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Human Heredity, the Environment and Disease: Nature and Nurture National Human Genome Research Institute Emily L. Harris, Ph.D., M.P.H. Epidemiologist, Office of Population Genomics National Human Genome Research Institute May 1, 2007 National Institutes of Health

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Human heredity the environment and disease nature and nurture l.jpg

Human Heredity, the Environment and Disease: Nature and Nurture

National Human Genome Research Institute

Emily L. Harris, Ph.D., M.P.H.Epidemiologist, Office of Population Genomics

National Human Genome Research Institute

May 1, 2007

National Institutes of Health

U.S. Department of Health and Human Services


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Nature and Nurture:

Causal models & inferences from studying populations


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A Continuum of Causation

Genes (or nature)

Environment (or nurture)


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Height

AND


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Nature and Nurture:

Causal models & inferences from

studying populations

Question: What causes the differences in height among individuals?


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Height

AND


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Height

AND

Nutrition (environment)


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Height

AND


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Height

AND

Genes


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Height

AND


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Height

AND

Genes & Environment


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Nature and Nurture:

Causal models & inferences from

studying populations

Question: What causes the differences in height among individuals?

Conclusion: Depends on the population(s) studied.


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Nature and Nurture:

Multifactorial models in

complex diseases

Example: Cancer


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Most Cancer Is NOT Inherited

All Breast Cancer Patients

Known Inherited Factor

Unknown Factor(s)


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Chemical Bases in DNA

Gene

Chemical bases

DNA molecule (chromosome)

A

T

C

G


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Altered DNA->Altered Protein

Cell membrane

DNA

Nucleus

Chain of amino acids

DNA bases

mRNA

Gene

Protein

Ribosome


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Many Mutations Lead to Cancer

Normal

Cell

First

Mutation

Second

Mutation

Third

Mutation

Malignant Cells

Fourth or

Later Mutation


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Most Cancer Is NOT Inherited

All Breast Cancer Patients

Known Inherited Factor

Unknown Factor(s)


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Factors affectingCancer Development & Progression

  • Oncogenes (cancer promoting)

  • Tumor suppressor genes

  • Carcinogen metabolism genes

  • Immune surveillance for abnormal cells


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Some Factors affectingCancer Development & Progression

  • Oncogenes (cancer promoting)

  • Tumor suppressor genes

    • E.g., DNA repair proficiency

  • Carcinogen metabolism genes

  • Immune surveillance for abnormal cells


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DNA Repair & Cell Pathology

Author: Harold Brenner


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Lifespan-influencing Genes& DNA Repair

Author: Harold Brenner


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A Continuum of Causation

Genes (or nature)

Environment (or nurture)


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