{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Case Set; Control Set"],"host":["dbGaP"],"description":["EGA study phs000490.v1.p1"],"host_link":["http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000490.v1.p1"],"source":["dbGaP"],"repository":["EGA"],"category":["restricted"],"full_dataset_link":["https://ega-archive.org/studies/phs000490.v1.p1"],"pubmed_title":["Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.","17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry.","ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.","Structural variations in attention-deficit hyperactivity disorder.","Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.","Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.","Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A.","Variants of DENND1B associated with asthma in children.","Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes."],"pubmed_authors":["Wang Kai K, Edmondson Andrew C AC, Li Mingyao M, Gao Fan F, Qasim Atif N AN, Devaney Joseph M JM, Burnett Mary Susan MS, Waterworth Dawn M DM, Mooser Vincent V, Grant Struan F A SF, Epstein Stephen E SE, Reilly Muredach P MP, Hakonarson Hakon H, Rader Daniel J DJ","Elia J J, Gai X X, Xie H M HM, Perin J C JC, Geiger E E, Glessner J T JT, D'arcy M M, deBerardinis R R, Frackelton E E, Kim C C, Lantieri F F, Muganga B M BM, Wang L L, Takeda T T, Rappaport E F EF, Grant S F A SF, Berrettini W W, Devoto M M, Shaikh T H TH, Hakonarson H H, White P S PS","Sleiman Patrick M A PM, Annaiah Kiran K, Imielinski Marcin M, Bradfield Jonathan P JP, Kim Cecilia E CE, Frackelton Edward C EC, Glessner Joseph T JT, Eckert Andrew W AW, Otieno F George FG, Santa Erin E, Thomas Kelly K, Smith Ryan M RM, Glaberson Wendy W, Garris Maria M, Gunnlaugsson Sigfus S, Chiavacci Rosetta M RM, Allen Julian J, Spergel Jonathan J, Grundmeier Robert R, Grunstein Michael M MM, Magnusson Mark M, Bisgaard Hans H, Grant Struan F A SF, Hakonarson Hakon H","Elia Josephine J, Gai Xaiowu X, Hakonarson Hakon H, White Peter S PS","Flory James H JH, Sleiman Patrick M PM, Christie Jason D JD, Annaiah Kiran K, Bradfield Jonathan J, Kim Cecilia E CE, Glessner Joseph J, Imielinski Marcin M, Li Hongzhe H, Frackelton Edward C EC, Cuiping Hou H, Otieno George G, Thomas Kelly K, Smith Ryan R, Glaberson Wendy W, Garris Maria M, Chiavacci Rosetta R, Allen Julian J, Spergel Jonathan J, Grundmeier Robert R, Grunstein Michael M, Magnusson Michael M, Grant Struan F A SF, Bønnelykke Klaus K, Bisgaard Hans H, Hakonarson Hakon H","Sleiman Patrick M A PM, Flory James J, Imielinski Marcin M, Bradfield Jonathan P JP, Annaiah Kiran K, Willis-Owen Saffron A G SA, Wang Kai K, Rafaels Nicholas M NM, Michel Sven S, Bonnelykke Klaus K, Zhang Haitao H, Kim Cecilia E CE, Frackelton Edward C EC, Glessner Joseph T JT, Hou Cuiping C, Otieno F George FG, Santa Erin E, Thomas Kelly K, Smith Ryan M RM, Glaberson Wendy R WR, Garris Maria M, Chiavacci Rosetta M RM, Beaty Terri H TH, Ruczinski Ingo I, Orange Jordan S JS, Allen Julian J, Spergel Jonathan M JM, Grundmeier Robert R, Mathias Rasika A RA, Christie Jason D JD, von Mutius Erika E, Cookson William O C WO, Kabesch Michael M, Moffatt Miriam F MF, Grunstein Michael M MM, Barnes Kathleen C KC, Devoto Marcella M, Magnusson Mark M, Li Hongzhe H, Grant Struan F A SF, Bisgaard Hans H, Hakonarson Hakon H","Elia Josephine J, Glessner Joseph T JT, Wang Kai K, Takahashi Nagahide N, Shtir Corina J CJ, Hadley Dexter D, Sleiman Patrick M A PM, Zhang Haitao H, Kim Cecilia E CE, Robison Reid R, Lyon Gholson J GJ, Flory James H JH, Bradfield Jonathan P JP, Imielinski Marcin M, Hou Cuiping C, Frackelton Edward C EC, Chiavacci Rosetta M RM, Sakurai Takeshi T, Rabin Cara C, Middleton Frank A FA, Thomas Kelly A KA, Garris Maria M, Mentch Frank F, Freitag Christine M CM, Steinhausen Hans-Christoph HC, Todorov Alexandre A AA, Reif Andreas A, Rothenberger Aribert A, Franke Barbara B, Mick Eric O EO, Roeyers Herbert H, Buitelaar Jan J, Lesch Klaus-Peter KP, Banaschewski Tobias T, Ebstein Richard P RP, Mulas Fernando F, Oades Robert D RD, Sergeant Joseph J, Sonuga-Barke Edmund E, Renner Tobias J TJ, Romanos Marcel M, Romanos Jasmin J, Warnke Andreas A, Walitza Susanne S, Meyer Jobst J, Pálmason Haukur H, Seitz Christiane C, Loo Sandra K SK, Smalley Susan L SL, Biederman Joseph J, Kent Lindsey L, Asherson Philip P, Anney Richard J L RJ, Gaynor J William JW, Shaw Philip P, Devoto Marcella M, White Peter S PS, Grant Struan F A SF, Buxbaum Joseph D JD, Rapoport Judith L JL, Williams Nigel M NM, Nelson Stanley F SF, Faraone Stephen V SV, Hakonarson Hakon H","Paternoster Lavinia L, Standl Marie M, Chen Chih-Mei CM, Ramasamy Adaikalavan A, Bønnelykke Klaus K, Duijts Liesbeth L, Ferreira Manuel A MA, Alves Alexessander Couto AC, Thyssen Jacob P JP, Albrecht Eva E, Baurecht Hansjörg H, Feenstra Bjarke B, Sleiman Patrick M A PM, Hysi Pirro P, Warrington Nicole M NM, Curjuric Ivan I, Myhre Ronny R, Curtin John A JA, Groen-Blokhuis Maria M MM, Kerkhof Marjan M, Sääf Annika A, Franke Andre A, Ellinghaus David D, Fölster-Holst Regina R, Dermitzakis Emmanouil E, Montgomery Stephen B SB, Prokisch Holger H, Heim Katharina K, Hartikainen Anna-Liisa AL, Pouta Anneli A, Pekkanen Juha J, Blakemore Alexandra I F AI, Buxton Jessica L JL, Kaakinen Marika M, Duffy David L DL, Madden Pamela A PA, Heath Andrew C AC, Montgomery Grant W GW, Thompson Philip J PJ, Matheson Melanie C MC, Le Souëf Peter P, St Pourcain Beate B, Smith George Davey GD, Henderson John J, Kemp John P JP, Timpson Nicholas J NJ, Deloukas Panos P, Ring Susan M SM, Wichmann H-Erich HE, Müller-Nurasyid Martina M, Novak Natalija N, Klopp Norman N, Rodríguez Elke E, McArdle Wendy W, Linneberg Allan A, Menné Torkil T, Nohr Ellen A EA, Hofman Albert A, Uitterlinden André G AG, van Duijn Cornélia M CM, Rivadeneira Fernando F, de Jongste Johan C JC, van der Valk Ralf J P RJ, Wjst Matthias M, Jogi Rain R, Geller Frank F, Boyd Heather A HA, Murray Jeffrey C JC, Kim Cecilia C, Mentch Frank F, March Michael M, Mangino Massimo M, Spector Tim D TD, Bataille Veronique V, Pennell Craig E CE, Holt Patrick G PG, Sly Peter P, Tiesler Carla M T CM, Thiering Elisabeth E, Illig Thomas T, Imboden Medea M, Nystad Wenche W, Simpson Angela A, Hottenga Jouke-Jan JJ, Postma Dirkje D, Koppelman Gerard H GH, Smit Henriette A HA, Söderhäll Cilla C, Chawes Bo B, Kreiner-Møller Eskil E, Bisgaard Hans H, Melén Erik E, Boomsma Dorret I DI, Custovic Adnan A, Jacobsson Bo B, Probst-Hensch Nicole M NM, Palmer Lyle J LJ, Glass Daniel D, Hakonarson Hakon H, Melbye Mads M, Jarvis Deborah L DL, Jaddoe Vincent W V VW, Gieger Christian C, Strachan David P DP, Martin Nicholas G NG, Jarvelin Marjo-Riitta MR, Heinrich Joachim J, Evans David M DM, Weidinger Stephan S","Elia Josephine J, Capasso Mario M, Zaheer Zafar Z, Lantieri Francesca F, Ambrosini Paul P, Berrettini Wade W, Devoto Marcella M, Hakonarson Hakon H"],"pubmed_abstract":["Atopic dermatitis (AD) is a commonly occurring chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing atopic dermatitis are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 affected individuals and 20,565 controls from 16 population-based cohorts and then examined the ten most strongly associated new susceptibility loci in an additional 5,419 affected individuals and 19,833 controls from 14 studies. Three SNPs reached genome-wide significance in the discovery and replication cohorts combined, including rs479844 upstream of OVOL1 (odds ratio (OR) = 0.88, P = 1.1 × 10(-13)) and rs2164983 near ACTL9 (OR = 1.16, P = 7.1 × 10(-9)), both of which are near genes that have been implicated in epidermal proliferation and differentiation, as well as rs2897442 in KIF3A within the cytokine cluster at 5q31.1 (OR = 1.11, P = 3.8 × 10(-8)). We also replicated association with the FLG locus and with two recently identified association signals at 11q13.5 (rs7927894; P = 0.008) and 20q13.33 (rs6010620; P = 0.002). Our results underline the importance of both epidermal barrier function and immune dysregulation in atopic dermatitis pathogenesis.","Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohorts, with a total of 2,493 cases with ADHD and 9,222 controls of European ancestry, using matched platforms. CNVs affecting metabotropic glutamate receptor genes were enriched across all cohorts (P = 2.1 × 10(-9)). We saw GRM5 (encoding glutamate receptor, metabotropic 5) deletions in ten cases and one control (P = 1.36 × 10(-6)). We saw GRM7 deletions in six cases, and we saw GRM8 deletions in eight cases and no controls. GRM1 was duplicated in eight cases. We experimentally validated the observed variants using quantitative RT-PCR. A gene network analysis showed that genes interacting with the genes in the GRM family are enriched for CNVs in ∼10% of the cases (P = 4.38 × 10(-10)) after correction for occurrence in the controls. We identified rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts.","<h4>Objectives</h4>Attention-deficit hyperactivity disorder (ADHD) is a highly heritable, common developmental disorder. Although a few confirmed associations have emerged from candidate gene studies, these have shown the same limitations that have become evident in the study of other complex diseases, often with inconsistent and nonreplicated results across different studies.<h4>Methods</h4>In this report, 27 ADHD candidate genes were explored in greater depth using high-density tag single nucleotide polymorphism (SNP) genotyping. Association with 557 SNPs was tested using the transmission disequilibrium test in 270 nuclear pedigrees selected from an ongoing ADHD genetic study that includes all disease subtypes.<h4>Results</h4>SNPs in seven genes including SLC1A3, SLC6A3, HTR4, ADRA1A, HTR2A, SNAP25, and COMT showed a nominal level of association with ADHD (P values <0.05), but none remained significant after a stringent correction for the total number of tests performed.<h4>Conclusion</h4>The strongest signal emerged from SNPs in the promoter region (rs3808585) and in an intron (rs17426222, rs4732682, rs573514) of ADRA1A, all located within the same haplotype block. Some of the SNPs in HTR2A and COMT have already been reported by others, whereas other SNPs will need confirmation in independent samples.","<h4>Background</h4>Asthma is a complex disease that has genetic and environmental causes. The genetic factors associated with susceptibility to asthma remain largely unknown.<h4>Methods</h4>We carried out a genomewide association study involving children with asthma. The sample included 793 North American children of European ancestry with persistent asthma who required daily inhaled glucocorticoid therapy and 1988 matched controls (the discovery set). We also tested for genomewide association in an independent cohort of 917 persons of European ancestry who had asthma and 1546 matched controls (the replication set). Finally, we tested for an association between 20 single-nucleotide polymorphisms (SNPs) at chromosome 1q31 and asthma in 1667 North American children of African ancestry who had asthma and 2045 ancestrally matched controls.<h4>Results</h4>In our meta-analysis of all samples from persons of European ancestry, we observed an association, with genomewide significance, between asthma and SNPs at the previously reported locus on 17q21 and an additional eight SNPs at a novel locus on 1q31. The SNP most strongly associated with asthma was rs2786098 (P=8.55x10(-9)). We observed replication of the association of asthma with SNP rs2786098 in the independent series of persons of European ancestry (combined P=9.3x10(-11)). The alternative allele of each of the eight SNPs on chromosome 1q31 was strongly associated with asthma in the children of African ancestry (P=1.6x10(-13) for the comparison across all samples). The 1q31 locus contains the 1q31 locus contains DENND1B, a gene expressed by natural killer cells and dendritic cells. DENND1B protein is predicted to interact with the tumor necrosis factor α receptor [corrected].<h4>Conclusions</h4>We have identified a locus containing DENND1B on chromosome 1q31.3 that is associated with susceptibility to asthma.","Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable disorder, but specific genetic factors underlying risk remain elusive. To assess the role of structural variation in ADHD, we identified 222 inherited copy number variations (CNVs) within 335 ADHD patients and their parents that were not detected in 2026 unrelated healthy individuals. Although no excess CNVs, either deletions or duplications, were found in the ADHD cohort relative to controls, the inherited rare CNV-associated gene set was significantly enriched for genes reported as candidates in studies of autism, schizophrenia and Tourette syndrome, including A2BP1, AUTS2, CNTNAP2 and IMMP2L. The ADHD CNV gene set was also significantly enriched for genes known to be important for psychological and neurological functions, including learning, behavior, synaptic transmission and central nervous system development. Four independent deletions were located within the protein tyrosine phosphatase gene, PTPRD, recently implicated as a candidate gene for restless legs syndrome, which frequently presents with ADHD. A deletion within the glutamate receptor gene, GRM5, was found in an affected parent and all three affected offspring whose ADHD phenotypes closely resembled those of the GRM5 null mouse. Together, these results suggest that rare inherited structural variations play an important role in ADHD development and indicate a set of putative candidate genes for further study in the etiology of ADHD.","Pathway-based association methods have been proposed to be an effective approach in identifying disease genes, when single-marker association tests do not have sufficient power. The analysis of quantitative traits may be benefited from these approaches, by sampling from two extreme tails of the distribution. Here we tested a pathway association approach on a small genome-wide association study (GWAS) on 653 subjects with extremely high high-density lipoprotein cholesterol (HDL-C) levels and 784 subjects with low HDL-C levels. We identified 102 genes in the sterol transport and metabolism pathways that collectively associate with HDL-C levels, and replicated these association signals in an independent GWAS. Interestingly, the pathways include 18 genes implicated in previous GWAS on lipid traits, suggesting that genuine HDL-C genes are highly enriched in these pathways. Additionally, multiple biologically relevant loci in the pathways were not detected by previous GWAS, including genes implicated in previous candidate gene association studies (such as LEPR, APOA2, HDLBP, SOAT2), genes that cause Mendelian forms of lipid disorders (such as DHCR24), and genes expressing dyslipidemia phenotypes in knockout mice (such as SOAT1, PON1). Our study suggests that sampling from two extreme tails of a quantitative trait and examining genetic pathways may yield biological insights from smaller samples than are generally required using single-marker analysis in large-scale GWAS. Our results also implicate that functionally related genes work together to regulate complex quantitative traits, and that future large-scale studies may benefit from pathway-association approaches to identify novel pathways regulating HDL-C levels."],"name_synonyms":["genetic, study, other disease, disease, human disease, diseases, familial, disease or disorder, disorders, condition, disorder, diseases and disorders, Homo sapiens disease, inherited genetic, medical condition, constitutitional genetic, hereditary, non-neoplastic."],"description_synonyms":["Health Diary, exercise induced asthma, beta-Lipoproteins, Disorders, Gastro-oesophageal Reflux, atopic dermatitis, Activity, determination, Laboratory, acetylglucosaminyltransferase-like protein, Reactive airway disease, C|EBP-homologous protein, Atopic, Mbp1, beta Lipoproteins, Hyperkinetic, NK/GPI., CG3629, Asthmas, C|EBP-homologous protein 10, Status, Trimethyl(2-(phosphonooxy)ethyl)ammonium, Health Diaries, diseases, Medical Transcriptions, diseases and disorders, Brain Dysfunction, N-Trimethyl-2-aminoethylphosphonate, LDL-2, Low Density Lipoproteins, LDL-1, Research Activity, Gpi-1, myd, Laboratory Research, Priorities, AI661365, ADHD, Art, ART, Gastro-oesophageal, human disease, like-acetylglucosaminyltransferase, Diary, Nlk, Comparative Genomics, Mbp-1, Xchop, Gadd153, Ba, Diaries, chronic obstructive asthma, Deficit Disorders, Besnier's prurigo, Gastro-Esophageal, allergic dermatitis, Homo sapiens disease, Gastroesophageal reflux disease, Research Priority, Phosphoryl-choline, Attention Deficit, LDL(1), NK/GPI, ADD, Gpi, Genomics, Attention Deficit-Hyperactivity Disorder, dl, wide/broad, gyltl1b-b, Step Parents, Comparative, Attention Deficit-Hyperactivity Disorders, Arts, pediatric, allergic form of dermatitis, Research Priorities, Infantile, Functional Genomics, beta Lipoprotein, Stepparent, Programs, Low-Density Lipoprotein 1, gadd153, l(2)01092, Parenthood, Atopic dermatitis and related conditions (disorder), Attention, Esophageal Reflux, mOC-X, Gastroesophageal Reflux, DmelCG3629, MDDGA6, consent, mKIAA0609, Low-Density Lipoprotein 2, Step-Parents, Diseases, BcDNA:LP01770, Hyperkinetic Syndrome, Dysfunction, NK|GPI, IVF, KIAA0609, beta-Lipoprotein, acetylglucosaminyltransferase-like 1A, Research and Development, fg, O-Phosphocholine, DLL, Parent, Attention Deficit Hyperactivity Disorders, Org, ORG, gyltl1b, Low-Density, Parental Age, mdc1d, chronic obstructive asthma with acute exacerbation, Parental Ages, Gpi1-r, Gpi1-s, Eczema, Gpi1-t, Children, LARGE_HUMAN, E(Arp), En(Arp), Age, Activities, Infantile Eczema, Phenotypes, disease, MDC1D, Atopic Dermatitis, wide, Dermatitides, metastatic, dll, Health, enr, Syndromes, atopic eczema, beta-lipoproteins, Lipoproteins, C|EBP zeta, AGRT, Gastroesophageal Reflux Disease, Bglap-rs1, LDL2, LDL1, Gpi1s, Gastro-Esophageal Reflux, other disease, Other atopic dermatitis and related conditions, AI461847, Dermatitis, paediatric, Reflux, 9930121L06Rik, broad, CHOP, LARGE1, froggy, Gyltl1a, ChoP, Structural, chop, l(2)387, Growth arrest and DNA-damage-inducible protein GADD153, Minimal, Gastro Esophageal Reflux, Low Density Lipoprotein 2, Asthma, Low Density Lipoprotein 1, Functional, Growth arrest and DNA damage-inducible protein GADD153, Low-density lipoprotein, disease or disorder, Deficit-Hyperactivity Disorders, low-density lipoproteins, Pgi, Parenthood Status, Atopic Dermatitides, Bronchial Asthma, Medical, Stepparents, Disseminated Neurodermatitides, Gastro Esophageal Reflux Disease, CCAAT|enhancer-binding protein homologous protein, Gastric Acid, Drugs, Transcription, Low Density Lipoprotein, Research, Gpi-1r, MDDGB6, Gpi-1s, Phi, Gpi-1t, LDL Lipoproteins, ger, Low-Density Lipoprotein, LARGE, ATOD, exercise-induced asthma, Deficit Disorder, Reflux Disease, Genotypes, Medical Record, non-neoplastic, BPFD#36, Electronic, Ages, Disorder, Attention Deficit Disorder, disorder, atopic, Development and Research, Gastro oesophageal Reflux, chronic obstructive asthma with status asthmaticus, DDIT-3, 2.7, Gastric Acid Reflux, Atopic Neurodermatitides, Chop10, whole blood, atopic dermatitis and related conditions, Lipoprotein, Attention Deficit Disorders with Hyperactivity, Parental, disorders, eczematous dermatitis, gastroesophageal reflux, medical condition, eczema, ASTHMA, Medications, MF, O-phosphocholine, Gastro-Esophageal Reflux Diseases, LDL(2), Hospital, Amf, Records, OTHER ATOPIC DERMATITIS, Choline phosphate, Neurodermatitis, Priority, Genogroup, Sequencing Facility, Phosphorylcholine, Acid Reflux, chemical analysis, Research Activities, GERD, Step-Parent, condition, Attention Deficit Disorders, Medical Transcription, Gastric, Gastric Acid Reflux Disease, NK, Attention Deficit-Hyperactivity, Minimal Brain, Minimal Brain Dysfunction, Transcriptions, dermatitis, CHOP10, LDL, GADD153, atopic neurodermatitis, Gastroesophageal, CHOP-10, Record, Neurodermatitides, Disseminated, Gastro-Esophageal Reflux Disease, Genogroups, Snm1l, like-glycosyltransferase, Atopic Eczema, Disseminated Neurodermatitis, low-density lipoprotein, Structural Genomics, assay, Attention Deficit Hyperactivity Disorder, Low-Density Lipoproteins, Bronchial, ADDH, CEBPZ, Atopic Neurodermatitis, glycosyltransferase-like protein LARGE1, Deficit-Hyperactivity Disorder"],"pubmed_title_synonyms":["biochemical pathways, Regulations, Metabolic Process, Materials, wide/broad, degradation, Process, Social Controls., Formal Social Control, Processes, metabolism resulting in cell growth, HDL-C, Metabolic Concepts, Gene, broad, alpha Lipoprotein Cholesterol, Metabolic Processes, Cistrons, Concept, Metabolic Phenomena, Metabolism Concepts, HDL Cholesterol, Social Control, Associations, Metabolism, Phenomena, Concepts, Genetic Materials, alpha-Lipoprotein, secretion, Metabolism Concept, High Density Lipoprotein Cholesterol, Phenomenon, alpha-Lipoprotein Cholesterol, Metabolism Phenomena, metabolism, Formal Social Controls, Genetic Material, Metabolic Phenomenon, study, HDL3, HDL2 Cholesterol, HDL2, multicellular organism metabolic process, HDL3 Cholesterol, Genetic, biodegradation, Metabolic, catabolism, alpha-lipoprotein cholesterol, Control, Metabolic Concept, metabolic process resulting in cell growth, Controls, Social, HDL(3) Cholesterol, HDL(2) Cholesterol, wide, Material, Cholesterol, HDL cholesterol, biotransformation, Cistron, regulation, Catabolism, Regulation, Anabolism"],"pubmed_abstract_synonyms":["Materials, atopic dermatitis, Other atopic dermatitis and related conditions, Dermatoses, Filaggrin, klp64D, HBGFR, HRTFDS, Dermatitis, regulation by symbiont of host system process, Atopic, l(2)esg, positive regulation by symbiont of host non-apoptotic programmed cell death, Gene, broad, genodermatosis, CD331, KAL2, l(2)4B7, x1fgfr, Relative, School-Age, Odds Ratios, KLP4, Klp4, dermatosis, CEK, HOVO1, induction by organism of non-apoptotic programmed cell death in other organism during symbiotic interaction, Associations, kal2, pathogenesis, HH2, causality., Atopic Dermatitides, Eask, DmKlp64D, Disseminated Neurodermatitides, bfgfr, Risk Ratio, 111-11-71, CG3758, FLG, School-Age Populations, flt-2, Kif3A, Cross-Product Ratio, Risk Ratios, KLP64Ddm, cek, dgl, Genetic, fgfr1, stimulation by symbiont of host programmed cell death, Genomes, BFGFR, FGFBR, ATOD2, KIF3A, ATOD, Hspy, causes, Esg, fgfr-1, Population, Ratio, X1FGFR, BB147136, flg, Odds, Stratum Corneum Basic Protein Precursor, FLA10, 4B7, Besnier's prurigo, Skin Disease, OGD, allergic dermatitis, atopic, Chronic, AW208770, School Age Population, associated, l(2)br43, Skin and Subcutaneous Tissue Disorders, Flt-2, Atopic Neurodermatitides, Filaggrin Protein, movo1, Profilaggrin, FLT2, Cross-Product, activation by organism of non-apoptotic programmed cell death in other organism, wide/broad, DmelCG3758, atopic dermatitis and related conditions, l(2)07082, hemolysin activity, ogd, FLT-2, allergic form of dermatitis, Proteins, Stratum Corneum Basic Protein, Ratios, bFGF-R-1, eczematous dermatitis, AW124694, Infantile, function, eczema, KLP64D, Cistrons, results, OTHER ATOPIC DERMATITIS, Fgfr-1, xfgfr1, Cross-Product Ratios, N-SAM, Atopic dermatitis and related conditions (disorder), Neurodermatitis, Cytokine, XFGFR-1, AV259599, Kif3, School Age, Protein, modulation by symbiont of host system process, Genetic Materials, flt2, Dermatosis, xklp3A, Genetic Material, Cross Product Ratio, Kns3, Populations, susceptibility, Risk, Ovo1, FGFR-1, BG:DS07851.7, dermatitis, atopic neurodermatitis, Eczema, XFGFRA2, whole genome, MFR, RGD1306886, 111-11-86, l35Ce, shof, Neurodermatitides, Disseminated, School Age Populations, 1700029I08Rik, Infantile Eczema, br43, Atopic Dermatitis, CG10642, Dermatitides, wide, Relative Odds, Kifl, Atopic Eczema, wiz, Material, atopic eczema, activation by symbiont of host programmed cell death, c-fgr, Disseminated Neurodermatitis, l(2)35Ce, Cistron, KLP-20, School-Age Population, DmelCG10642, Atopic Neurodermatitis"],"additional_accession":[]},"is_claimable":false,"name":"A Study of the Genetic Causes of Complex Pediatric Disorders","description":"<p>The Center for Applied Genomics (CAG) at the Children&#39;s Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children&#39;s Hospital Healthcare Network and their parents may be eligible to take part in a major initiative to collect more than 100,000 blood samples, covering a wide range of pediatric diseases.</p> <p>A large majority of participants consenting to prospective genomic analyses also consent to analysis of their de-identified electronic medical records (EMRs). EMRs are longitudinal, with a mean duration of 6.5 years. CAG has committed to releasing genotype and phenotype data for 4000 individuals diagnosed with <b>asthma</b>, <b>ADHD</b>, <b>atopic dermatitis</b>, <b>GERD</b> (1000 for each), and 1000 individuals on the upper and lower ranges of <b>Low-Density Lipoprotein</b> (LDL) levels to dbGaP. We will also release genotype/phenotype of 3000 controls.</p> <p>Relevant phenotype data includes primary diagnoses (ICD9 codes), secondary diagnoses (ICD9 codes), medical procedures/tests conducted in relation to the phenotype, and a listing of relevant medications.</p> <p>Further details of CAG&#39;s research programs and capacity are available at: <a href=\"http://www.caglab.org/\">http://www.caglab.org</a></p>\n","dates":{"output":"2025-1-9"},"accession":"phs000490.v1.p1","cross_references":{"TAXONOMY":["9606"],"pubmed":["20032318","18760456","21277432","19546859","19352218","19660801","22303337","22197932","22138692"]}}