Abstract:
:A DNA repair protein, X-ray repair cross-complementing group 1 (XRCC1), has been implicated in the development of multiple cancers, including non-Hodgkin lymphoma (NHL). Recent studies evaluating the association between XRCC1 polymorphisms and NHL risk have been published. However, the published studies are controversial. This systematic review and meta-analysis of case-control studies aimed to evaluate the association between three single nucleotide polymorphisms (SNPs) of XRCC1, Arg194Trp, Arg280His and Arg399Gln, with risk for developing NHL. We conducted a comprehensive literature search using PubMed, Embase, and the Cochrane Library databases for relevant studies regarding the association between XRCC1 SNPs and NHL risk. Thirteen published case-control studies involving the Arg194Trp (3897 cases and 5371 controls), Arg280His (2140 cases and 3158 controls) and Arg399Gln (2722 cases and 4856 controls) SNPs were selected for meta-analysis. The Arg194Trp SNP was associated with increased NHL risk within the Asian population, and increased diffuse large B cell lymphoma (DLBCL) risk within the overall population under dominant model. The Arg399Gln SNP was associated with decreased risk for NHL and DLBCL under heterozygous and dominant models of inheritance. The Arg280His SNP was not associated with NHL risk by overall or subgroup analyses.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Li Y,Bai O,Cui J,Li Wdoi
10.1016/j.ejmg.2015.12.011subject
Has Abstractpub_date
2016-02-01 00:00:00pages
91-103issue
2eissn
1769-7212issn
1878-0849pii
S1769-7212(15)30066-5journal_volume
59pub_type
杂志文章,meta分析,评审abstract::Copy number variations (CNVs) of the CNTN6 gene - a member of the contactin gene superfamily - have been previously proposed to have an association with neurodevelopmental and autism spectrum disorders. However, no functional evidence has been provided to date and phenotypically normal and mildly affected carriers com...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.02.008
更新日期:2020-01-01 00:00:00
abstract::Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no si...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2013.10.007
更新日期:2014-01-01 00:00:00
abstract::Chromosomal imbalance of the 17q12 region (which includes the HNF1B transcription factor) has recently emerged as a frequent condition. 17q12 deletion was found in patients with various renal abnormalities, diabetes mellitus (MODY type 5), genital tract or liver test abnormalities, while 17q12 duplication was identifi...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2011.03.010
更新日期:2011-07-01 00:00:00
abstract::Bilateral multilocular radiolucencies of the mandible are the main feature of cherubism (OMIM #118400), a rare autosomal dominant disorder primarily affecting the jaw. Typically, symmetrical swelling of the lower face is evident from around three years of age and increases until puberty. The underlying radiolucent les...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2012.12.008
更新日期:2013-03-01 00:00:00
abstract::Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c.115 C > T (p.Gln39*)] in a girl with severe neonatal onset epile...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.103970
更新日期:2020-09-01 00:00:00
abstract::Germline mutations in the WT1 gene have been identified in some families with Wilms tumor. Recently, the CTR9 gene was found to be mutated in three families with Wilms tumor, thus representing a novel predisposition gene for this disease. We identified a family with a history of Wilms tumor characterized by three affe...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2017.12.010
更新日期:2018-05-01 00:00:00
abstract:PURPOSE:To investigate whether increased parental age is associated with an increased risk for de novo copy number variant (CNV) formation in offspring. METHODS:CNV calls from 2323 individuals referred to Signature Genomic Laboratories for clinical microarray-based comparative genomic hybridization were investigated; ...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103829
更新日期:2020-04-01 00:00:00
abstract::The increasing use of whole-genome array screening has revealed the important role of DNA copy-number variations in the pathogenesis of neurodevelopmental disorders and several recurrent genomic disorders have been defined during recent years. However, some variants considered to be pathogenic have also been observed ...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.11.005
更新日期:2011-03-01 00:00:00
abstract::Apparently balanced chromosome abnormalities are occasionally associated with mental retardation (MR). These balanced rearrangements may disrupt genes. However, the phenotype may also be caused by small abnormalities present at the breakpoints or elsewhere in the genome. Conventional karyotyping is not instrumental fo...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.06.003
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. METHODS:A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test an...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.104001
更新日期:2020-09-01 00:00:00
abstract::Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adul...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2017.07.008
更新日期:2017-10-01 00:00:00
abstract::Human infertility is a healthcare problem that has a worldwide impact. Genetic causes of human infertility include chromosomal aneuploidies and rearrangements and single-gene defects. The sex chromosomes (X and Y) are critical players in human fertility since they contain several genes essential for sex determination ...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2018.10.012
更新日期:2019-09-01 00:00:00
abstract::An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spast...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.103848
更新日期:2020-04-01 00:00:00
abstract::Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated mal...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103805
更新日期:2020-04-01 00:00:00
abstract::Pantothenate kinase-associated neurodegeneration (PKAN) disease is an autosomal recessive neurodegenerative disorder with iron storage in the brain due to PANK2 gene mutations. Brain magnetic resonance imaging (MRI) shows the typical "eye-of-the-tiger" sign. The aim of the present study was to describe clinical, MRI a...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2013.08.007
更新日期:2013-11-01 00:00:00
abstract::Hereditary spastic paraplegia (HSP) represents a large group of neurological disorders characterized by progressive spasticity of the lower limbs. One subtype of HSP shows an autosomal recessive form of inheritance with thin corpus callosum (ARHSP-TCC), and displays genetic heterogeneity with four known loci. We ident...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.10.006
更新日期:2011-01-01 00:00:00
abstract::We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this mutation are found in cases from the literature, especially several with 10p15.3 deletions, harbouring ZMYND11. Additional reports of ZMYND11 mutations in cases with syndrom...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2014.09.002
更新日期:2014-11-01 00:00:00
abstract::The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 ge...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2011.12.002
更新日期:2012-02-01 00:00:00
abstract::We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heter...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2008.10.004
更新日期:2009-01-01 00:00:00
abstract::Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy enco...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.07.018
更新日期:2019-03-01 00:00:00
abstract::Synpolydactyly (SPD) is an autosomal dominant limb malformation caused by mutations in the gene HOXD13. We investigated a Chinese family in which three individuals across three generations were affected with distinctive limb malformations. We extracted genomic DNA from the affected and three unaffected individuals fro...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.10.007
更新日期:2011-03-01 00:00:00
abstract::We report a 35-year-old male with a ring chromosome 12 originally diagnosed 20 years prior to presentation with an ischemic stroke. Array CGH analysis revealed a sub-microscopic microdeletion and microduplication within 12p13.3 and a microdeletion in 12q24.33. FISH analysis further revealed that the duplication was in...
journal_title:European journal of medical genetics
pub_type: 信件
doi:10.1016/j.ejmg.2010.09.014
更新日期:2011-01-01 00:00:00
abstract::Chromosome 15q duplication syndrome (Dup15q syndrome) is a neurodevelopmental disorder involving copy number gains of the maternal chromosome 15q11.2-q13 region, characterized by intellectual disability, developmental delay, autism spectrum disorder (ASD), and epilepsy. Gastrointestinal (GI) problems in Dup15q syndrom...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2014.12.012
更新日期:2015-03-01 00:00:00
abstract::We report on a 3-year-old girl with psychomotor retardation, cardiopathy, strabismus, umbilical hernia, and facial dysmorphism in whom a de novo unbalanced submicroscopic translocation (10p;18q) was found by MLPA (Multiplex Ligation dependent Probe Amplification) and FISH analyses. Additional FISH studies with locus s...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2006.01.001
更新日期:2006-09-01 00:00:00
abstract::Prenatal testing for fetal genetic traits and risk of obstetrical complications is essential for maternal-fetal healthcare. The migration of extravillous trophoblast (EVT) cells from the placenta into the reproductive tract and accumulation in the cervix offers an exciting avenue for prenatal testing and monitoring pl...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103690
更新日期:2019-08-01 00:00:00
abstract::We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previo...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.03.009
更新日期:2018-08-01 00:00:00
abstract::We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in add...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.03.009
更新日期:2010-07-01 00:00:00
abstract::Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2013.01.010
更新日期:2013-04-01 00:00:00
abstract::Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a history of infantile o...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2012.10.010
更新日期:2013-01-01 00:00:00
abstract::We report a child with a 785kb deletion of the 3p14.1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis. FOXP1 and FOXP2 are transcription factors containing a polyglutamine tract and a forkhead DNA binding domain. They both play a role i...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2009.03.012
更新日期:2009-03-01 00:00:00