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 regarding risk could be observed, and if gender differences could be seen. METHODS:Four hundred seventy-six elderly community participants were included in this study. All participants underwent a clinical examination, echocardiography, and blood sampling including PDGF-D single nucleotide polymorphism (SNP) analyses of the rs974819 A/A, G/A and G/G SNP. The follow-up time was 6.7 years. RESULTS:No specific genotype of rs974819 demonstrated increased cardiovascular mortality in the total population, however, the male group with genotypes A/A and G/A demonstrated an increased risk that persisted in a multivariate evaluation where adjustments were made for well-known cardiovascular risk factors (2.7 fold compared with the G/G genotype). No corresponding finding was observed in the female group. CONCLUSION:We report here for the first time that the genotypes G/A or A/A of the SNP rs974819 near PDGF-D exhibited a 2.7 fold increased cardiovascular mortality risk in males. Corresponding increased risk could not be observed in either the total population and thus not in the female group. However, the sample size is was small and the results should be regarded as hypothesis-generating, and thus more research in the field is recommended.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Alehagen U,Olsen RS,Länne T,Matussek A,Wågsäter Ddoi
10.1186/s12881-016-0325-zsubject
Has Abstractpub_date
2016-09-01 00:00:00pages
62issue
1issn
1471-2350pii
10.1186/s12881-016-0325-zjournal_volume
17pub_type
杂志文章abstract:BACKGROUND:Hemoglobin A1c (HbA1c) levels diagnose diabetes, predict mortality and are associated with ten single nucleotide polymorphisms (SNPs) in white individuals. Genetic associations in other race groups are not known. We tested the hypotheses that there is race-ethnic variation in 1) HbA1c-associated risk allele ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-30
更新日期:2012-04-27 00:00:00
abstract:BACKGROUND:Visceral obesity and metabolic syndrome are commonly associated with non-alcoholic fatty liver disease (NAFLD). The progression of steatosis to NASH depends on a number of metabolic and patient-related factors. The mechanisms of genetic predisposition towards the development of NASH and related fibrosis rema...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0324-0
更新日期:2016-09-05 00:00:00
abstract:BACKGROUND:Ring chromosomes are one category of structurally abnormal chromosomes that can lead to severe growth retardation and other clinical defects. Traditionally, their diagnosis and characterization has largely relied on conventional cytogenetics and fluorescence in situ hybridization, array-based comparative gen...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0206-x
更新日期:2015-07-30 00:00:00
abstract:BACKGROUND:Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION:Family members underwent audiological and imaging evaluations, including pure tone audiometry ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0511-7
更新日期:2017-12-19 00:00:00
abstract:BACKGROUND:N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0803-1
更新日期:2019-06-07 00:00:00
abstract:BACKGROUND:Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital contractures and bone fragility. This raised the question if the patients ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-152
更新日期:2011-11-22 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:Insulin like growth factor 2 (IGF2) is an imprinted gene, which has an important role in fetal growth as established in mice models. IGF2 is downregulated through hypomethylation of a differentially methylated region (DMR) in Silver Russell syndrome (SRS), characterised by growth restriction. We have previou...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-42
更新日期:2012-05-30 00:00:00
abstract:BACKGROUND:We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poisoning (DEACMP), which might provide a theoretical basis for the pathogenesis, diagnosis, and prognosis...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0931-7
更新日期:2019-12-16 00:00:00
abstract:BACKGROUND:Kidneys have an important function in blood pressure (BP) regulation and elevated BP may lead to kidney failure. Chr2p12-p13 region linked to BP traits in multiple studies harbours a potential candidate for BP and renal function, N-acetyltransferase 8 (NAT8) expressed in embryonic and adult kidney and associ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-25
更新日期:2008-04-10 00:00:00
abstract:BACKGROUND:Obesity is related to multiple cardiovascular disease (CVD) risk factors as well as CVD and has a strong familial component. We tested for association between SNPs on the Affymetrix 100K SNP GeneChip and measures of adiposity in the Framingham Heart Study. METHODS:A total of 1341 Framingham Heart Study part...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-S1-S18
更新日期:2007-09-19 00:00:00
abstract:BACKGROUND:Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. METHODS:The proband had prim...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0445-0
更新日期:2017-08-03 00:00:00
abstract:BACKGROUND:Neuron-derived orphan receptor (Nor) 1, nuclear receptor (Nur) 77, and nuclear receptor-related protein (Nurr) 1 constitute the NR4A family of orphan nuclear receptors which were recently found to modulate hepatic glucose production, insulin signalling in adipocytes, and oxidative metabolism in skeletal musc...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-77
更新日期:2009-08-14 00:00:00
abstract:BACKGROUND:The TPH2 gene encodes the enzyme responsible for serotonin (5-HT) synthesis in the Central Nervous System (CNS). Stereotypic and repetitive behaviors are influenced by 5-HT, and initial studies report an association of TPH2 alleles with childhood-onset obsessive-compulsive disorder (OCD) and with autism. GLO...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-11
更新日期:2007-03-08 00:00:00
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 polymo...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01123-w
更新日期:2020-09-21 00:00:00
abstract:BACKGROUND:PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG might lead to the loss of PMM2, which is responsible for the conv...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0902-z
更新日期:2019-11-14 00:00:00
abstract:BACKGROUND:A number of single nucleotide polymorphisms (SNPs) have been associated with broadband ultrasound attenuation (BUA) and speed of sound (SOS) as measured by quantitative ultrasound (QUS) at the calcaneus in the Framingham 100K genome-wide association study (GWAS) but have not been validated in independent stu...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-19
更新日期:2011-01-28 00:00:00
abstract:BACKGROUND:Chronic hyperglycemia confers increased risk for long-term diabetes-associated complications and repeated hemoglobin A1c (HbA1c) measures are a widely used marker for glycemic control in diabetes treatment and follow-up. A recent genome-wide association study revealed four genetic loci, which were associated...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-20
更新日期:2011-02-04 00:00:00
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: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:Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene. CASE PRESENTATION:Here, we investigate the...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01121-y
更新日期:2020-09-17 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: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:Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have b...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0581-1
更新日期:2018-05-25 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:Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family cascade screening. Many ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0176-z
更新日期:2015-05-13 00:00:00
abstract:BACKGROUND:Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inac...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-98
更新日期:2010-06-17 00:00:00
abstract:BACKGROUND:Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unk...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0591-z
更新日期:2018-05-16 00:00:00
abstract:BACKGROUND:This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute rejection in the recipients with renal transplantation. METHODS:Relevant studies were searched and iden...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析,评审
doi:10.1186/s12881-019-0847-2
更新日期:2019-06-25 00:00:00
abstract:BACKGROUND:Prostate cancer is a heterogeneous disease, meaning patients would benefit from different treatment strategies based on their molecular stratification. In recent years, several genomic studies have identified prostate cancers with defects in DNA repair genes. It is known that the PARP inhibitor, olaparib, ha...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0703-9
更新日期:2018-10-17 00:00:00