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HuGENetT

HuGE Fact Sheets

Human Genome Epidemiology (HuGE) Fact Sheets summarize information about a particular gene, its variants, and associated diseases.

We invite authors to write fact sheets in their area of expertise. See Guidelines and Instructions for Writing a HuGE Fact Sheet.

Current Fact Sheets and related HuGE Reviews

triangle bullet ALAD Genotype and Lead Toxicity   Link to HuGE Review
   
triangle bullet Androgen Receptor Gene and Prostate Cancer
Link to HuGE Review


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  triangle bullet Apolipoprotein E Polymorphism and Cardiovascular DiseaseLink to HuGE Review
 
  triangle bullet Catechol-O-Methyltransferase (COMT) Gene and Breast Cancer
     
  triangle bullet CCR5 receptor gene and HIV infection
 
  triangle bullet FMR1 and the Fragile X Syndrome   
Link to HuGE Review
 
  triangle bullet GGSTM1, GSTT1 and Risk of Squamous Cell Carcinoma of the Head and Neck  
 Link to HuGE Review
     
  triangle bullet HLA-DPB1*E69 and Chronic Beryllium Disease  
 ink to HuGE Review
 
  triangle bullet IL2RG and Severe Combined Immunodeficiency (SCID), a Primary Immunodeficiency Disease (PID)    
Link to HuGE Review
 
  triangle bullet Mismatch Repair Genes hMLH1 and hMSH2 and Colorectal Cancer    Link to HuGE Review
     
  triangle bullet Interleukin 4 and Asthma
 
  triangle bullet Kaposi's Sarcoma and Interleukin-6
     
  triangle bullet Medium Chain Acyl-coA Dehydrogenase (MCAD) Deficiency   Link to HuGE Review

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Under Development

Infectious and Parasitic Diseases

  • HLA-DRB1 and Susceptibility or Resistance to TB
    Charlene Bryan
  • IL-10 Haplotypes and Mycobacterioses
    Antonio Guilherme F. Pacheco (University of Pittsburgh), Milton Ozório Moraes and Adalberto Rezende Santos (Fundação Oswaldo Cruz, Brazil)
  • CCR2 gene and HIV Infection
    Lily Nguyen and Snehal Ruparelia (Centers for Disease Control and Prevention)

Neoplasms

  • BRCA1 and breast cancer
  • Melanoma and CDKN2A
  • NF1 Gene and Neurofibromatosis Type 1
  • N-Acetyltransferase Polymorphisms and Colorectal Cancer
  • IGF-I Receptor Gene and Prostate Cancer
    Rovshan Ismailov
  • CYP1A1 and Lung Cancer
    Kris Peterson, Lindsay Hannan (Emory University), Jeffrey Schragin (University of Pittsburgh)
  • p53 Tumor Suppressor Gene and Lung Cancer in Smokers
    Fran Whalen
  • hPMS2 and Hereditary Non-Polyposis Colorectal Cancer
    Malak B. Bokhari (University of Pittsburgh)

Endocrine, Nutritional, and Metabolic Diseases

  • CFTR and Cystic Fibrosis
  • Melanocortin-4 Receptor Gene and Adolescent Obesity
    John Dube (Univ of Pittsburgh)
  • Insulin Gene and Type 1 Diabetes
    Aiman El-Saed (Univ of Pittsburgh)
  • IRS-1 Gene and Insulin Resistance in Type 2 Diabetes
    Andy Katsiaras
  • Hepatocyte nuclear factor-1a and maturity onset diabetes of the young type III (HNF-1a and MODY3)
    Roberta C. Wines (U of Washington), Karen Edwards (U of Washington)
  • Leptin Receptor Gene and Obesity
    Wendy King
  • HLA-DRB1 and Type 1 Diabetes
    Nicole Scott (Univ of Pittsburgh)
  • Beta 3-Adrenergic Receptor and Obesity
    Pat Wehman (Univ of Pittsburgh)
  • TYRP1 and Oculocutaneous Albinism Type 3
    Lisa Myers

Diseases of the Blood and Blood-Forming Organs

  • Hemoglobin S Allele and Sickle Cell Disease
  • P47-Phox Gene (NCF1) and Chronic Granulomatosis Disease
    Philana Lin

Mental Disorders

  • ADH2 and Alcoholism
    Marilyn Wagener
  • 5-HT2C and Bipolar Disorder
    Faina Linkov (Univ of Pittsburgh)
  • GABA Receptor Subunit Genes and Alcoholism
    Nathan Huskey (Univ of Pittsburgh)

Diseases of the Nervous System and Sense Organs

  • ApoE-E4 and Alzheimer disease
  • Amyloid Precursor Protein (APP) and Alzheimer's Disease
    Jan Cipkala-Gaffin (Univ of Pittsburgh)

Diseases of the Circulatory System

  • Angiotensin converting enzyme (ACE) and primary hypertension
    Faisel Yunus (Univ of Kuopio)
  • Bone Morphogenetic Protein Receptor II Gene and Pulmonary Hypertension
    Allison Morris-Gimbell
  • ACE and Early Coronary Heart Disease
    Irene Shtivelman

Diseases of the Genitourinary System

    CYP11a and Polycystic Ovarian Syndrome
    Catherine Wright

Complications of Pregnancy, Childbirth, and the Puerperium

  • Angiotensinogen Gene and Preeclampsia
    Janet Cantov

Diseases of the Skin and Subcutaneous Tissue

  • TGM1 and Lamellar Ichthyosis
    Marilyn Ridenour

Diseases of the Musculoskeletal System and Connective Tissue

  • CTLA-4 and SLE
    Natalya Danchenko (Univ of Pittsburgh)

Congenital Anomalies

  • Methylene-tetrahydrofolate reductase (MTHFR) and birth defects
    Helen Dorra (Univ of Pittsburgh)
  • GL 13 and Greig Syndrome
    Marshall Boak

Certain Conditions Originating in the Perinatal Period
(None at this time)

Symptoms, Signs, and Ill-Definded Conditions
(None at this time)

Injury and Poisoning
(None at this time)
Page last updated: December 11, 2007
Content Source: National Office of Public Health Genomics