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Ida J. Spruill PhD, RN, LISW May 13, 2010. The People (Overview of South Carolina and the Gullah population) The Community (Community Engagement/Involvement.

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Presentation on theme: "Ida J. Spruill PhD, RN, LISW May 13, 2010. The People (Overview of South Carolina and the Gullah population) The Community (Community Engagement/Involvement."— Presentation transcript:

1 Ida J. Spruill PhD, RN, LISW May 13, 2010

2 The People (Overview of South Carolina and the Gullah population) The Community (Community Engagement/Involvement ) Project SuGar & The Science (UCP 3 gene) (Linkage scan) Outcomes & Results (GWAS)


4 Cultural and Historical Link

5 Funding: W.M.Keck Foundation, NIH:DK4761, ADA,GENNID

6 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.

7 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

8 Create a Diabetes Registry/DNA of 400 affected African American families Scientific Aims: 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

9 Community-Based Research Ida Spruill Ann Smuniewski Gloria Smith Deborah Daniels Andrea Collins Pam Wilson Susan Cromwell Fredrika Joyner Karen Small Gwen Maine Mattie Wideman Genetics & Molecular Kerry Lok George Argyropoulos Angela Brown Pamela Binns David McLean Kerin McCormack Kirby Smith Yuchang Fu Helliner Vestri Julian Munoz Human Physiology Steve Willi Lidia Maianu Penny Wallace Amy Hutto Sara Shaughnessy Soonho Kwon Jyotika Fernandes Statistical Genetics Michele Sale (UVa) Carl Langefeld (WFU) Don Bowden (WFUStatistical Genetics Lingyi Lu (WFU) PIs: W.T. Garvey Jtoyika Fernandes Citizens Advisory Committee Members

10 Affected biological sib pairs > 18 years of age One living biological parent with T2DM Born or raised on the Sea Islands Biological parents born or raised on Sea Islands

11 Charleston

12 Minimal genetic admixture ( Pollitzer 1999, Garvey,2001) (<3.5%) Geographical isolation and cultural identity Large stable multi-generational families

13 Population Admixture Estimate (%±SE) Gullah Sea Islanders 3.5 ± 0.8 Charleston 9.8 ± 1.2 Mississippi delta13.3 ± 1.9 Chicago18.8 ± 1.4 New York19.8 ± 2.1 Pittsburgh25.2 ± 2.7 Baltimore15.5 ± 2.6 New Orleans22.5 ± 1.6 Jamaica 6.8 ± 1.3 Parra et al, Am J Physical Anthropol, 114:18, 2001 Parra et al, Am J Hum Genet, 63:1839, 1998

14 High prevalence and relative risk for T2DM, obesity, hypertension, lupus, prostate cancer Uniform diet and lifestyle (maximize expression of disease in patients with susceptibility genes) (Garvey,1996)

15 Non-Hispanic Blacks : 13.1% Non Hispanic Whites: 8% BRRSS,2006 Most of the newly-identified diabetes genes do not play a major role in diabetes risk in African Americans

16 Community Project SuGar / CPR (Spruill,I.2005)

17 17 Our Approach to the Community Plan a socio-cultural assessment of the community Study the culture and strengths of the community Identify gaps in services Acknowledge the different subcultures Involve community in initial research plan Match research staff to study population Organize a citizen advisory committee


19 .

20 COMMUNITY S Project SuGar Mobile Project Sugar mobile unit Community Services

21 650 Families recruited Female Married Attended High School Have Insurance Preferred learning in Groups 21

22 Diabetes is Inherited: 61.1% Diabetes is prevented: 66.6% 11.8% use Home Remedies Most Common Remedies Garlic * Ho-hung tea Vinegar and water Cinnamon * Goldenseal tea *Cited in literature as effective

23 Referral to Ancillary Services 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%

24 Communication patterns reflect social customs of the South (wear mask, no eye contact) Language patterns,I aint claiming it", falling off for losing weight Practice patterns, If you on the needle, your sugar is bad, Make do with what you have, You need to know which roots, herbs to use for sugar and pressure

25 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)

26 Helps store metabolic fuel more efficiently. Increased stored fuel (i.e., fat) is advantageous in environment where intermittent access to food Can lead to weight gain and obesity in an environment where food is plentiful

27 Frayling TM. Nat Rev Genet 2007 Sep; 8: : A breakthrough year in diabetes genetics, T2DM genes found : C3,(2000) C1, (2003) C10,(2006)

28 Genetic linkage analysis is a statistical method that is used to associate functionality of genes to their location on chromosomes.

29 DNA submitted toThe Center for Inherited Disease Research 426 families (2-7 members) Sib-pair study design with (834 Affected ), (194 Unaffected ) Analysis: MERLIN ( computer program ) 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)


31 C 7 C 14

32 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, Genome Wide Gene Association Studies (GWAS) Can Identify Complex Disease Genes

33 GENEChromo- some Mode of IDPrevious Evidence Evidence from Human Physiology PPARG 3 CandidateDrug targetInsulin sensitivity KCNJ11 12 CandidateDrug targetInsulin secretion TCF2 17 Candidate/ linkage Monogenic diabetes MODY, Insulin secretion WFS1 4 Candidate/ Linkage Monogenic diabetes Wolfram Syndrome TCF7L2 10 Linkage then region-wide AS noneInsulin secretion HHEX-IDE 10 GWASPancreas development Insulin secretion SLC30A8 8 GWASnoneInsulin secretion CDKAL1 6 GWASnoneInsulin secretion CDKN2A-2B 9 GWASReduced islet mass in mice (Coronary Artery Disease) IGF2BP2 3 GWASBinds IGF2 FTO 16 GWASnoneBMI/obesity Type 2 Diabetes Genes

34 Identified as a major new diabetes gene on C-10 by Grant et al. Nat Genet 2006 March; 38: 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 Aug; 117: ) (Diabetes,2009,UNC) Do Not play a major role in T2DM risks in the Gullah population (Seale,2008)

35 Powerful research tools for identifying genetic variants that contribute to health and disease. To identify common genetic factors that influence health and disease. 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. Potential for increased understanding of basic biological processes affecting human health, and the promise of personalized medicine.

36 Genotyping phase using the Affymetrix 6.0 product is scheduled to commence very soon, and anticipated to take 6-8 weeks. Currently harmonizing the phenotypic datasets from the different studies. (PS/SIGNET) (Jackson Heart,) (Wake Forest) Actual relevance for health outcomes is yet to be seen. (M.Sale)

37 The classic Metabolic Syndrome trait cluster is not operative in a population of African Americans with little European genetic admixture, Different criteria for identifying metabolic risk should be developed as a function of race/ethnicity, perhaps based on ancestral genetic admixture, Susceptibility genes can be unique or exert differential effects on metabolic traits as a function of race/ethnicity Exercise and diet are good for everyone!!!!!!!!!!

38 1. M. Sale /(Molecular Geneticist) PI/ R01 Genetic contributors to Diabetes and Dyspipdemia in African Americans 2. 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


40 Community: Staffing, engagement Plan: Flexible protocol,direct,active recruitment Rewards : Services to the Community

41 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

42 Flexible Protocol Recruit extended family members Compensation Weekend after hours Inform consent read to participants Direct and active recruitment

43 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 Share results/finding with community (quarterly newsletter)


45 You must have patience, Acknowledge Altruism within the culture (I am doing this so my grand kids dont have to suffer) Identify the gatekeeper in the family



48 Questions

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