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Office of Genomics and Disease Prevention

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
triangle bullet Apolipoprotein E Polymorphism and Cardiovascular Disease
~~ Link 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
~~ Link 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

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)

Last Updated October 12, 2004