Genome-wide Association Scan Identifies a Prostaglandin-Endoperoxide Synthase 2 Variant Involved in Risk of Knee Osteoarthritis Ana M. Valdes, John Loughlin,

Slides:

Advertisements

Similar presentations

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Advertisements

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea Fernando L. Mendez, Joseph C.

Supplemental Figure 2. (A) AtplaIVA-1 and AtplaIVA-2 null transcription lines for AtPLAIVA mRNA. RNAs from the relevant wild type Col were isolated.

Integration of Genomic and Genetic Approaches Implicates IREB2 as a COPD Susceptibility Gene Dawn L. DeMeo, Thomas Mariani, Soumyaroop Bhattacharya,

L. J. Sandell, Ph. D. , X. Xing, M. D. , C. Franz, M. A. , S

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene Manfred Kayser, Fan Liu, A. Cecile J.W. Janssens,

Jonathan A. Schumacher, Stephen D. Jenson, Kojo S. J

Strong Evidence That KIAA0319 on Chromosome 6p Is a Susceptibility Gene for Developmental Dyslexia Natalie Cope, Denise Harold, Gary Hill, Valentina.

Novel Molecular Method for Detection of Bovine-Specific Central Nervous System Tissues as Bovine Spongiform Encephalopathy Risk Material in Meat and Meat.

A Locus on Chromosome 1p36 Is Associated with Thyrotropin and Thyroid Function as Identified by Genome-wide Association Study Vijay Panicker, Scott G.

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

Qing Cheng, Cheng Cheng, Kristine R. Crews, Raul C

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

Linkage Thresholds for Two-stage Genome Scans

Microsatellite Polymorphism in the Heme Oxygenase-1 Gene Promoter Is Associated with Susceptibility to Emphysema Norihiro Yamada, Mutsuo Yamaya, Shoji.

Volume 371, Issue 9623, Pages (May 2008)

Improved Heritability Estimation from Genome-wide SNPs

PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger Anurag Verma,

Expression of Two Breast-Specific Molecules in the Lung

Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease Alberto Auricchio, Paola.

A. M. Valdes, N. K. Arden, A. Tamm, K. Kisand, S. Doherty, E. Pola, C

Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease Silvia Albert, Alejandro.

Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation Marielle Alders, Tamara T. Koopmann,

Studies of gene expression in human cumulus cells indicate pentraxin 3 as a possible marker for oocyte quality Xingqi Zhang, Ph.D., Nadereh Jafari, Ph.D.,

Genotyping Single Nucleotide Polymorphisms in Human Genomic DNA with an Automated and Self-Contained PCR Cassette Dammika P. Manage, Lucy Ma, Jana Lauzon,

Osteoarthritis year 2013 in review: genetics and genomics

Methylation of the OP-1 promoter: potential role in the age-related decline in OP-1 expression in cartilage R.F. Loeser, M.D., H.-J. Im, Ph.D., B. Richardson,

A Variant in MCF2L Is Associated with Osteoarthritis

Laurent Gouya Journal of Investigative Dermatology

Family-Based Association Studies for Next-Generation Sequencing

A Weighted False Discovery Rate Control Procedure Reveals Alleles at FOXA2 that Influence Fasting Glucose Levels Chao Xing, Jonathan C. Cohen, Eric Boerwinkle

Osteoarthritis year 2012 in review: genetics and genomics

Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium Penelope E. Bonnen, Michael D. Story,

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria Barbara Kloeckener-Gruissem,

Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association James R. Elmore, MD, Melissa.

Five Years of GWAS Discovery

Lisa Edelmann, Jianli Dong, Robert J. Desnick, Ruth Kornreich

Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.

Erratum The American Journal of Human Genetics

A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals Brian L. Browning, Sharon.

Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II) Ulrike Schwarze, Mary.

A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda George E. Tiller, Vickie L. Hannig, Damon Dozier,

Dara G. Torgerson, Daniel Capurso, Rasika A. Mathias, Penelope E

Vivian G. Cheung, Alan Bruzel, Joshua T

674. Molecular, Biochemical and Biomechanical Analysis of Articular Cartilage Repaired with Genetically Modified Chondrocytes Expressing Insulin-Like.

Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information Tasha E. Fingerlin,

Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome E.V.A. Raine,

Wei Pan, Il-Youp Kwak, Peng Wei The American Journal of Human Genetics

Imprinting of Human GRB10 and Its Mutations in Two Patients with Russell-Silver Syndrome Hiroshi Yoshihashi, Katsuhiro Maeyama, Rika Kosaki, Tsutomu.

Osteoarthritis and Cartilage

Large-scale meta-analysis of interleukin-1 beta and interleukin-1 receptor antagonist polymorphisms on risk of radiographic hip and knee osteoarthritis.

F. Zhang, Ph. D. , G. Zhai, Ph. D. , B. S. Kato, Ph. D. , D. J

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

Wook Lew Journal of Investigative Dermatology

Osteoarthritis year 2012 in review: genetics and genomics

L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals Xiaowei Wu, Mary Sara McPeek

Osteoarthritis year in review 2016: genetics, genomics and epigenetics

Radiographic osteoarthritis at three joint sites and FRZB, LRP5, and LRP6 polymorphisms in two population-based cohorts J.M. Kerkhof, M.Sc., A.G. Uitterlinden,

Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR Assay Thomas.

Genomewide Association Analysis of Human Narcolepsy and a New Resistance Gene Minae Kawashima, Gen Tamiya, Akira Oka, Hirohiko Hohjoh, Takeo Juji, Takashi.

Haplotype Block Partition with Limited Resources and Applications to Human Chromosome 21 Haplotype Data Kui Zhang, Fengzhu Sun, Michael S. Waterman,

Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene Jerry Vockley, Peter K. Rogan,

A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea Fernando L. Mendez, Joseph C.

Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes

Fang Wang, Yunfeng Wang, Jie Ding, Jiyun Yang Kidney International

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia Paul.

Qing Cheng, Cheng Cheng, Kristine R. Crews, Raul C

Mitochondrial DNA as a Cancer Biomarker

Presentation transcript:

Genome-wide Association Scan Identifies a Prostaglandin-Endoperoxide Synthase 2 Variant Involved in Risk of Knee Osteoarthritis Ana M. Valdes, John Loughlin, Kirsten M. Timms, Joyce J.B. van Meurs, Lorraine Southam, Scott G. Wilson, Sally Doherty, Rik J. Lories, Frank P. Luyten, Alexander Gutin, Victor Abkevich, Dongliang Ge, Albert Hofman, André G. Uitterlinden, Deborah J. Hart, Feng Zhang, Guangju Zhai, Rainer J. Egli, Michael Doherty, Jerry Lanchbury, Tim D. Spector The American Journal of Human Genetics Volume 82, Issue 6, Pages 1231-1240 (June 2008) DOI: 10.1016/j.ajhg.2008.04.006 Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 1 Study Strategy Used for Discovery and Replication The American Journal of Human Genetics 2008 82, 1231-1240DOI: (10.1016/j.ajhg.2008.04.006) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 2 Expression of PLA2G4A and PTGS2 in Chondrocytes PTGS2 and PLA2G4A gene expression was tested by RT-PCR on mRNA obtained from freshly isolated knee-cartilage chondrocytes from five OA patients. The primers amplified a 330 bp PTGS2 PCR product and a 650 bp PLA2G4A PCR product. Human placenta and normal synovium were used as noncartilage control tissues. Water was used as negative control. The American Journal of Human Genetics 2008 82, 1231-1240DOI: (10.1016/j.ajhg.2008.04.006) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 3 Position on Chromosome 1 of the PTGS2 and PLA2G4A Genes, rs4140564 and rs5275 SNPs The LD block for rs4140564 (from Perlegen Genome browser build36) is shown, as are the frequencies of rs5275-rs4140564 haplotypes in UK samples. The American Journal of Human Genetics 2008 82, 1231-1240DOI: (10.1016/j.ajhg.2008.04.006) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 4 Allelic Expression Analysis at PTGS2 SNP rs5275 Expression analysis was carried out for nine UK patients who had severe end-stage OA with RNA extracted from articular cartilage. For each patient, 19 (patient 1) or 20 (patients 2–9) individual cDNA amplifications and SBE reactions were performed. Forty-five individual PCR and SBE reactions were performed for genomic DNA (five reactions per patient). The cDNA allelic ratios were compared with the 45 genomic ratios with a two-tailed Mann-Whitney exact test. Four patients had undergone a THR (H), and five patients had undergone TKR (K). Data shown are the mean +SD, ∗p < 0.005; ∗∗∗p < 1.0 × 10−6. The American Journal of Human Genetics 2008 82, 1231-1240DOI: (10.1016/j.ajhg.2008.04.006) Copyright © 2008 The American Society of Human Genetics Terms and Conditions