Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids)

[1]  V. Khullar,et al.  Association between joint hypermobility and pelvic organ prolapse in women: a systematic review and meta-analysis , 2016, International Urogynecology Journal.

[2]  D. Hinds,et al.  A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia , 2022 .

[3]  Jennifer M Wu,et al.  Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women’s Health Initiative , 2015, PloS one.

[4]  M. Stoffel,et al.  The Lin28/let-7 axis is critical for myelination in the peripheral nervous system , 2015, Nature Communications.

[5]  L. Salnikova,et al.  Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations , 2015, BioMed research international.

[6]  David L Streiner,et al.  Best (but oft-forgotten) practices: the multiple problems of multiplicity-whether and how to correct for many statistical tests. , 2015, The American journal of clinical nutrition.

[7]  S. Kardia,et al.  SLC2A9 Genotype Is Associated with SLC2A9 Gene Expression and Urinary Uric Acid Concentration , 2015, PloS one.

[8]  S. Y. Kim,et al.  Association between pelvic organ prolapse and bone mineral density in postmenopausal women , 2015, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

[9]  C. Bult,et al.  Visual annotation display (VLAD): a tool for finding functional themes in lists of genes , 2015, Mammalian Genome.

[10]  G. Page,et al.  Genetic contributions to urgency urinary incontinence in women. , 2015, The Journal of urology.

[11]  L. Cannon-Albright,et al.  Evidence for pelvic organ prolapse predisposition genes on chromosomes 10 and 17. , 2015, American journal of obstetrics and gynecology.

[12]  M. Ritchie,et al.  Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery , 2015, Current Genetic Medicine Reports.

[13]  T. Merriman.  An update on the genetic architecture of hyperuricemia and gout , 2015, Arthritis Research & Therapy.

[14]  W. Kao,et al.  Relative performance of gene- and pathway-level methods as secondary analyses for genome-wide association studies , 2015, BMC Genetics.

[15]  B. Price,et al.  Haemorrhoids are associated with internal iliac vein reflux in up to one-third of women presenting with varicose veins associated with pelvic vein reflux , 2015, Phlebology.

[16]  D. Mount,et al.  The molecular physiology of uric acid homeostasis. , 2015, Annual review of physiology.

[17]  Phillip R. Bennett,et al.  Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women , 2015, American journal of obstetrics and gynecology.

[18]  Judith A. Blake,et al.  The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease , 2014, Nucleic Acids Res..

[19]  Zhan Ye,et al.  Phenome-wide association studies (PheWASs) for functional variants , 2014, European Journal of Human Genetics.

[20]  L. Cannon-Albright,et al.  Clinical characteristics of women with familial pelvic floor disorders , 2015, International Urogynecology Journal.

[21]  S. Grässel,et al.  The role of peripheral nerve fibers and their neurotransmitters in cartilage and bone physiology and pathophysiology , 2014, Arthritis Research & Therapy.

[22]  Rebecca N. Jerome,et al.  Genetic epidemiology of pelvic organ prolapse: a systematic review. , 2014, American journal of obstetrics and gynecology.

[23]  S. Kurt,et al.  Can striae be used as a marker for the prediction of pelvic organ prolapse? , 2014, European journal of obstetrics, gynecology, and reproductive biology.

[24]  S. Kahn,et al.  Genetic polymorphisms of vein wall remodeling in chronic venous disease: a narrative and systematic review. , 2014, Blood.

[25]  Z. Wen,et al.  Genome-wide association study combined with biological context can reveal more disease-related SNPs altering microRNA target seed sites , 2014, BMC Genomics.

[26]  J. Sundquist,et al.  Venous Thromboembolism and Varicose Veins Share Familial Susceptibility: A Nationwide Family Study in Sweden , 2014, Journal of the American Heart Association.

[27]  K. Itahana,et al.  The uric acid transporter SLC2A9 is a direct target gene of the tumor suppressor p53 contributing to antioxidant defense , 2014, Oncogene.

[28]  M. Mori,et al.  Risk Factors for Urinary Incontinence in Japanese Elderly Women , 2014, Lower urinary tract symptoms.

[29]  M. Mete,et al.  The Association of Vaginal Wind and Abdominal Striae with Pelvic Organ Prolapse , 2014 .

[30]  M. Ballmaier,et al.  MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations , 2014, Human mutation.

[31]  Peggy Hall,et al.  The NHGRI GWAS Catalog, a curated resource of SNP-trait associations , 2013, Nucleic Acids Res..

[32]  R Core Team,et al.  R: A language and environment for statistical computing. , 2014 .

[33]  Melissa A. Basford,et al.  Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data , 2013, Nature Biotechnology.

[34]  C. Maher,et al.  Epidemiology and outcome assessment of pelvic organ prolapse , 2013, International Urogynecology Journal.

[35]  L. Almasy,et al.  Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans , 2013, Front. Genet..

[36]  H. Ashraf,et al.  The association between women's pelvic organ prolapse and joint hypermobility. , 2013, JPMA. The Journal of the Pakistan Medical Association.

[37]  Lorna M. Lopez,et al.  Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations , 2013, PLoS genetics.

[38]  J. Sundquist,et al.  Shared and nonshared familial susceptibility to surgically treated inguinal hernia, femoral hernia, incisional hernia, epigastric hernia, and umbilical hernia. , 2013, Journal of the American College of Surgeons.

[39]  Victoria L Handa,et al.  Vaginal Childbirth and Pelvic Floor Disorders , 2013, Women's health.

[40]  N. Eriksson,et al.  Genome-Wide Association Analysis Implicates Elastic Microfibrils in the Development of Nonsyndromic Striae Distensae , 2013, The Journal of investigative dermatology.

[41]  P. Chou,et al.  The epidemiology of urinary incontinence and it's influence on quality of life in Taiwanese middle‐aged women , 2013, Neurourology and urodynamics.

[42]  A. Davies,et al.  Pathogenesis and etiology of recurrent varicose veins. , 2013, Journal of vascular surgery.

[43]  N. Chung,et al.  Involvement of oxidative stress and mitochondrial apoptosis in the pathogenesis of pelvic organ prolapse. , 2013, The Journal of urology.

[44]  N. Kyritsis,et al.  Regenerative neurogenesis from neural progenitor cells requires injury-induced expression of Gata3. , 2012, Developmental cell.

[45]  Eurie L. Hong,et al.  Annotation of functional variation in personal genomes using RegulomeDB , 2012, Genome research.

[46]  J. Helms,et al.  Wntless functions in mature osteoblasts to regulate bone mass , 2012, Proceedings of the National Academy of Sciences.

[47]  J. Henley,et al.  Protein SUMOylation in spine structure and function , 2012, Current Opinion in Neurobiology.

[48]  Daniel L. Koller,et al.  Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture , 2012, Nature Genetics.

[49]  K. Coyne,et al.  Urinary incontinence and its relationship to mental health and health-related quality of life in men and women in Sweden, the United Kingdom, and the United States. , 2012, European urology.

[50]  G. Amato,et al.  Muscle degeneration in inguinal hernia specimens , 2012, Hernia.

[51]  L. Cannon-Albright,et al.  Identification of Six Loci Associated With Pelvic Organ Prolapse Using Genome-Wide Association Analysis , 2011, Obstetrics and gynecology.

[52]  Cameron D. Palmer,et al.  Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. , 2011, Human molecular genetics.

[53]  K. Kluivers,et al.  The prevalence and factors associated with previous surgery for pelvic organ prolapse and/or urinary incontinence in a cross-sectional study in The Netherlands. , 2011, European journal of obstetrics, gynecology, and reproductive biology.

[54]  G. Badlani,et al.  Pelvic floor disorders: linking genetic risk factors to biochemical changes , 2011, BJU international.

[55]  D. Hoffman,et al.  DPP6 Establishes the A-Type K+ Current Gradient Critical for the Regulation of Dendritic Excitability in CA1 Hippocampal Neurons , 2011, Neuron.

[56]  K. Kluivers,et al.  Pelvic organ prolapse and collagen-associated disorders , 2011, International Urogynecology Journal.

[57]  Matko Bosnjak,et al.  REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms , 2011, PloS one.

[58]  Chuan-Yun Li,et al.  KOBAS 2.0: a web server for annotation and identification of enriched pathways and diseases , 2011, Nucleic Acids Res..

[59]  S. Rosset,et al.  The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus , 2011, Nature Reviews Nephrology.

[60]  C. McCaig,et al.  A zinc finger protein Zfp521 directs neural differentiation and beyond , 2011, Stem Cell Research & Therapy.

[61]  D. Hernandez,et al.  Multiple Genetic Loci Influence Serum Urate Levels and Their Relationship With Gout and Cardiovascular Disease Risk Factors , 2010, Circulation. Cardiovascular genetics.

[62]  J. Henley,et al.  Targets and consequences of protein SUMOylation in neurons , 2010, Brain Research Reviews.

[63]  R. Weksberg,et al.  Epigenetic Silencing of β-Spectrin, a TGF-β Signaling/Scaffolding Protein in a Human Cancer Stem Cell Disorder , 2010, The Journal of Biological Chemistry.

[64]  Gary D. Bader,et al.  The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function , 2010, Nucleic Acids Res..

[65]  Sangsoo Kim,et al.  GSA-SNP: a general approach for gene set analysis of polymorphisms , 2010, Nucleic Acids Res..

[66]  Bruce J. Aronow,et al.  ToppCluster: a multiple gene list feature analyzer for comparative enrichment clustering and network-based dissection of biological systems , 2010, Nucleic Acids Res..

[67]  Marylyn D. Ritchie,et al.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations , 2010, Bioinform..

[68]  T. Grzela,et al.  Genetic risk factors of chronic venous leg ulceration: Can molecular screening aid in the prevention of chronic venous insufficiency complications? , 2010, Molecular medicine reports.

[69]  P. Sham,et al.  Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus , 2010, PLoS genetics.

[70]  D. Moher,et al.  Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. , 2010, International journal of surgery.

[71]  M. E. Ellström Engh,et al.  Pelvic floor function is independently associated with pelvic organ prolapse , 2009, BJOG : an international journal of obstetrics and gynaecology.

[72]  Hadley Wickham,et al.  ggplot2 - Elegant Graphics for Data Analysis (2nd Edition) , 2017 .

[73]  O. Lavie,et al.  Are women with pelvic organ prolapse at a higher risk of developing hernias? , 2009, International Urogynecology Journal.

[74]  D. Moher,et al.  Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement , 2009, BMJ.

[75]  L. Cannon-Albright,et al.  Significant linkage evidence for a predisposition gene for pelvic floor disorders on chromosome 9q21. , 2009, American journal of human genetics.

[76]  Jack A. Taylor,et al.  SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies , 2009, Nucleic Acids Res..

[77]  O. Nyrén,et al.  Nonobstetric Risk Factors for Symptomatic Pelvic Organ Prolapse , 2009, Obstetrics and gynecology.

[78]  C. Fegan,et al.  Higher prevalence of thrombophilia in patients with varicose veins and venous ulcers than controls. , 2009, Journal of vascular surgery.

[79]  P. Lichtenstein,et al.  Genetic influence on stress urinary incontinence and pelvic organ prolapse. , 2008, European urology.

[80]  Min-Hua Zheng,et al.  Expression of the transcription factor GATA3 in the postnatal mouse central nervous system , 2008, Neuroscience Research.

[81]  Sylvia Wassertheil-Smoller,et al.  Association of pelvic organ prolapse and fractures in postmenopausal women: analysis of baseline data from the Women's Health Initiative Estrogen Plus Progestin trial , 2008, Menopause.

[82]  Orla Hardiman,et al.  A genome-wide association study of sporadic ALS in a homogenous Irish population. , 2007, Human molecular genetics.

[83]  S. Sobhgol,et al.  Related factors of urge, stress, mixed urinary incontinence and overactive bladder in reproductive age womenin Tabriz, Iran: a cross-sectional study , 2008, International Urogynecology Journal.

[84]  Thomas A Trikalinos,et al.  The appropriateness of asymmetry tests for publication bias in meta-analyses: a large survey , 2007, Canadian Medical Association Journal.

[85]  K. Csiszȧr,et al.  Pelvic organ prolapse in fibulin-5 knockout mice: pregnancy-induced changes in elastic fiber homeostasis in mouse vagina. , 2007, The American journal of pathology.

[86]  A. Kimball,et al.  Striae and pelvic relaxation: two disorders of connective tissue with a strong association. , 2006, The Journal of investigative dermatology.

[87]  Hubing Shi,et al.  The angiogenic function of nucleolin is mediated by vascular endothelial growth factor and nonmuscle myosin. , 2006, Blood.

[88]  B. Schuessler,et al.  Anatomy of the sigmoid colon, rectum, and the rectovaginal pouch in women with enterocele and anterior rectal wall procidentia , 2005, Clinical anatomy.

[89]  D. Abraham,et al.  Connective tissue remodeling: cross-talk between endothelins and matrix metalloproteinases. , 2005, Current vascular pharmacology.

[90]  T. Andrew,et al.  Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs , 2005, Journal of Medical Genetics.

[91]  C. Colnot,et al.  Mepe is expressed during skeletal development and regeneration , 2004, Histochemistry and Cell Biology.

[92]  D. Santini,et al.  Abnormalities of somatic peptide-containing nerves supplying the pelvic floor of women with genitourinary prolapse and stress urinary incontinence. , 2004, Urology.

[93]  R. Holzheimer.  Hemorrhoidectomy: indications and risks. , 2004, European journal of medical research.

[94]  P. Shannon,et al.  Cytoscape: a software environment for integrated models of biomolecular interaction networks. , 2003, Genome research.

[95]  Patrick F Sullivan,et al.  False discoveries and models for gene discovery. , 2003, Trends in genetics : TIG.

[96]  J. Schaffer,et al.  Morphometric properties of the posterior vaginal wall in women with pelvic organ prolapse. , 2002, American journal of obstetrics and gynecology.

[97]  Thomas C. Südhof,et al.  RIM1α forms a protein scaffold for regulating neurotransmitter release at the active zone , 2002, Nature.

[98]  Corinne Antignac,et al.  Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. , 2002, Journal of the American Society of Nephrology : JASN.

[99]  M. Permutt,et al.  Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity , 2001, Human mutation.

[100]  I. Olkin,et al.  Meta-analysis of observational studies in epidemiology - A proposal for reporting , 2000 .

[101]  James Douglas Engel,et al.  Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system , 2000, Nature Genetics.

[102]  K. Rinne,et al.  What predisposes young women to genital prolapse? , 1999, European journal of obstetrics, gynecology, and reproductive biology.

[103]  J. Lechner.  A zinc finger protein , 1994 .

[104]  P. Beighton,et al.  Hypermobility of joints , 1983 .