Transcript The Science of Community Engagement among the

Ida J. Spruill PhD, RN, LISW
May 13, 2010

The People

The Community

Project SuGar & The Science

Outcomes & Results
(Overview of South Carolina and the Gullah population)
(Community Engagement/Involvement )
scan)
(GWAS)
(UCP 3 gene) (Linkage
Cultural and
Historical Link
Funding: W.M.Keck Foundation, NIH:DK4761,
ADA,GENNID
There are ethnic differences in the
pathophysiology of the Metabolic
Syndrome and Diabetes
The Increased risk of Diabetes in
African Americans has a genetic
basis.
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SCIENCE
Ascertain sib-pairs and pedigrees with T2DM, Obesity
Phenotype: anthropometrics, glucose tolerance, lipids,
blood pressure, health beliefs/practices
Study genes contributing to T2DM and Obesity in a
homogeneous African-derived population: whole
genome scan, candidate genes
SERVICE
Health education, disease screenings, health fairs,
referrals
COBRE, MUSC Dept of Medicine
Create a Diabetes Registry/DNA of
400 affected African American
families
Scientific Aims:

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Isolate and Identify diabetes and obesity genes
Linkage Analysis
Genome-Wide Association Study (GWAS)
Community:

Use Community-Based Participatory Research
(CBPR) principals to engage the community
•PIs: W.T. Garvey
•Jtoyika Fernandes
Human Physiology
•Citizen’s Advisory
Committee Members
Steve Willi
Lidia Maianu
Penny Wallace
Genetics & Molecular
Amy Hutto
Kerry Lok
George Argyropoulos
Sara Shaughnessy
Angela Brown
Community-Based
Research
Soonho Kwon
Pamela Binns
Ida Spruill
Jyotika Fernandes
David McLean
Ann Smuniewski
Kerin McCormack
Gloria Smith
Kirby Smith
Yuchang Fu
Helliner Vestri
Julian Munoz
Deborah Daniels
Statistical Genetics
Andrea Collins
Michele Sale (UVa)
Pam Wilson
Carl Langefeld (WFU)
Susan Cromwell
Don Bowden
(WFUStatistical
Genetics
Fredrika Joyner
Karen Small
Gwen Maine
Mattie Wideman
Lingyi Lu (WFU)
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Affected biological sib pairs > 18 years of
age
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One living biological parent with T2DM
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Born or raised on the Sea Islands
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Biological parents born or raised on Sea
Islands
Charleston
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Minimal genetic admixture (Pollitzer 1999,
Garvey,2001) (<3.5%)
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Geographical isolation and cultural identity
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Large stable multi-generational families
Admixture Estimate
Population
(%±SE)
Gullah Sea Islanders
3.5 ± 0.8
Charleston
Mississippi delta
9.8 ± 1.2
13.3 ± 1.9
Chicago
18.8 ± 1.4
New York
19.8 ± 2.1
Pittsburgh
Baltimore
New Orleans
Jamaica
25.2 ± 2.7
15.5 ± 2.6
22.5 ± 1.6
6.8 ± 1.3
Parra et al, Am J Physical Anthropol, 114:18, 2001
Parra et al, Am J Hum Genet, 63:1839, 1998

High prevalence and relative risk for T2DM,
obesity, hypertension, lupus, prostate cancer
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Uniform diet and lifestyle (maximize
expression of disease in patients with
susceptibility genes) (Garvey,1996)
• Non-Hispanic
Blacks : 13.1%
• Non Hispanic
Whites: 8%
Most of the newly-identified
diabetes genes do not play
a major role in diabetes
risk in African Americans
BRRSS,2006
Project SuGar / CPR
(Spruill,I.2005)
Community
Our Approach to the
Community
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Plan a socio-cultural assessment of the community
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Study the culture and strengths of the community
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Identify gaps in services
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Acknowledge the different subcultures
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Involve community in initial research plan
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Match research staff to study population
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Organize a citizen advisory committee
17
.
Community Services
Free Screening
COMMUNITY SProject SuGar Mobile
Project Sugar
mobile unit
650 Families recruited
Female
Married
Attended High School
Have Insurance
Preferred learning in Groups
21
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Diabetes is Inherited: 61.1%
Diabetes is prevented: 66.6%
11.8% use Home Remedies
Most Common Remedies
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Garlic *
Ho-hung tea
Vinegar and water
Cinnamon *
Goldenseal tea
*Cited in literature as effective
Referral to Ancillary Services
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Diabetes class & dietician : 41.1%
Ophthalmologist : 32.8%
Dentist : 22.3%
Podiatrist :12.8%
Self Management Behaviors
◦ Reported Exercising : 55.6%
◦ Monitored blood glucose daily: 27.7%
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Communication patterns reflect social customs of the
South (wear mask, no eye contact)
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Language patterns ,I ain’t claiming it", falling off for
losing weight
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Practice patterns, “ If you on the needle, your sugar is
bad”,
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“Make do with what you have”,
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“You need to know which roots, herbs to use for sugar
and pressure”
Has the potential to play an important role in
energy balance and determination of body
weight. Allele frequencies were determined and
found to be similar in Gullah-speaking African
Americans and the Mende tribe of Sierra Leone, but
absent in Caucasians.
Manuscript: Effects of Mutations in the Human Uncoupling Protein 3 Gene on the
Respiratory Quotient and Fat Oxidation in Severe Obesity and Type 2 Diabetes George
Angelopoulos,*et,al. (1998) J.Clin Invest,102,(7)
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Helps store metabolic fuel more efficiently.
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Increased stored fuel (i.e., fat) is advantageous in
environment where intermittent access to food
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Can lead to weight gain and obesity in an
environment where food is plentiful
2007: A
breakthrough
year in
diabetes
genetics,
Frayling TM. Nat Rev Genet
2007 Sep; 8:657-62
T2DM genes
found :
C3,(2000)
C1, (2003)
C10,(2006)
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Genetic linkage analysis is a statistical method
that is used to associate functionality of genes to
their location on chromosomes.
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DNA submitted toThe Center for Inherited Disease Research
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426 families (2-7 members)
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Sib-pair study design with (834 Affected ), (194 Unaffected )
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Analysis: MERLIN (computer program)
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Chromosomes: 14q and C7 in the Gullah population.
(Implication for personalized medicine)
Key phenotypes: Type 2 Diabetes,
BMI, NMR
Statistical Genetics: Michele Sale (Univ of Va) and Carl Langefeld (WFU)
C7
C 14
Genome Wide Gene Association Studies (GWAS) Can
Identify Complex Disease Genes
Saxena, R. et al. Genome-wide association analysis identifies loci
for type 2 diabetes and triglyceride levels. Science 316, 1331–1336
(2007).
Broad Institute, Lund U, Novartis
Scott, L. J. et al. A genome-wide association study of type 2 diabetes
in Finns detects multiple susceptibility variants. Science 316, 1341–
1345 (2007).
U of Helsinki, CIDR UCLA, NHGRI, U Michigan
Sladek, R. et al. A genome-wide association study identifies novel risk
loci for type 2 diabetes. Nature 445, 881–885 (2007).
McGill U, INSERM,
Type 2 Diabetes Genes
GENE
Chromo- Mode of ID
some
Previous
Evidence
Evidence from
Human Physiology
PPARG
3
Candidate
Drug target
Insulin sensitivity
KCNJ11
12
Candidate
Drug target
Insulin secretion
17
Candidate/
linkage
Monogenic
diabetes
MODY, Insulin secretion
4
Candidate/
Linkage
Monogenic
diabetes
Wolfram Syndrome
10
Linkage then
region-wide AS
none
Insulin secretion
GWAS
Pancreas
development
Insulin secretion
TCF2
WFS1
TCF7L2
HHEX-IDE
10
SLC30A8
8
GWAS
none
Insulin secretion
CDKAL1
6
GWAS
none
Insulin secretion
GWAS
Reduced islet
mass in mice
(Coronary Artery
Disease)
CDKN2A-2B
9
IGF2BP2
3
GWAS
Binds IGF2
FTO
16
GWAS
none
BMI/obesity
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Identified as a major new diabetes gene on C-10 by
Grant et al. Nat Genet 2006 March; 38: 320-323
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Shown to have a role in impairment of insulin
secretion (rather than a defect in insulin action in peripheral tissues)
 Play a major role in T2DM risks in African Americans
(Lyssenko et al. J Clin Invest. 2007 Aug; 117:2155-63) (Diabetes,2009,UNC)
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Do Not play a major role in T2DM risks in the Gullah
population (Seale,2008)
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Powerful research tools for identifying genetic variants that
contribute to health and disease.
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To identify common genetic factors that influence health and
disease.
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The study of genetic variation across the entire human genome that
is designed to identify genetic associations with observable traits
(such as blood pressure or weight), or the presence or absence of a
disease or condition.
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Potential for increased understanding of basic biological processes
affecting human health, and the promise of personalized medicine.
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Genotyping phase using the Affymetrix 6.0 product
is scheduled to commence very soon, and
anticipated to take 6-8 weeks.
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Currently harmonizing the phenotypic datasets
from the different studies. (PS/SIGNET) (Jackson
Heart,) (Wake Forest)
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Actual relevance for health outcomes is yet to be
seen. (M.Sale)
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The classic Metabolic Syndrome trait cluster is not
operative in a population of African Americans with
little European genetic admixture,
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Different criteria for identifying metabolic risk should
be developed as a function of race/ethnicity,
perhaps based on ancestral genetic admixture,
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Susceptibility genes can be unique or exert
differential effects on metabolic traits as a function
of race/ethnicity
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Exercise and diet are good for everyone!!!!!!!!!!
1.
2.
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M. Sale /(Molecular Geneticist) PI/ R01 Genetic
contributors to Diabetes and Dyspipdemia in
African Americans
I. Spruill Minority Supplement/ Qualitative
component:
What is the likelihood that an individual will change his or her health
behaviors if they have knowledge of a genetic susceptibility?
What is the best format and source for presenting genetic information?
3. J.
Fernandes
( Re contact to obtain estimates of the prevalence of
diabetes complications and co morbidities in Project Sugar participants
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Community: Staffing, engagement
Plan: Flexible protocol,direct,active
recruitment
Rewards: Services to the Community
Non-traditional family styles
Blood relatives vs fictive kin
Ask the Right questions
Birth parents vs who raise you
“What you tell me is in private”
Flexible Protocol
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Recruit extended family members
Compensation
Weekend after hours
Inform consent read to participants
Direct and active recruitment
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Always provide a tangible service to the
community, (SuGar Bus)
 Find ways to keep the community engaged
(attend a local church) Cultural events, Speaking engagements
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Share results/finding with community (quarterly
newsletter)
•You must have patience,
•Acknowledge Altruism within
the culture
• “(I am doing this so my grand
kids don’t have to suffer)”
•Identify the gatekeeper in the
family