A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11.

Abstract:

:Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is a common, highly heritable neurobehavioral disorder of childhood onset, characterized by hyperactivity, impulsivity, and/or inattention. As part of an ongoing study of the genetic etiology of ADHD, we have performed a genomewide linkage scan in 204 nuclear families comprising 853 individuals and 270 affected sibling pairs (ASPs). Previously, we reported genomewide linkage analysis of a "first wave" of these families composed of 126 ASPs. A follow-up investigation of one region on 16p yielded significant linkage in an extended sample. The current study extends the original sample of 126 ASPs to 270 ASPs and provides linkage analyses of the entire sample, using polymorphic microsatellite markers that define an approximately 10-cM map across the genome. Maximum LOD score (MLS) analysis identified suggestive linkage for 17p11 (MLS=2.98) and four nominal regions with MLS values >1.0, including 5p13, 6q14, 11q25, and 20q13. These data, taken together with the fine mapping on 16p13, suggest two regions as highly likely to harbor risk genes for ADHD: 16p13 and 17p11. Interestingly, both regions, as well as 5p13, have been highlighted in genomewide scans for autism.

journal_name

Am J Hum Genet

authors

Ogdie MN,Macphie IL,Minassian SL,Yang M,Fisher SE,Francks C,Cantor RM,McCracken JT,McGough JJ,Nelson SF,Monaco AP,Smalley SL

doi

10.1086/375139

subject

Has Abstract

pub_date

2003-05-01 00:00:00

pages

1268-79

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60653-3

journal_volume

72

pub_type

杂志文章
  • Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.

    abstract::Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogene...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Murray JC,Nishimura DY,Buetow KH,Ardinger HH,Spence MA,Sparkes RS,Falk RE,Falk PM,Gardner RJ,Harkness EM

    更新日期:1990-03-01 00:00:00

  • Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

    abstract::Several dysmorphic syndromes affect the development of both the eye and the ear, but only a few are restricted to the eye and the external ear. We describe a developmental defect affecting the eye and the external ear in three members of a consanguineous family. This syndrome is characterized by ophthalmic anomalies (...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2008.03.007

    authors: Schorderet DF,Nichini O,Boisset G,Polok B,Tiab L,Mayeur H,Raji B,de la Houssaye G,Abitbol MM,Munier FL

    更新日期:2008-05-01 00:00:00

  • Juvenile hemochromatosis locus maps to chromosome 1q.

    abstract::Juvenile hemochromatosis (JH) is an autosomal recessive disorder that leads to severe iron loading in the 2d to 3d decade of life. Affected members in families with JH do not show linkage to chromosome 6p and do not have mutations in the HFE gene that lead to the common hereditary hemochromatosis. In this study we per...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302379

    authors: Roetto A,Totaro A,Cazzola M,Cicilano M,Bosio S,D'Ascola G,Carella M,Zelante L,Kelly AL,Cox TM,Gasparini P,Camaschella C

    更新日期:1999-05-01 00:00:00

  • Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13.

    abstract::The identification of pathways that underlie common disease has been greatly impacted by the study of rare families that segregate single genes with large effect. Intracranial aneurysm is a common neurological problem; the rupture of these aneurysms constitutes a frequently catastrophic neurologic event. The pathogene...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/426953

    authors: Nahed BV,Seker A,Guclu B,Ozturk AK,Finberg K,Hawkins AA,DiLuna ML,State M,Lifton RP,Gunel M

    更新日期:2005-01-01 00:00:00

  • The ancestry of Brazilian mtDNA lineages.

    abstract::We have analyzed 247 Brazilian mtDNAs for hypervariable segment (HVS)-I and selected restriction fragment-length-polymorphism sites, to assess their ancestry in different continents. The total sample showed nearly equal amounts of Native American, African, and European matrilineal genetic contribution but with regiona...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/303004

    authors: Alves-Silva J,da Silva Santos M,Guimarães PE,Ferreira AC,Bandelt HJ,Pena SD,Prado VF

    更新日期:2000-08-01 00:00:00

  • Functional variants in the promoter region of Chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia.

    abstract::The chitinase 3-like 1 gene (CHI3L1) is abnormally expressed in the hippocampus of subjects with schizophrenia and may be involved in the cellular response to various environmental events that are reported to increase the risk of schizophrenia. Here, we provide evidence that the functional variants at the CHI3L1 locus...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/510438

    authors: Zhao X,Tang R,Gao B,Shi Y,Zhou J,Guo S,Zhang J,Wang Y,Tang W,Meng J,Li S,Wang H,Ma G,Lin C,Xiao Y,Feng G,Lin Z,Zhu S,Xing Y,Sang H,St Clair D,He L

    更新日期:2007-01-01 00:00:00

  • Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

    abstract::Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutati...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/431313

    authors: Schwartz CE,May MM,Carpenter NJ,Rogers RC,Martin J,Bialer MG,Ward J,Sanabria J,Marsa S,Lewis JA,Echeverri R,Lubs HA,Voeller K,Simensen RJ,Stevenson RE

    更新日期:2005-07-01 00:00:00

  • Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

    abstract::A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification and sequencing of cDNA from a compound heterozygote, we have det...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ding JH,Yang BZ,Bao Y,Roe CR,Chen YT

    更新日期:1992-01-01 00:00:00

  • Duplication of chromosome 10p: confirmation of regional assignments of platelet-type phosphofructokinase.

    abstract::A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), pre...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Schwartz S,Cohen MM,Panny SR,Beisel JH,Vora S

    更新日期:1984-07-01 00:00:00

  • Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

    abstract::The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 dominant osteogenesis imperfecta (OI) pedigrees by using polymorphic markers within or close to the genes. This was done in order to estimate the consistency of linkage of OI genes to these two loci. None...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Sykes B,Ogilvie D,Wordsworth P,Wallis G,Mathew C,Beighton P,Nicholls A,Pope FM,Thompson E,Tsipouras P

    更新日期:1990-02-01 00:00:00

  • Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

    abstract::Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morphogenesis. During murine...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2011.05.023

    authors: Saadi I,Alkuraya FS,Gisselbrecht SS,Goessling W,Cavallesco R,Turbe-Doan A,Petrin AL,Harris J,Siddiqui U,Grix AW Jr,Hove HD,Leboulch P,Glover TW,Morton CC,Richieri-Costa A,Murray JC,Erickson RP,Maas RL

    更新日期:2011-07-15 00:00:00

  • The gene encoding human vimentin is located on the short arm of chromosome 10.

    abstract::The gene for vimentin, an intermediate-filament protein, is growth regulated. We used Southern blot analysis and in situ chromosome hybridization to determine the location of the human vimentin gene. Our results show that there is only one copy of the vimentin gene and that it is located on the short arm of chromosome...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ferrari S,Cannizzaro LA,Battini R,Huebner K,Baserga R

    更新日期:1987-10-01 00:00:00

  • Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.

    abstract::Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzyme. Most of the 38 ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Brown BI,Brown DH

    更新日期:1989-03-01 00:00:00

  • Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.

    abstract::Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of OKT activity. These ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Shih VE,Mandell R,Berson EL

    更新日期:1988-12-01 00:00:00

  • Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

    abstract::Glycosylphosphatidylinositol (GPI)-anchored proteins are critical for embryogenesis, neurogenesis, and cell signaling. Variants in several genes participating in GPI biosynthesis and processing lead to decreased cell surface presence of GPI-anchored proteins (GPI-APs) and cause inherited GPI deficiency disorders (IGDs...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2020.03.001

    authors: Nguyen TTM,Murakami Y,Mobilio S,Niceta M,Zampino G,Philippe C,Moutton S,Zaki MS,James KN,Musaev D,Mu W,Baranano K,Nance JR,Rosenfeld JA,Braverman N,Ciolfi A,Millan F,Person RE,Bruel AL,Thauvin-Robinet C,Ververi A

    更新日期:2020-04-02 00:00:00

  • Isolated persistent hypermethioninemia.

    abstract::New information has been obtained on 30 patients with isolated persistent hypermethioninemia, most of them previously unreported. Biopsies to confirm the presumptive diagnosis of partially deficient activity of ATP: L-methionine S-adenosyltransferase (MAT; E.C.2.5.1.6) in liver were not performed on most of these pati...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Mudd SH,Levy HL,Tangerman A,Boujet C,Buist N,Davidson-Mundt A,Hudgins L,Oyanagi K,Nagao M,Wilson WG

    更新日期:1995-10-01 00:00:00

  • Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.

    abstract::Animal microRNAs (miRNAs) regulate gene expression through base pairing to their targets within the 3' untranslated region (UTR) of protein-coding genes. Single-nucleotide polymorphisms (SNPs) located within such target sites can affect miRNA regulation. We mapped annotated SNPs onto a collection of experimentally sup...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/519979

    authors: Sethupathy P,Borel C,Gagnebin M,Grant GR,Deutsch S,Elton TS,Hatzigeorgiou AG,Antonarakis SE

    更新日期:2007-08-01 00:00:00

  • Contrasting linkage-disequilibrium patterns between cases and controls as a novel association-mapping method.

    abstract::Identification and description of genetic variation underlying disease susceptibility, efficacy, and adverse reactions to drugs remains a difficult problem. One of the important steps in the analysis of variation in a candidate region is the characterization of linkage disequilibrium (LD). In a region of genetic assoc...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/503710

    authors: Zaykin DV,Meng Z,Ehm MG

    更新日期:2006-05-01 00:00:00

  • Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

    abstract::Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions has extended clini...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2012.11.017

    authors: Flanagan SE,Xie W,Caswell R,Damhuis A,Vianey-Saban C,Akcay T,Darendeliler F,Bas F,Guven A,Siklar Z,Ocal G,Berberoglu M,Murphy N,O'Sullivan M,Green A,Clayton PE,Banerjee I,Clayton PT,Hussain K,Weedon MN,Ellard S

    更新日期:2013-01-10 00:00:00

  • Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

    abstract::Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctiv...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2012.10.019

    authors: Haack TB,Hogarth P,Kruer MC,Gregory A,Wieland T,Schwarzmayr T,Graf E,Sanford L,Meyer E,Kara E,Cuno SM,Harik SI,Dandu VH,Nardocci N,Zorzi G,Dunaway T,Tarnopolsky M,Skinner S,Frucht S,Hanspal E,Schrander-Stumpel C,

    更新日期:2012-12-07 00:00:00

  • Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

    abstract::Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often associated with infertility; laterality def...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2018.10.003

    authors: Bonnefoy S,Watson CM,Kernohan KD,Lemos M,Hutchinson S,Poulter JA,Crinnion LA,Berry I,Simmonds J,Vasudevan P,O'Callaghan C,Hirst RA,Rutman A,Huang L,Hartley T,Grynspan D,Moya E,Li C,Carr IM,Bonthron DT,Leroux M,C

    更新日期:2018-11-01 00:00:00

  • The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

    abstract::Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotyp...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Kedda MA,Stevens G,Manga P,Viljoen C,Jenkins T,Ramsay M

    更新日期:1994-06-01 00:00:00

  • Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.

    abstract::Beckwith-Wiedeman syndrome (BWS) and Klippel-Trenaunay-Weber syndrome (KTWS) are different human disorders characterized, among other features, by tissue overgrowth. Deregulation of one or more imprinted genes located at chromosome 11p15.5, of which insulin-like growth factor 2 (IGF2) is the most likely candidate, is ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302811

    authors: Sperandeo MP,Ungaro P,Vernucci M,Pedone PV,Cerrato F,Perone L,Casola S,Cubellis MV,Bruni CB,Andria G,Sebastio G,Riccio A

    更新日期:2000-03-01 00:00:00

  • Neuropsychological endophenotype approach to genome-wide linkage analysis identifies susceptibility loci for ADHD on 2q21.1 and 13q12.11.

    abstract::ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were performed in the Dutch subs...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2008.06.006

    authors: Rommelse NN,Arias-Vásquez A,Altink ME,Buschgens CJ,Fliers E,Asherson P,Faraone SV,Buitelaar JK,Sergeant JA,Oosterlaan J,Franke B

    更新日期:2008-07-01 00:00:00

  • A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

    abstract::The Huntington disease (HD) gene has been mapped to the most distal subband of chromosome 4p. Analysis of recombination events has not provided an unequivocal location of the HD gene, but it indicates a position very close to the telomere as one possibility. We have constructed a yeast artificial chromosome (YAC) vect...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Bates GP,MacDonald ME,Baxendale S,Sedlacek Z,Youngman S,Romano D,Whaley WL,Allitto BA,Poustka A,Gusella JF

    更新日期:1990-04-01 00:00:00

  • Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

    abstract::We report on the identification of a 0.3 Mb inherited recurrent but variable copy-number gain at Xq28 in affected males of four unrelated families with X-linked mental retardation (MR). All aberrations segregate with the disease in the families, and the carrier mothers show nonrandom X chromosome inactivation. Tiling ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2009.10.019

    authors: Vandewalle J,Van Esch H,Govaerts K,Verbeeck J,Zweier C,Madrigal I,Mila M,Pijkels E,Fernandez I,Kohlhase J,Spaich C,Rauch A,Fryns JP,Marynen P,Froyen G

    更新日期:2009-12-01 00:00:00

  • Cystic fibrosis carrier population screening in the primary care setting.

    abstract::To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of ...

    journal_title:American journal of human genetics

    pub_type: 临床试验,杂志文章

    doi:

    authors: Loader S,Caldwell P,Kozyra A,Levenkron JC,Boehm CD,Kazazian HH Jr,Rowley PT

    更新日期:1996-07-01 00:00:00

  • A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits.

    abstract::Pooling genome-wide association studies (GWASs) increases power but also poses methodological challenges because studies are often heterogeneous. For example, combining GWASs of related but distinct traits can provide promising directions for the discovery of loci with small but common pleiotropic effects. Classical a...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.ajhg.2012.03.015

    authors: Bhattacharjee S,Rajaraman P,Jacobs KB,Wheeler WA,Melin BS,Hartge P,GliomaScan Consortium.,Yeager M,Chung CC,Chanock SJ,Chatterjee N

    更新日期:2012-05-04 00:00:00

  • Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

    abstract::Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibit this high-SCE/low...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ellis NA,Lennon DJ,Proytcheva M,Alhadeff B,Henderson EE,German J

    更新日期:1995-11-01 00:00:00

  • Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.

    abstract::Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate. We have used an affected-only DNA-pooling strategy to carry out linkage disequilibriu...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302072

    authors: Suzuki K,Bustos T,Spritz RA

    更新日期:1998-10-01 00:00:00