Abstract:
:Smoking behaviour is influenced by both genetic and environmental factors. Many years of twin and adoption studies have demonstrated that heritability is at least 50% responsible for both smoking initiation and smoking persistence. Furthermore, the extent, to which genetic and environmental factors contribute to smoking behaviour, is significantly different in men and women. Linkage analyses from several independent studies provide evidences for suggested linkage of smoking behaviour to chromosomes 1, 2, 4, 5, 6, 9, 10, 11, 14, 17, 18 and 21. However, almost none of these loci have been replicated yet. Furthermore, numerous population-based association studies have been performed to examine the effects of a number of candidate genes, such as cytochrome P450, dopamine receptor (DR) and transporter, serotonin transporter and nicotinic acetylcholine receptor, on smoking behaviour. However, many of these reports have not yet received independent confirmation. Of these candidate genes, the D2 dopamine receptor (DRD2) gene has been extensively studied. Meta-analysis of 12 reported studies showed a significantly higher prevalence of the DRD2 TaqI A1 allele in smokers than that in non-smokers (p < 0.0001; pooled OR = 1.50; 95% CI = 1.33-1.70). For other candidate genes, insufficient published studies are available to allow a meta-analysis to be performed, or meta-analysis showed no significant difference between smokers and non-smokers. More studies are necessary to determine whether these genes play a significant role in smoking behaviour.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Li MD,Ma JZ,Beuten Jdoi
10.1111/j.1399-0004.2004.00302.xsubject
Has Abstractpub_date
2004-11-01 00:00:00pages
382-92issue
5eissn
0009-9163issn
1399-0004pii
CGE302journal_volume
66pub_type
杂志文章,评审abstract::The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1...
journal_title:Clinical genetics
pub_type: 信件
doi:10.1111/cge.13820
更新日期:2020-10-01 00:00:00
abstract::A number of studies have reported on possible relationships between a hypervariable sequence near the 5' end of the insulin gene and some common diseases. Control populations within these studies appear to disobey the Hardy-Weinberg equilibrium. In this study we have ascertained the allele frequencies in 181 random in...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00609.x
更新日期:1986-10-01 00:00:00
abstract::In this report we describe the association of retinitis pigmentosa, hearing loss and vitiligo in two non-related patients. The second patient developed, in addition, an axonal polyneuritis after the age of 30. Previous reports dealing with this unusual combination of symptoms are discussed. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb02959.x
更新日期:1989-05-01 00:00:00
abstract::Most but not all epidemiologic studies have shown that lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease (CVD). Lp(a) levels are also strongly genetically influenced. The purpose of this study was to evaluate the association between Lp(a) levels in adult offspring and parental CVD mortality in 61 kind...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2001.600304.x
更新日期:2001-09-01 00:00:00
abstract::We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients an...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02366.x
更新日期:1996-09-01 00:00:00
abstract::This brief account of Woody Guthrie is instructive to clinical geneticists. It tells the story of one famous man's understanding of, and struggle with, Huntington's disease. The philatelic illustration depicts Woody Guthrie playing his guitar in the years before advancement of the disease. ...
journal_title:Clinical genetics
pub_type: 传,历史文章,杂志文章
doi:10.1034/j.1399-0004.2002.610404.x
更新日期:2002-04-01 00:00:00
abstract::Lysine methyltransferase 2D (KMT2D; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta-globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator-2-containing complex (ASCOM). Heterozygous germline mutations in the KMT2D gene...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13598
更新日期:2019-09-01 00:00:00
abstract::We report on a patient with Marfan's syndrome, with coexistent obstructive sleep hypopnea (OSH) and restrictive lung disease, complicated by respiratory insufficiency, who was successfully treated with nasal intermittent positive airway pressure (NIPPV) and oxygen. NIPPV therapy turned out to be effective on arterial ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1046/j.0009-9163.2002.00002.x
更新日期:2003-02-01 00:00:00
abstract::Metaphyseal anadysplasia (MANDP) is a rare autosomal recessive form of skeletal dysplasia characterized by normal length at birth and transitory bowing of the legs. Although several families with MANDP have been reported, homozygous mutations in the matrix metalloproteinase type 9 (MMP9) gene have been described in on...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13020
更新日期:2017-12-01 00:00:00
abstract::The parental origin of an extra chromosome in Edwards syndrome has been investigated in 23 families by the combination of the VNTR probe pERT25, two microsatellite polymorphisms for D18S34 and D18S40, and several two-allele polymorphisms. Of the 23 cases, 22 were informative, with 17 (77%) being maternal and 5 (23%) p...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03847.x
更新日期:1993-08-01 00:00:00
abstract::Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large deletion and replacement in...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.0009-9163.2004.00191.x
更新日期:2004-02-01 00:00:00
abstract::FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13715
更新日期:2020-05-01 00:00:00
abstract::In a country-wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965-1975, which covered nearly 1 million individuals, PKU was...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb00054.x
更新日期:1976-12-01 00:00:00
abstract::Mutations in the NPC1 or NPC2 gene are responsible for Niemann-Pick type C (NPC) disease (OMIM #257220), an autosomal recessive neurodegenerative lysosomal storage disorder caused by an incorrect regulation of intracellular lipid trafficking. A molecular analysis carried out in 30 unrelated patients identified 43 dist...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01504.x
更新日期:2011-07-01 00:00:00
abstract::SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnose...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12388
更新日期:2015-04-01 00:00:00
abstract::A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15 (4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1978.tb04136.x
更新日期:1978-05-01 00:00:00
abstract::Apolipoprotein B (apoB) signal peptide (sp) polymorphism was characterized by polymerase chain reaction in blood samples of 58 coronary artery disease (CAD) patients and 319 control individuals of Chinese Han ethnic origin in Taiwan. In the CAD group, 77% of the observed alleles were sp27 (sp with 27 amino acids), and...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04150.x
更新日期:1994-05-01 00:00:00
abstract::A follow-up study of 212 families for whom genetic counseling had been provided was performed to assess the effectiveness of the non-directive genetic counseling service at the Mount Sinai Medical Center in New York City. The preliminary result have been reported previously (Godmilow & Hirschhorn 1977). Of those famil...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb00106.x
更新日期:1980-01-01 00:00:00
abstract::We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth parameters of 2...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12759
更新日期:2016-07-01 00:00:00
abstract::The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, gr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12194
更新日期:2014-05-01 00:00:00
abstract::The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses with microsatellites surrounding the previously identified loci detect...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2004.00311.x
更新日期:2004-10-01 00:00:00
abstract::Hobbs et al. (N. Engl. J. Med. 317: 734-737, 1987) reported a large deletion of approximately 10 kilobases in the 5' portion of the human low-density lipoprotein (LDL) receptor gene. This deletion affects about 60% of familial hypercholesterolemia (FH) heterozygotes in the French Canadian population. We have developed...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb03194.x
更新日期:1989-10-01 00:00:00
abstract::SATB2-associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. Assessments of speech, language, and feeding-related issues were conducted among 61 individuals with SAS (median age = 86 months, range = 26 months to 29 years of age). Individuals...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13619
更新日期:2019-12-01 00:00:00
abstract::This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat],...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01743.x
更新日期:1979-04-01 00:00:00
abstract::Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelated branched-chain organic acidurias (BCOA) patients. We detected eight...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12751
更新日期:2016-09-01 00:00:00
abstract::In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.620205.x
更新日期:2002-08-01 00:00:00
abstract::Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACS II). The alpha-galactosidase A activity in the single fibroblasts was assayed in nanoliter droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb01874.x
更新日期:1983-04-01 00:00:00
abstract::Transient neonatal diabetes mellitus (TNDM) usually develops within the first few weeks of life and resolves at a median age of 3 months. In most of the cases, TNDM is caused by the over-expression of a paternally expressed imprinted PLAGL1 locus on chromosome 6q24. The most frequent manifestation other than TNDM is i...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01433.x
更新日期:2010-12-01 00:00:00
abstract::Galactokinase deficient fibroblasts are not distinguishable from galactosemic fibroblasts by a test suggested earlier by Hill & Puck (1973). They can be so distinguished by the test described here, since they are unable to incorporate radioactive galactose into TCA-insoluble material under normal conditions of incubat...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1975.tb01491.x
更新日期:1975-09-01 00:00:00
abstract::Genetic studies as well as in situ hybridisation data have strongly demonstrated that the genes coding for apoprotein(a) and plasminogen are linked and localised to chromosome 6 at band 6q26-27. We describe in this report the presence of a recombination event in a region of approximately 50 kb of DNA separating the tw...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb03966.x
更新日期:1995-06-01 00:00:00