Abstract:
BACKGROUND:MicroRNAs (miRNAs) are important small non-coding RNA molecules that regulate gene expression in cellular processes related to the pathogenesis of cancer. Genetic variation in miRNA genes could impact their synthesis and cellular effects and single nucleotide polymorphisms (SNPs) are one example of genetic variants studied in relation to breast cancer. Studies aimed at identifying miRNA SNPs (miR-SNPs) associated with breast malignancies could lead towards further understanding of the disease and to develop clinical applications for early diagnosis and treatment. METHODS:We genotyped a panel of 24 miR-SNPs using multiplex PCR and chip-based matrix assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry (MS) analysis in two Caucasian breast cancer case control populations (Primary population: 173 cases and 187 controls and secondary population: 679 cases and 301 controls). Association to breast cancer susceptibility was determined using chi-square (X (2) ) and odds ratio (OR) analysis. RESULTS:Statistical analysis showed six miR-SNPs to be non-polymorphic and twelve of our selected miR-SNPs to have no association with breast cancer risk. However, we were able to show association between rs353291 (located in MIR145) and the risk of developing breast cancer in two independent case control cohorts (p = 0.041 and p = 0.023). CONCLUSIONS:Our study is the first to report an association between a miR-SNP in MIR145 and breast cancer risk in individuals of Caucasian background. This finding requires further validation through genotyping of larger cohorts or in individuals of different ethnicities to determine the potential significance of this finding as well as studies aimed to determine functional significance.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Chacon-Cortes D,Smith RA,Haupt LM,Lea RA,Youl PH,Griffiths LRdoi
10.1186/s12881-015-0248-0subject
Has Abstractpub_date
2015-11-17 00:00:00pages
107issn
1471-2350pii
10.1186/s12881-015-0248-0journal_volume
16pub_type
杂志文章abstract:BACKGROUND:Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies. CASE PRESENTATION:The patient was a 2-year-old boy who underwent surgery in our hospital. The right han...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0889-5
更新日期:2019-11-09 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
abstract:BACKGROUND:Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. The MHC class II transactivator (MHC2TA) is the master controller of expression of class II genes, and methylation of the promoter of this gene has been pre...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-63
更新日期:2008-07-07 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:Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-88
更新日期:2013-09-03 00:00:00
abstract:BACKGROUND:Genetic variations in the calpain-10 gene (CAPN10), in particular the at-risk diplotype (112/121), were previously implicated with increased risk of type 2 diabetes (T2D). METHODS:We examined the association of CAPN10 UCSNP-43 (rs3792267), UCSNP-19 (rs3842570), and UCSNP-63 (rs5030952) SNPs with T2D in 917 ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-75
更新日期:2010-05-15 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:Analyses of Expressed Sequence Tags (ESTs) databases suggest that most human genes have multiple alternative splice variants. The alternative splicing of pre-mRNA is tightly regulated during development and in different tissue types. Changes in splicing patterns have been described in disease states. Recentl...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-149
更新日期:2009-12-31 00:00:00
abstract:BACKGROUND:Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01087-x
更新日期:2020-07-18 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: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
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: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
abstract:BACKGROUND:Fabry disease (FD, OMIM 301500) is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. While the progressive systemic deposition of uncleaved glycosphingolipids throughout the body is known to have protean clinical manifestation...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-3-10
更新日期:2002-10-11 00:00:00
abstract:BACKGROUND:Peutz-Jeghers syndrome (PJS) is a rare multi-organ cancer syndrome and understanding its genetic basis may help comprehend the molecular mechanism of familial cancer. A number of germ line mutations in the STK11 gene, encoding a serine threonine kinase have been reported in these patients. However, STK11 mut...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-7-73
更新日期:2006-09-30 00:00:00
abstract:BACKGROUND:Recent genome-wide association (GWA) studies have identified several unsuspected genes associated with type 2 diabetes (T2D) with previously unknown functions. In this investigation, we have examined the role of 9 most significant SNPs reported in GWA studies: [peroxisome proliferator-activated receptor gamm...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-59
更新日期:2008-07-03 00:00:00
abstract:BACKGROUND:Sequence variants in genes functioning in folate-mediated one-carbon metabolism are hypothesized to lead to changes in levels of homocysteine and DNA methylation, which, in turn, are associated with risk of cardiovascular disease. METHODS:330 SNPs in 52 genes were studied in relation to plasma homocysteine ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-150
更新日期:2011-11-21 00:00:00
abstract:BACKGROUND:Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. METHODOLOGY:In this repo...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-17
更新日期:2012-03-19 00:00:00
abstract:BACKGROUND:While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. METHODS:In this study, we report on clinica...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-0966-9
更新日期:2020-02-06 00:00:00
abstract:BACKGROUND:The Krüppel-like factor (KLF) family consists of transcription factors that can activate or repress different genes implicated in processes such as differentiation, development, and cell cycle progression. Moreover, several of these proteins have been implicated in glucose homeostasis, making them candidate ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-53
更新日期:2007-08-09 00:00:00
abstract:BACKGROUND:Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database (AGDB) using three sources of genealogies and multiple updates. In addition, we developed PedHunter...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-68
更新日期:2010-05-02 00:00:00
abstract:BACKGROUND:von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. Patients have significant morbidity and mortality secondary to vascular tumors. Disease management is centered on tumor surveillance that allows early detection and treatment. Presymptomatic genetic ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-4
更新日期:2010-01-12 00:00:00
abstract:BACKGROUND:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION:We report a 30-year-old Chinese female pat...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0765-3
更新日期:2019-02-19 00:00:00
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: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:Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0590-0
更新日期:2018-05-11 00:00:00
abstract:BACKGROUND:Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. It appears both in syndromic as well as non-syndromic forms. In the affected individual...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01038-6
更新日期:2020-05-07 00:00:00
abstract:BACKGROUND:The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. High transcranial doppler (TCD) velocities define a subgroup of children with sickle cell disease who are at increased risk for developing ischemic stroke. The ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-4-6
更新日期:2003-07-18 00:00:00
abstract:BACKGROUND:Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a 3 Mb deletion while others have a nested 1.5 Mb deletion, but rare atypical deletions have also been...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-014-0106-5
更新日期:2014-10-14 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