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The Path from Genome-based Research to Population Health: Development of an International Public Health Genomics Network Tables

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TABLE 1: HuGE* reviews, 1999–2002
Topic Reference no.
Gene variants associated with a high risk of disease
Medium chain acyl-CoA* dehydrogenase (MCAD) deficiency
Sickle hemoglobin (HbS) allele and sickle cell disease
NF1 gene and neurofibromatosis type 1
FMR1 and the fragile X syndrome
Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer
Common complex disorders
N-Acetyltransferase polymorphisms and colorectal cancer
Glutathione S-transferase polymorphisms and colorectal cancer
GSTM1, GSTT1, and risk of squamous cell carcinoma of the head and neck
Glutathione S-transferase polymorphisms and risk of ovarian cancer
Pooled analysis and meta-analysis of GSTM1 and bladder cancer
NAD(P)H*:quinone oxidoreductase (NQO1) polymorphism, exposure to benzene, and predisposition to disease
5,10-Methylenetetrahydrofolate reductase (MTHFR) gene variants and congenital anomalies
5,10-Methylenetetrahydrofolate reductase polymorphisms and leukemia risk
Molecular epidemiology of vitamin D receptor gene variants
Apolipoprotein E polymorphism and cardiovascular disease
HLA-DQ and type 1 diabetes mellitus
HFE gene and hereditary hemochromatosis
{delta} -Aminolevulinic acid dehydratase (ALAD) genotype and lead toxicity
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss
Androgen receptor CAG repeats and prostate cancer

* HuGE, Human Genome Epidemiology; acyl-CoA, acyl coenzyme A; NAD(P)H, nicotinamide adenine dinucleotide phosphate (reduced form).

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TABLE 2: Proposed criteria for prioritizing HuGE* review topics
Public health significance of the disease (in terms of morbidity and mortality)
Availability of effective interventions for genes modulating, or thought to modulate, an exposure
Effect on pathways involved in pathogenesis of multiple diseases of public health significance (e.g., methylation, DNA repair)
Relevance to common disease with evidence of gene-environment or gene-gene interactions
High potential population attributable risk, on the basis of at least two studies

* HuGE, Human Genome Epidemiology.

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TABLE 3: Formats of HuGE* review†
Format Content
Full review
Information on gene(s), variants of gene(s) (defined, effect on function if known, and variation in genotype frequencies), disease(s), associations with disease(s), interactions, laboratory tests, population testing, other potential public health applications (e.g., setting permissible exposure thresholds), conclusions and recommendations for research,‡ references, Internet sites
Gene-disease association review
Similar to above, except that no information on the variation in genotype frequencies presented
This is appropriate when the epidemiologic aspects of specific gene(s) have already been reviewed for HuGENet™,* but the associations between the gene and a different disease are being reviewed. In the section on gene variants, a summary (with reference) of the points covered in the full review(s) relating to this gene should be presented
Prevalence review
Information on gene(s), variants of gene(s) (definition and variation in genotype frequency), laboratory tests, conclusions and recommendations for research, references, Internet sites

* HuGE, Human Genome Epidemiology; HuGE Net, Human Genome Epidemiology Network.
† Detailed instructions are available at
‡ This was not requested explicitly in the previous guidelines (15).

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