American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics最新文献_第6页

Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder. 类固醇硫酸酯酶(STS)基因与注意缺陷多动障碍的关系。

IF 2.8

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Pub Date : 2008-12-05 DOI: 10.1002/ajmg.b.30873

K J Brookes, Z Hawi, A Kirley, E Barry, M Gill, L Kent

{"title":"Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder.","authors":"K J Brookes, Z Hawi, A Kirley, E Barry, M Gill, L Kent","doi":"10.1002/ajmg.b.30873","DOIUrl":"https://doi.org/10.1002/ajmg.b.30873","url":null,"abstract":"Attention deficit hyperactivity disorder (ADHD) is the most common behavioral disorder affecting children worldwide. The male bias in the prevalence of the disorder, suggests that some susceptibility genes may lie on the X chromosome. In this study we present evidence for a role of the X-linked steroid sulfatase (STS) gene and neurosteroids in the development of ADHD. Previously it has been observed that probands with ADHD have lower serum concentrations of the neurosteroids DHEA, which is synthesized from DHEA-S by STS. In further support, boys that suffer from XLI, a skin disorder caused by the deletion of the STS gene, have higher rates of ADHD, in particular the inattentive subtype. In a moderately sized sample of ADHD families (N = 384), we genotyped seven single nucleotide polymorphisms, tagging the entire gene. TDT analysis of the data yielded two polymorphisms that were significantly associated with ADHD (rs2770112-Transmitted: 71 Not Transmitted; 48; rs12861247-Transmitted: 43 Not Transmitted: 21), located towards the 5' end of the gene (P < 0.05). We conclude that the STS gene may play a role in susceptibility for ADHD, and that the neurosteroids pathways should be investigated further to access their potential contribution in susceptibility to the disorder.","PeriodicalId":520553,"journal":{"name":"American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","volume":" ","pages":"1531-5"},"PeriodicalIF":2.8,"publicationDate":"2008-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.b.30873","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27806424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 63

An exploratory study of the relationship between four candidate genes and neurocognitive performance in adult ADHD. 四种候选基因与成人ADHD神经认知表现关系的探索性研究。

IF 2.8

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Pub Date : 2008-04-05 DOI: 10.1002/ajmg.b.30595

A Marije Boonstra, J J Sandra Kooij, Jan K Buitelaar, Jaap Oosterlaan, Joseph A Sergeant, J G A M Angelien Heister, Barbara Franke

{"title":"An exploratory study of the relationship between four candidate genes and neurocognitive performance in adult ADHD.","authors":"A Marije Boonstra, J J Sandra Kooij, Jan K Buitelaar, Jaap Oosterlaan, Joseph A Sergeant, J G A M Angelien Heister, Barbara Franke","doi":"10.1002/ajmg.b.30595","DOIUrl":"https://doi.org/10.1002/ajmg.b.30595","url":null,"abstract":"Since neurocognitive performance is a possible endophenotype for Attention Deficit Hyperactivity Disorder (ADHD) we explored the relationship between four genetic polymorphisms and neurocognitive performance in adults with ADHD. We genotyped a sample of 45 adults with ADHD at four candidate polymorphisms for the disorder (DRD4 48 base pair (bp) repeat, DRD4 120 bp duplicated repeat, SLC6A3 (DAT1) 40 bp variable number of tandem repeats (VNTR), and COMT Val158Met). We then sub-grouped the sample for each polymorphism by genotype or by the presence of the (putative) ADHD risk allele and compared the performance of the subgroups on a large battery of neurocognitive tests. The COMT Val158Met polymorphism was related to differences in IQ and reaction time, both of the DRD4 polymorphisms (48 bp repeat and 120 bp duplication) showed an association with verbal memory skills, and the SLC6A3 40 bp VNTR polymorphism could be linked to differences in inhibition. Interestingly, the presence of the risk alleles in DRD4 and SLC6A3 was related to better cognitive performance. Our findings contribute to an improved understanding of the functional implications of risk genes for ADHD.","PeriodicalId":520553,"journal":{"name":"American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","volume":" ","pages":"397-402"},"PeriodicalIF":2.8,"publicationDate":"2008-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.b.30595","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41054986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 46

Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection. 在荷兰的兄弟姐妹中，阅读障碍易感位点在染色体1p和2p上，而不是6p上。

IF 2.8

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Pub Date : 2008-04-05 DOI: 10.1002/ajmg.b.30598

Carolien G F de Kovel, Barbara Franke, Frans A Hol, Jérémie J P Lebrec, Ben Maassen, Han Brunner, George W Padberg, Jill Platko, David Pauls

{"title":"Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection.","authors":"Carolien G F de Kovel, Barbara Franke, Frans A Hol, Jérémie J P Lebrec, Ben Maassen, Han Brunner, George W Padberg, Jill Platko, David Pauls","doi":"10.1002/ajmg.b.30598","DOIUrl":"https://doi.org/10.1002/ajmg.b.30598","url":null,"abstract":"In this study, we attempted to confirm genetic linkage to developmental dyslexia and reading-related quantitative traits of loci that have been shown to be associated with dyslexia in previous studies. In our sample of 108 Dutch nuclear families, the categorical trait showed strongest linkage to 1p36 (NPL-LOD = 2.1). LOD scores for quantitative traits word-reading, non-word reading, and rapid naming peaked near the same location as the categorical trait, as well as on chromosome 2. Non-word repetition showed little phenotypic correlation with dyslexia or with the other quantitative traits, and this trait showed linkage peaks on 11p and 15q. No evidence for linkage to 6p22-23 was found for this set of families. Comparison of our results and literature data shows that loci link to different phenotypes in different samples. The mutual connections of these traits and their relation to developmental dyslexia remain elusive.","PeriodicalId":520553,"journal":{"name":"American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","volume":" ","pages":"294-300"},"PeriodicalIF":2.8,"publicationDate":"2008-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.b.30598","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40987421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 33

Haplotype analysis confirms association of the serotonin transporter (5-HTT) gene with schizophrenia but not with major depression. 单倍型分析证实5-羟色胺转运体(5-HTT)基因与精神分裂症有关，但与重度抑郁症无关。

IF 2.8

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Pub Date : 2008-04-05 DOI: 10.1002/ajmg.b.30597

Ghazal Zaboli, Erik G Jönsson, Rinat Gizatullin, Alessandra De Franciscis, Marie Asberg, Rosario Leopardi

{"title":"Haplotype analysis confirms association of the serotonin transporter (5-HTT) gene with schizophrenia but not with major depression.","authors":"Ghazal Zaboli, Erik G Jönsson, Rinat Gizatullin, Alessandra De Franciscis, Marie Asberg, Rosario Leopardi","doi":"10.1002/ajmg.b.30597","DOIUrl":"https://doi.org/10.1002/ajmg.b.30597","url":null,"abstract":"Serotonin (5-HT) has been implicated in the pathophysiology of several psychiatric disorders including major depressive disorder (MDD) and schizophrenia (SCZ). The serotonin transporter (5-HTT) is a major regulator of 5-HT function. 5-HTT gene polymorphic variants have been associated with both MDD and SCZ. A case-control design was used for candidate gene-disease association in 194 MDD patients, 155 schizophrenic psychosis patients, and 246 healthy controls, all North European Caucasians. Four polymorphisms were analyzed in terms of genotype, allele, and haplotype-based associations. Linkage disequilibrium (LD) analysis was also carried out. Bonferroni correction was used for multiple testing. Haplotype-based analyses showed significant associations between 5-HTT and SCZ but not MDD. No single locus associations were observed. In agreement with published meta-analysis our results indicate that 5-HTT associates with SCZ but not with MDD. It appears that risk for SCZ maps within a specific 5-HTT haplotype block.","PeriodicalId":520553,"journal":{"name":"American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","volume":" ","pages":"301-7"},"PeriodicalIF":2.8,"publicationDate":"2008-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.b.30597","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40987424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 30

IF 2.8

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Pub Date : 2008-04-05 DOI: 10.1002/ajmg.b.30614

Jeremy M Silverman, Joseph D Buxbaum, Nicolas Ramoz, James Schmeidler, Abraham Reichenberg, Eric Hollander, Gary Angelo, Christopher J Smith, Lauren A Kryzak

{"title":"Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism.","authors":"Jeremy M Silverman, Joseph D Buxbaum, Nicolas Ramoz, James Schmeidler, Abraham Reichenberg, Eric Hollander, Gary Angelo, Christopher J Smith, Lauren A Kryzak","doi":"10.1002/ajmg.b.30614","DOIUrl":"https://doi.org/10.1002/ajmg.b.30614","url":null,"abstract":"Evidence for a genetic association between autism and two single nucleotide polymorphisms (SNPs), rs2056202 and rs2292813, in the mitochondrial aspartate/glutamate carrier (SLC25A12) gene led us to ask whether any of the four previously identified familial traits in autism spectrum disorders (ASD) varied by these SNPs. In 355 ASD cases from 170 sibships we examined levels of the four traits in these SNPs using ANCOVA models. The primary models selected unrelated affected cases and used age and sex as covariates. An ancillary set of models used all affected siblings and included \"sibship\" as a random effects independent variable. We found significantly lower levels of routines and rituals associated with the presence of the less frequent A allele in rs2056206. No other significant differences were observed. The rs2056202 polymorphism may be associated with levels of routines and rituals in autism and related disorders.","PeriodicalId":520553,"journal":{"name":"American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","volume":" ","pages":"408-10"},"PeriodicalIF":2.8,"publicationDate":"2008-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.b.30614","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40993362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 60

Executive function and genetic predisposition to schizophrenia--the Maudsley family study. 执行功能和精神分裂症的遗传易感性——莫兹利家族的研究。

IF 2.8

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Pub Date : 2008-04-05 DOI: 10.1002/ajmg.b.30594

P Birkett, T Sigmundsson, T Sharma, T Toulopoulou, T D Griffiths, A Reveley, R Murray

{"title":"Executive function and genetic predisposition to schizophrenia--the Maudsley family study.","authors":"P Birkett, T Sigmundsson, T Sharma, T Toulopoulou, T D Griffiths, A Reveley, R Murray","doi":"10.1002/ajmg.b.30594","DOIUrl":"https://doi.org/10.1002/ajmg.b.30594","url":null,"abstract":"Executive cognitive impairment has been found in families affected by schizophrenia and is a putative endophenotype. We wished to explore its genetic basis further by studying the association between impairment and genetic loading for schizophrenia. We studied 30 schizophrenia patients with a family history of schizophrenia, 53 of their nonpsychotic first-degree relatives (familial), 32 patients with schizophrenia but no known family history of psychosis, 52 of their first-degree relatives (nonfamilial), and 47 normal controls. They were tested using the National Adult Reading Test (NART), Trails A and B, Verbal fluency tasks, and a computerized version of the Wisconsin Card Sorting Test (WCST). Familial, but not nonfamilial, relatives were impaired on NART, letter fluency, Trails B, and WCST total errors. They were inferior to nonfamilial relatives on letter fluency and Trails A. Both sets of relatives were impaired on Trails B controlling for Trails A, and on WCST categories achieved. There were no significant differences between schizophrenia patients with and without a family history. Our results suggest that executive deficits qualitatively similar to those seen in those with schizophrenia reflect familial susceptibility, even taking early IQ and education into consideration, consistent with a genetic mechanism.","PeriodicalId":520553,"journal":{"name":"American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","volume":" ","pages":"285-93"},"PeriodicalIF":2.8,"publicationDate":"2008-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.b.30594","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40960975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 52

Meta-study on association between the monoamine oxidase A gene (MAOA) and schizophrenia. 单胺氧化酶A基因(MAOA)与精神分裂症相关性的meta研究。

IF 2.8

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Pub Date : 2008-03-05 DOI: 10.1002/ajmg.b.30570

Dawei Li, Lin He

引用次数: 32

Molecular genetic studies of ADHD: 1991 to 2004. ADHD的分子遗传学研究:1991 - 2004。

IF 2.8

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Pub Date : 2005-01-05

Aaron J Bobb, F Xavier Castellanos, Anjene M Addington, Judith L Rapoport

{"title":"Molecular genetic studies of ADHD: 1991 to 2004.","authors":"Aaron J Bobb, F Xavier Castellanos, Anjene M Addington, Judith L Rapoport","doi":"","DOIUrl":"","url":null,"abstract":"Attention deficit hyperactivity disorder (ADHD)is highly heritable but is likely a complex disorder involving multiple genes of moderate effect (Smalley [1997: Am J Hum Genet 60:1276-12821]). Over 100 studies have examined the genetics of ADHD by linkage or association, though no article has presented a comprehensive overview of all published reports. We reviewed all ADHD studies, including 3 genome-wide linkage studies, and association studies of 94 polymorphisms in 33 candidate genes. To simplify comparisons across heterogeneous articles, demographics and comorbidity were ignored; analyses of subtype and haplotypes were excluded; and only the most positive finding for each polymorphism in a study was reported. Thirty-six percent of all findings were positive (P< 0.05), 17% were trends (0.05 0.15). Studies utilizing dimensional measures of ADHD tended to result in higher rates of positive findings than those using categorical diagnoses (X(2) = 5.6, P = 0.018), and case-control studies tended to result in higher rates of positive findings than family-based studies (X(2) = 18.8, P < 0.001). However, for either dichotomy, no significant difference remained when analyzing only studies using both methods within the same population and polymorphism. Evidence for association exists for four genes in ADHD: the dopamine D4 and D5 receptors, and the dopamine and serotonin transporters; others are promising but need further replication, including the dopamine D2 and serotonin 2A receptors. All candidate gene approaches continue to face the problem of relatively low power, given modest odds ratios for even the best replicated genes.","PeriodicalId":520553,"journal":{"name":"American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","volume":" ","pages":"109-25"},"PeriodicalIF":2.8,"publicationDate":"2005-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25116320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0