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-019-0749-3
更新日期:2019-01-17 00:00:00
abstract:BACKGROUND:Changes in the density and expression of histamine receptors (HRH) have been detected in Parkinson's disease (PD) patients, and HRH antagonists bring about improvements in motor and other symptoms, thus suggesting that HRH play a role in the clinical response of PD patients. This study is aimed to analyse po...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-15
更新日期:2008-03-17 00:00:00