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Human Variation, Health Disparities,

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Human Variation, Health Disparities, & 'Race': What we know and what we don't know ... in blacks is a unique malady characterized by a different natural history, ... – PowerPoint PPT presentation

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Title: Human Variation, Health Disparities,


1
Human Variation, Health Disparities, Race
What we know and what we dont know Richard S.
Cooper, MD Department of Preventive Medicine
Loyola Stritch School of Medicine
2
Health Status Measures in US Racial/Ethnic
Groups, 1998
White Black Hispanic Asian
Cause of Death Age
Adjusted Death Rates
450.4 121.9 79.2 23.3 121.0 21.9 12.7 12.0 2.6
690.9 183.3 92.5 41.4 161.2 17.7 17.4 28.8 20.6
432.8 84.2 54.7 19.0 76.1 8.5 9.8 18.4 6.2
264.6 67.4 42.9 22.7 74.8 7.4 10.3 8.7 0.8
All Causes Hearth Disease Coronary Heart
Disease Stroke Cancer COPD Pneumonia /
Influenza Diabetes mellitus HIV infection
Infant Mortality (/1000) Life Expectancy
6.0 77.3
13.6 71.3
5.8 gt80?
5.5 gt80?
3
Health Status Measures in US Racial/Ethnic Groups
200
20
150
15
100
Death Rate per 100,000
Infant Mortality per 1,000
10
50
5
0
Heart Disease
0
Stroke
Hispanic
Asian
White
Black
Cancer
Diabetes Mellitus
HIV Infection
External Causes
Infant Mortality
4
Infant Mortality by Race/Ethnicity US, 1995 - 1998
16
14
Blacks
12
10
American Indians
8
Whites
6
Asian
4
1995
1996
1997
1998
5
Low Birthweight and Very Low Birthweight White,
Blacks and Hispanics US, 1990 - 2000
Blacks
Whites
Hispanics
Very Low Birthweight
Low Birthweight
14
3.5
3.0
12
2.5
10
2.0
8
1.5
6
1.0
0.5
4
2000 1999 1998 1997 1996 1995 1994 1993 1992
1991 1990 1989
2000 1999 1998 1997 1996 1995 1994 1993
1992 1991 1990 1989
6
Percentage of U S children age 1 5 with blood
lead gt 10 mg/dl
Percent White 2.3 Black
11.2 Mexican-American 4.0 NHANES III
7
Hypertension in HDFP, by Race and Education
50 40 30 20 10
Whites
Blacks
Hypertensive (DBP ? 95 mmHg)
0
lt 10 10-11 12 Some College years
years years College Grad
Educational Level
8
Ethnic and Socioeconomic Differences in
Cardiovascular Disease Risk Factors
Winkleby et al. JAMA, 1998280-356-362
To our knowledge, this article is one of the
first to document higher levels of CVD risk
factors among black and Mexican American women
than among white women of comparable age and SES.
We hypothesized that ethnic minority status
would be associated with higher levels of CVD
risk factors, but that the associations would be
explained substantially by SES. Our hypothesis
was not confirmed.
9
The CDC Office of Genetics and Disease Prevention
Provides a Press Release..
The elevated risk of CV disease in minority
women, long thought to be primarily the result of
SES, may well be more closely related to race
than once believed, researchers at Stanford
report this week in JAMA. Differences in
blood pressure, body mass index and diabetes
persisted.. even after adjusting for years of
education, indications that race itself plays a
role.. (leading) the researchers to say that
genetic factors may come into play.
10
SES, Race and Mortality
Age-Adjusted Death Rate
SES vs. Death Rate
Blacks
Whites
Black

White
Power/Wealth/Privilege
11
Race and Mortality, Expected Results
After Adjustment for SES
Age-Adjusted Death Rate
SES vs. Death Rate
Blacks
Whites
Black

White
Power/Wealth/Privilege
12
Race and Mortality, Actual Results
After Adjustment for EDUCATION
Age-Adjusted Death Rate
SES vs. Death Rate
Blacks
Whites
Black

White
Power/Wealth/Privilege
13
Rates of Low Birthweight in Blacks Whites,
by Education Georgia , 1980 - 87
180 160 140 120 100 80 60 40 20 0
Blacks
Whites
Low Birth WT ()
12
lt12
gt12
Years of Education
14
Rates of Low Birthweight in Blacks, by
Education Marital Status
200 180 160 140 120 100 80 60 40 20 0
Unmarried
Married
Low Birth WT / 1,000
12
lt12
gt12
Years of Education
15
Rates of Low Birthweight in Whites, by
Education Marital Status
180 160 140 120 100 80 60 40 20 0
Unmarried
Married
Low Birth WT / 1,000
12
lt12
gt12
Years of Education
16
Prevalence of Hypertension Among Six Populations
of West African Origin ICSHIB, 1995
0
.
4
0
0
.
3
5
0
.
3
0
0
.
2
5
Percent Hypertensive
0
.
2
0
0
.
1
5
0
.
1
0
0
.
0
5
0
.
0
0
M
a
y
w
o
o
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a
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b
a
d
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N
i
g
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i
a
C
a
m
e
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17
Hypertension by Body Mass Index Among Populations
of West African Origin ICSHIB, 1995
18
Hypertension Prevalence in the US, Canada,
and Europe, by Age Group
100
90
80
70
60
Hypertension Prevalence ()
50
40
Germany
Finland
30
Spain
Italy
England
20
Sweden
USA
10
Canada
0
35-lt45
45-lt55
55-lt65
65-lt75
Age (years)
19
Age- and Gender- Adjusted Hypertension
Prevalence, by Country and Race
60
50
40
Hypertension Prevalence ()
30
20
10
0
Jamaica
Nigeria
US White
Sweden
Italy
England
US Black
Spain
Finland
Germany
Ages 35-64
20
Lesser Response of ACE-I in Blacks Exner et al
NEJM, 2001
Death from Any Cause ()
Hospitalization for Heart Failure ()
21
Heart Failure and Race . . .
Heart failure in blacks is a unique malady
characterized by a different natural history,
more worrisome prognosis, and potential variances
in the response to current medical therapy for
heart failure Certain genetic polymorphisms may
exist that explain the observed
differences. C.Yancy, The Role of Race in Heart
Failure Therapy. Curr Cardiol Rep 2002
22
Relative Risk, Enalapril vs. Placebo for
Progression to Heart Failure, SOLVD
Blacks RR (95 CI) 0.67 (0.49-0.92)
0.71 (0.54-0.95)
0.83(0.60-1.16)
Whites RR (95 CI) 0.61(0.53-0.70)
0.70 (0.62-0.78)
0.82 (0.71-0.94)
Heterogeneity of Effect
Unadjusted P-value 0.50

0.72 0.71
Adjusted P-value 0.66
0.74 0.82
Development of Symptoms of Heart Failure Death or
Development of Symptoms of Heart Failure Death or
First Hospitalization for Heart Failure
Dries, et al JACC, 2002
23
Trends in the Number of Black Men
in College and in Prison
9
8
7
6
In College
5
4
In Prison
3
2
1
0
x 106 1980
1992 2000
24
The Biological Determinist Hypothesis as Applied
to Race
Genotype
Increased Criminal Behavior
Increased Risk of Incarceration
AA
Decreased Criminal Behavior

Average Risk of Incarceration
aa
AA more common in blacks aa more common in
whites
25
The Interaction of Genes and Social Forces
Social Forces
Genotype
High Skin Melanin
Increased Risk of Incarceration
AA
Low Skin Melanin
Average Risk of Incarceration
aa
26
The Interaction of Genes and Social Forces
Social Forces
Genotype
Increased Risk of Hypertension, Heart disease,
Cancer, etc
High Skin Melanin
AA
Average Risk of Hypertension, Heart disease,
Cancer, etc
Low Skin Melanin
aa
27
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28
Genetics and Public Health
(T)he real challenge for the NHGRI is to build
bridges between its grantees and therapeutics.
Notwithstanding biologists deep desire to
understand the genome, their most immediate
challenge is to make it relevant to public heath.
The relevance will not be found by identifying
genes associated with rare diseases . . but by
(tackling) the common, complex diseases. Editor
ial, Nature Genetics, Feb., 2002
29
Incorporating DNA Science into Public
Health
Germ Theory Antimicrobials X-rays
Vaccination Biochemistry ?
Molecular Genetics
30
Potential Impact of Molecular Genetics on
Medicine and Public Health
  • Prenatal screening / Diagnostic testing
  • Gene therapy
  • Define susceptibility to common disease
  • Drug discovery / Predicting drug response
  • Explain health disparities

31
Incidence of ß-Thalassemia in Sardinia, Greece
and Cyprus, 1975 - 2000
32
What is Race? Assumes structure in the
genome- Variants at one locus are correlated
with variants in other regions, creating distinct
packages or correlated patterns among
sub-populations. In non-human species requires
Fst gt 0.15. (Fst proportion of variance within
vs. between groups.)
33
Questions about Race
  • Based on population genetics, is continental race
    a valid category?
  • 2. Is continental race a useful category for
    biomedical research?

34
In biomedicine, we want to know, Can race . . .
  • Be used to guide drug therapy?
  • 2. Help us understand the causes of disease?
  • 3. Categorize patients in terms of disease
    progression or pathophysiologic processes?

35
Categorization of humans in biomedical research
genes, race and disease.


Risch N, et al. Genome Biology 20023/7/comment
2007.1-2007.12
- Genetic studies have recapitulated the
classical definition of races based on
continental ancestry - Genetic differentiation
is greatest when defined on a continental
basis - If biological is defined by
susceptibility to and natural history of a
chronic disease, than numerous studies over past
decades have documented biological differences
among races

36
Race as a guide to drug therapy . . .
Variation in Cytochrome P450 Gene Variants
Populations Allele Frequency ()
Gene A B C D CYP1A2 34 31
40 41 CYP2C19 9 37 27
25 CYP2D6 53 39 70 30 Wilson
et al, Nature Genetics 2001
37
Race as a guide to drug therapy . . .
Genetic variants that alter drug metabolism vary
among populations . . . But virtually never in an
all or-none-pattern. For race to be a surrogate
for a variant, you need high (gt 90) sensitivity
AND specificity. If you want to know whether a
patient has a variant you have to test for it.
38
Does cluster analysis reconstruct races?
39
Estimated World Population Structure Based on 52
Populations (Rosenberg et
al, Science, 2002)
40
Does cluster analysis reconstruct races?
  • Conditional on
  • number of samples
  • geographic distribution
  • type of markers microsatellites vs. SNPs

41
Does continental race summarize genetic variation
of medical relevance?

42
Distribution of Single Gene Disorders Tay
Sachs mainly in persons of Jewish
descent Cystic Fibrosis northern
Europeans Thalessemia extends from Italy to
Thailand Sickle cell much of sub-Saharan
Africa (but not South Africa), many Arab
groups and across to India Distribution of
Common Complex Disorders World wide, and
common in all racial groups Eg, Hypertension
lifetime incidence risk 80 in the US
43
Does continental race summarize genetic variation
of medical relevance?
  • rare diseases cluster in sub-populations, not
    race common diseases do not cluster by race
  • continental race is not the population unit of
    interest
  • geographic variation within race is important
  • social/cultural heterogeneity within race is
    more important for common disease

44
Types of Genetic Effects Likely to be Encountered

Nature of the Effect Frequency of Occurrence
Large, single gene Rare Moderate, a few
genes Infrequent Small, many genes Ubiquitous

45
Relationship Between the Impact of a Specific
Genetic Polymorphism and Prevalence of the
Related Disease
Role of a Specific Genetic Variant
Prevalence of Disease
46
Competing Hypotheses for Genes and Common
Disease
Common Disease Common Variants, or Common
Disease Many Rare Variants
47
Haplotype Patterns and Exchanges in Three
Chromosomal Blocks (The structure of haplotype
blocks across the human genome, Gabriele et al,
Science, in press.
48
Comparison of Haplotype Blocks Across Population
Samples Gabriel et al, Science 2002
49
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50
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52
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53
Whose Genome Is It After All? Studying
Differences vs. Studying Similarity
54
The Jeffersonian
Genome
Observed Trait
Genome
? IQ ? BP
55
The Anthropologists Genome
Cavalli-Sforza, The Great Human Diasporas
56
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57
The absolute equality of races physical,
political and social is the founding stone of
human advancement. W.E.B. DuBois, 1921
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