Genetic landscape of Gullah African Americans.

OBJECTIVES: Gullah African Americans are descendants of formerly enslaved Africans living in the Sea Islands along the coast of the southeastern U.S., from North Carolina to Florida. Their relatively high numbers and geographic isolation were conducive to the development and preservation of a unique culture that retains deep African features. Although historical evidence supports a West-Central African ancestry for the Gullah, linguistic and cultural evidence of a connection to Sierra Leone has led to the suggestion of this country/region as their ancestral home. This study sought to elucidate the genetic structure and ancestry of the Gullah. MATERIALS AND METHODS: We leveraged whole-genome genotype data from Gullah, African Americans from Jackson, Mississippi, African populations from Sierra Leone, and population reference panels from Africa and Europe to infer population structure, ancestry proportions, and global estimates of admixture. RESULTS: Relative to non-Gullah African Americans from the Southeast US, the Gullah exhibited higher mean African ancestry, lower European admixture, a similarly small Native American contribution, and increased male-biased European admixture. A slightly tighter bottleneck in the Gullah 13 generations ago suggests a largely shared demographic history with non-Gullah African Americans. Despite a slightly higher relatedness to populations from Sierra Leone, our data demonstrate that the Gullah are genetically related to many West African populations. DISCUSSION: This study confirms that subtle differences in African American population structure exist at finer regional levels. Such observations can help to inform medical genetics research in African Americans, and guide the interpretation of genetic data used by African Americans seeking to explore ancestral identities.

Genome-wide association of body fat distribution in African ancestry populations suggests new loci.

Central obesity, measured by waist circumference (WC) or waist-hip ratio (WHR), is a marker of body fat distribution. Although obesity disproportionately affects minority populations, few studies have conducted genome-wide association study (GWAS) of fat distribution among those of predominantly African ancestry (AA). We performed GWAS of WC and WHR, adjusted and unadjusted for BMI, in up to 33,591 and 27,350 AA individuals, respectively. We identified loci associated with fat distribution in AA individuals using meta-analyses of GWA results for WC and WHR (stage 1). Overall, 25 SNPs with single genomic control (GC)-corrected p-values<5.0 × 10(-6) were followed-up (stage 2) in AA with WC and with WHR. Additionally, we interrogated genomic regions of previously identified European ancestry (EA) WHR loci among AA. In joint analysis of association results including both Stage 1 and 2 cohorts, 2 SNPs demonstrated association, rs2075064 at LHX2, p = 2.24×10(-8) for WC-adjusted-for-BMI, and rs6931262 at RREB1, p = 2.48×10(-8) for WHR-adjusted-for-BMI. However, neither signal was genome-wide significant after double GC-correction (LHX2: p = 6.5 × 10(-8); RREB1: p = 5.7 × 10(-8)). Six of fourteen previously reported loci for waist in EA populations were significant (p<0.05 divided by the number of independent SNPs within the region) in AA studied here (TBX15-WARS2, GRB14, ADAMTS9, LY86, RSPO3, ITPR2-SSPN). Further, we observed associations with metabolic traits: rs13389219 at GRB14 associated with HDL-cholesterol, triglycerides, and fasting insulin, and rs13060013 at ADAMTS9 with HDL-cholesterol and fasting insulin. Finally, we observed nominal evidence for sexual dimorphism, with stronger results in AA women at the GRB14 locus (p for interaction = 0.02). In conclusion, we identified two suggestive loci associated with fat distribution in AA populations in addition to confirming 6 loci previously identified in populations of EA. These findings reinforce the concept that there are fat distribution loci that are independent of generalized adiposity.

A Community-Engaged Assessment of Barriers and Facilitators to Rapid Stroke Treatment.

Treatment for acute ischemic stroke must be initiated within hours of stroke symptom onset, and the sooner it is administered, the better. In South Carolina, 76% of the population can access expert stroke care, and rural hospitals may provide specialized treatment using telemedicine, but many stroke sufferers seek care too late to achieve full benefit. Using a community-engaged approach in a southern rural community, we explored barriers and facilitators to early stroke care and implications for improvement. The Community-Engaged Assessment to facilitate Stroke Elimination (CEASE) study was guided by a community advisory group to ensure community centeredness and local relevance. In a qualitative descriptive study, eight focus groups were conducted including 52 individuals: recent stroke survivors, family members, emergency medical personnel, hospital emergency department staff, primary care providers, and community leaders. From analysis of focus group transcripts came six themes: lack of trust in healthcare system and providers; weak relationships fueled by poor communication; low health literacy; financial limitations related to health care; community-based education; and faith as a message of hope. A hierarchy model for improving early community-based stroke care was developed through consensus dialogue by community representatives and the research team. This model can be used to inform a community-partnered, stakeholder-informed intervention to improve stroke care in a rural southern community with the goal of improving stroke education, care, and outcome. © 2016 Wiley Periodicals, Inc.

Multi-ethnic minority nurses' knowledge and practice of genetics and genomics.

PURPOSE: Exploratory studies establishing how well nurses have integrated genomics into practice have demonstrated there remains opportunity for education. However, little is known about educational gaps in multi-ethnic minority nurse populations. The purpose of this study was to determine minority nurses' beliefs, practices, and competency in integrating genetics-genomics information into practice using an online survey tool. DESIGN: A cross-sectional survey with registered nurses (RNs) from the participating National Coalition of Ethnic Minority Organizations (NCEMNA). Two phases were used: Phase one had a sample of 27 nurses who determined the feasibility of an online approach to survey completion and need for tool revision. Phase two was a main survey with 389 participants who completed the revised survey. The survey ascertained the genomic knowledge, beliefs, and practice of a sample of multi-ethnic minority nurses who were members of associations comprising the NCEMNA. METHODS: The survey was administered online. Descriptive survey responses were analyzed using frequencies and percentages. Categorical responses in which comparisons were analyzed used chi square tests. FINDINGS: About 40% of the respondents held a master's degree (39%) and 42% worked in direct patient care. The majority of respondents (79%) reported that education in genomics was important. Ninety-five percent agreed or strongly agreed that family health history could identify at-risk families, 85% reported knowing how to complete a second- and third-generation family history, and 63% felt family history was important to nursing. Conversely, 50% of the respondents felt that their understanding of the genetics of common disease was fair or poor, supported by 54% incorrectly reporting they thought heart disease and diabetes are caused by a single gene variant. Only 30% reported taking a genetics course since licensure, and 94% reported interest in learning more about genomics. Eighty-four percent believed that their ethnic minority nurses' organizations should have a visible role in genetics and genomics in their communities. CONCLUSIONS: Most respondents felt genomics is important to integrate into practice but demonstrated knowledge deficits. There was strong interest in the need for continuing education and the role of the ethnic minority organizations in facilitating the continuing education efforts. This study provides evidence of the need for targeted genomic education to prepare ethnic minority nurses to better translate genetics and genomics into practice. CLINICAL RELEVANCE: Genomics is critical to the practice of all nurses, most especially family health history assessment and the genomics of common complex diseases. There is a great opportunity and interest to address the genetic-genomic knowledge deficits in the nursing workforce as a strategy to impact patient outcomes.

Cardiovascular risk in Gullah African Americans with high familial risk of type 2 diabetes mellitus: project SuGAR.

OBJECTIVES: To determine the prevalence of cardiovascular disease, levels of cardiovascular risk factors, and extent of preventive care in Gullah African Americans with a high familial risk of type 2 diabetes mellitus. METHODS: Between 1995 and 2003, 1321 Gullah African Americans with a high prevalence of diabetes mellitus from the South Carolina Sea Islands consented to and enrolled in the Sea Islands Genetic African American Registry (Project SuGAR). A cross-sectional analysis of cardiometabolic risk, preventive care, and self-reported cardiovascular disease was conducted. RESULTS: Cardiometabolic risk factor levels were high and vascular disease was prevalent. Among the subjects with diabetes mellitus, the mean disease duration was 10.5 years; approximately one-third reported reduced vision or blindness; and >80% reported numbness, pain, or burning in their feet. Preventive diabetes care was limited, with <60%, <25%, and <40% seeing an ophthalmologist, podiatrist, and dentist, respectively, within the past year. Only 54.4% of women and 39.3% of men reported daily glucose monitoring. CONCLUSIONS: As the largest existing study of Gullah individuals, our study offers insight into not only the level of cardiovascular risk in this population but also the pathophysiological mechanisms central to ancestral differences in cardiometabolic risk in the broader African American population.

Non-Biological (Fictive Kin and Othermothers): Embracing the Need for a Culturally Appropriate Pedigree Nomenclature in African-American Families.

Although the Family Health History (FHH) is the most cost-effective tool in the staratification of disense risk, it is not designed to collect information from non-biological family members (NBFM). Significant NBFM, defined as "fictive kin and othermothers," tend to play a major role in the transmission of culture, health promotion, and decision-making; yet, their influence cannot be captured using the standard FHH. Participants attending the National Black Nurses Association (NBNA) 2012 genetic workshop were divided into groups to role-play FHH. All participants (N = 50) indicated difficulties with the standard FHH, ranking collection of sensitive data as the number 1 challenge. Consequently, a new symbol was developed with support from NBNA genetics workshop participants. Having such a symbol afforts an apportunity for inclusion of all NBFM to help guide risk-specific recommendations for disense management, prevention, and health promotion of common chronic diseases. This report will describe the process, presentation, and adoption of the symbol.

Views of Black nurses toward genetic research and testing.

PURPOSE: To describe views and beliefs that Black nurses hold regarding several conceptual areas of genetic research and testing. DESIGN: Data were generated using a descriptive, cross-sectional design. The sample consisted of 384 Black nurses attending the 2009 annual conference of the National Black Nurses Association in Las Vegas, Nevada. METHODS: The chi-squared test was used to evaluate group differences by education level, functional area, age, and gender. FINDINGS: One half of the Black nurses surveyed believed the potential for the discriminative misuse of genetic information against minority populations exists. However, 84% of these nurses believed the possibility of information misuse should not be used as a barrier to participation in genetic research and testing by the Black populace. CONCLUSIONS: Black nurses expressed concerns about the potential for discriminatory use of genetic information gleaned from research and testing. Yet, Black nurses recognize the importance of racial-ethnic minority participation in genetic research and testing. CLINICAL RELEVANCE: Participation in genetic research and testing by diverse populations will provide opportunities to improve the healthcare delivery system and aid the eradication of health disparities. More research is needed to clarify factors that contribute to the bifurcation of importance for participation, reluctance to participate, and what interventions might reduce reluctance.

Measuring self-concept among African-Americans: validating the factor structure of the self-perception profile for adolescents.

The purpose of this investigation was to examine the reliability and factor structure of the Harter Self-Perception Profile for Adolescents (SPPA) with African-Americans. While the SPPA has demonstrated strong psychometric properties with European-Americans, limited information exists with African-Americans. Three hundred and ten (N = 310) female adolescents, from 14 through 18 years of age, completed the SPPA. Estimations of internal consistency reliability with Cronbach's alpha (alpha), item suitability with Pearson (gamma) correlations, and evaluation of factor structure fit utilizing principle axis extraction with oblimin (oblique) rotation were conducted. When compared with Harter's normative data, psychometric properties of the SPPA varied significantly with the current sample. Findings suggested cautious interpretation of data generated with demographically similar cohorts. Further study is warranted to ascertain the factor structure that is most relevant for use with African-American adolescents.

A systematic review of strategies that increase the recruitment and retention of African American adults in genetic and genomic studies.

BACKGROUND: The National Institutes of Health mandates the inclusion of ancestrally diverse populations into federally funded biomedical and clinical trials research. However, low participation of ethnic minorities in genetics-genomics research continues to be one of the most difficult aspects of conducting human subjects research. OBJECTIVE: This systematic review was conducted to document effective recruitment strategies that increase participation in genetics-genomics studies. METHODS: Extensive literature search strategies were employed to locate and appraise relevant literature reporting original data in which strategies to recruit African American adults into genetics-genomics research studies had been evaluated. RESULTS: Six studies published up to July, 2011 were included. Informal recruitment strategies for initial contact appeared to have a more positive impact on increasing recruitment and participation numbers than formal mailings of letters and postcards. Another key stratagem identified was participant-recruiter like-ancestry. Other methods such as monetary incentives and support of the research project by community leaders were not as effective. CONCLUSIONS: Some strategies bolstered recruitment rates while others did not. More research is needed to determine the efficacy of recruitment strategies with African Americans.

The genetic architecture of lipoprotein subclasses in Gullah-speaking African American families enriched for type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR).

We sought to partition the genetic and environmental influences on lipoprotein subclasses and identify genomic regions that may harbor genetic variants that influence serum lipoprotein levels in a sample of Gullah-speaking African-Americans. We genotyped 5,974 SNPs in 979 subjects from 418 pedigrees and used the variance component approach to compute heritability estimates, genetic and environmental correlations, and linkage analyses for selected lipoprotein subclasses. The highest heritability estimate was observed for large VLDL particle concentration (0.56 +/- 0.14). Mean LDL particle size and small LDL particle concentration (-0.94) had the strongest genetic correlation estimate. The highest logarithm of odds (LOD) score detected (3.0) was on chromosome 6p24 for small LDL particle concentration. The strongest signal, obtained with the reduced sample of diabetic individuals only, was observed on chromosome 20p13 for small LDL particle concentration. The highest bivariate linkage signal (LOD 2.4) was observed on chromosome 6p24 for mean LDL particle size and small LDL particle concentration. Our results suggest a significant genetic contribution to multiple lipoprotein subclasses studied in this sample and that novel loci on chromosomes 6, 10, 16, and 20 may harbor genes contributing to small, atherogenic LDL particle concentration and large, triglyceride-rich VLDL particle concentration.

Health of Gullah families in South Carolina with type 2 diabetes: diabetes self-management analysis from project SuGar.

PURPOSE: The purpose of this study was to describe diabetes self-management practices and service utilization among Gullah families in South Carolina. METHODS: Data were obtained from 1276 persons with type 2 diabetes through interviews using the Family Health History Questionnaire. This was a primary analysis of a project conducted in conjunction with a parent study (Project SuGar) which focused on the molecular aspects of diabetes. Descriptive statistics were used for data analysis. RESULTS: Diabetes self-management behaviors were not consistent with recommendations from the American Diabetes Association. Over half (55.6%) reported exercising, but only 27.7% reported self-glucose monitoring. Service utilization was poor, less than half, (41.1%) reported referral to a diabetic class/diet, 32.8% reported making yearly visits to the ophthalmologist, 22.3% reported visiting the dentist, and only 12.8% reported visiting the podiatrist. CONCLUSIONS: Although some self-management behaviors were identified, Gullah family members remain at risk for preventable diabetes complications. Education must reflect behaviors and beliefs valued by Gullah individuals. Culturally appropriate educational programs may increase use of health care services aimed at decreasing preventable complications of type 2 diabetes in the Gullah population.

Knowledge, beliefs and practices of African-American nurses regarding genetics/genomics.

In an effort to increase the awareness of genetics among African-American nurses, a pilot study was conducted with members of the National Black Nurses Association (NBNA) in order to assess the interest, knowledge, and practice of African-American nurses regarding genetics and to identify program needs. Self-administered surveys were distributed to a convenience sample of 77 African-American nurses (N=77) attending the 2006 Annual Conference of the National Black Nurses Association (NBNA) in Hollywood, Florida. Measures of central tendency and frequencies were used to analyze the data. Over half the sample (56%) self-reported their knowledge of genetics as being only fair or poor; however, 56% were interested in genetic awareness training, and 93.5% were willing to participate in planned genomic education. An unexpected finding was that 77.9% believed that genetic tests could be used to discriminate against minorities. Although this sample reported limited genetics/genomic knowledge, their interest in genetics training and the incorporation of genetics into daily practice was high. These data can be used to support the development and implementation of culturally appropriate genetic awareness training. Challenges for the organization include identification of the type of venue to use for genetic/genomic awareness training and identification of resources and partnerships to support NBNA members in gaining genetic awareness training.

Evaluating a Media Strategy to Provide Health Messages to Medically Underserved Populations.

For nearly every category of chronic disease, blacks with African American ancestry (AAs) bear a disproportionate disease burden in comparison to their non-Hispanic white (NHW) counterparts. The purpose of this study was to evaluate perceptions of a radio-based health communication strategy, geared towards AA adults and the medically underserved. The radio broadcast, titled "Closing the Gap in Healthcare, Inc. (CGHI)," is delivered by a well-known AA male physician in South Carolina. The mission of CGHI is to decrease health disparities in a four-county area of the South Carolina coastal region, defined as the "Lowcountry," by providing evidence-based health information to a broad community audience via radio broadcast messaging. To evaluate the impact of the CGHI, investigators conducted 12 focus groups (FGs) with community members from the broadcast coverage area to evaluate responses to FG questions based on 11 attributes of effective health communication. Potential FG participants were identified/recruited via a South Carolina-based marketing firm. The FGs conducted in the Sea Islands were culturally and racially homogenous. The investigators developed a FG interview guide. Before each FG started, the informed consent process was administered to each participant. Each two-hour FG was digitally recorded.

The quality of diabetes care to Gullah families of South Carolina.

Empirical evidence from the Diabetes Control and Complication Trial (DCCT) suggests that maintaining normal glycemic control can prevent both micro vascular and macro vascular diseases in persons diagnosed with type 2 diabetes mellitus (T2DM) (DCCT, 1993). Adults with T2DM are also more likely to have hypertension (73% [HTN]) and patients with both are 2 to 4 times more likely to develop diabetic complications compared with the general population (CDC, 2005). The purpose of this descriptive study was to 1) describe the quality of diabetes care received by Gullah families who participated in the Project SuGar research study; and 2) compare the Gullah's quality of care to the national sample in the Center for Disease Control (CDC) Diabetes Report Card using the two indicators of blood pressure and HbA1c. This was a secondary analysis from a parent study that compared selected data to the CDC Diabetes Report Card, the National Health and Nutrition Examination Survey (NHANES III), and the Behavioral Risk Factor Surveillance System (BRFSS). Socio-demographic and clinical data were obtained from 1,057 research participants (N = 1,057). Overall, when compared to the national sample in the CDC Report Card, the HbA1c greater than 9.5% mg/dL was higher among the Gullahs, (30.2% vs. 18%), and blood pressure greater 140/90 mmHg was lower (29% vs. 34%) among the participants. Almost half of the Gullahs (45.9%) self-reported neurovascular complications such as foot pain, claudication, and renal complications of kidney infection and dialysis (7.3%). The Gullah study participants are at risk for diabetes-related complications. Results suggest a quality gap in diabetes care and it suggests health disparities in outcome measures as well. Optimal care that is consistent with clinical guidelines could have a significant impact on decreasing complications and health disparities.

African Americans' Culturally Specific Approaches to the Management of Diabetes.

Spirituality is an important multidimensional cultural resource and coping strategy used by many African Americans for managing chronic diseases such as diabetes. Yet, few studies examine meaning and interpretation of colloquial terms frequently used for coping within the context of a community culture. We designed an interpretive qualitative study to gain a deeper understanding of a colloquial phrase, "I ain't claiming it," used among Project SuGar research participants when discussing diabetes. Thematic analysis revealed two major themes, Acknowledgment and Denial, as coping mechanisms through an active or passive relationship with God. Sub-theme of acknowledgment was presented as front seat driver and sub-theme for denial of the disease presented as back seat driver. These meanings encompass a range of culturally specific coping strategies for self-management that health providers should consider and implement as part of providing patient-centered care to enhance better outcome strategies.

Project Sugar: a recruitment model for successful African-American participation in health research.

Attempts to increase the number of African-Americans participating in clinical trials, regardless of age, have been hampered by a lack of published data regarding successful recruitment and retention strategies. Successful strategies can be used as a guide for future researchers in the design of studies to recruit African-Americans, regardless of age, into clinical as well as qualitative studies to promote health among this vulnerable population. The goal of the primary study was to recruit 400 families with 2 or more family members affected with diabetes, totaling 800 participants. Project Sugar utilized the coordinated research principals known as CPR (Community, Plan, Reward) to recruit 615 African-American families totalling 1,230 people known as the Sea Island people (Gullahs) in the first five years of the study. The intention of the study was to identify markers for diabetes among these Sea Island natives who tended to be genetically homogenous. In so doing, specific strategies were identified as serendipitous findings for this study. Nonetheless, these serendipitous findings were thought to be so integral to success in the recruitment of African-Americans, mainly because of their success among this fairly close-knit, historically isolated, and significantly genetically homogenous Sea Islanders (Gullah). In recognizing the success of this model, an alternate aim was examined to devise rigorous scientific strategies to promote methods for recruitment of African-Americans into clinical trials aimed at reducing health disparities among this vulnerable population. This projects success can be attributed to the involvement of a local citizen advisory committee and rewards in the form of services, benefits, and incentives to the community. Findings from this alternative aim, which was scientifically built on the CPR model, suggest that when services are provided to the community, coupled with the use of local community advisory committees, the possibilities of recruiting participants into a clinical trial are significantly enhanced and augmented.

Beyond the medical model: interdisciplinary programs of community-engaged health research.

This report describes four diverse programs of community-engaged research, all of which demonstrated positive health outcomes. Three of the programs were focused on communities of people with diabetes, and one program targeted at-risk young families raising infants and young children. Brief descriptions of each research study and outcomes are presented as well as a discussion of the processes and lessons that were learned from each model of successful interdisciplinary community-university health research partnerships.

Enhancing recruitment of African-American families into genetic research: lessons learned from Project SuGar.

Despite some recruitment success in biomedical research among minorities, participation by African-American families into research, specifically genetic research, is lower than Caucasian families (Bowen and Penchaszadeh Community Genet 11:189-190, 2008). Such low participation rates by African-Americans prevent the exploration of specific ethnic differences in patterns of diseases and diminish the identification of specific disease risks among ethnic groups (Bowen and Penchaszadeh Community Genet 11:189-190, 2008). Although African-Americans are heterogeneous, few studies exist to describe effective recruitment strategies across diverse African-American populations, and even fewer studies share effective strategies for the enrollment of African-American families into genetic research. A process evaluation of recruitment strategies used by Project SuGar (a community-based genetic research study focusing on families affected by type 2 diabetes) to enroll African-American families into genetic research was conducted. Our goal was to enroll 400 affected African-American families, and our results yielded 672 families, (n=672). Our success can be attributed to the formation of a Citizen Advisory Committee, recruitment style, flexible protocol, and formal agreement with community health centers. We found that African-American families will participate in research and that providing tangible benefits to the community and utilizing a sense of patience can enhance positive recruitment results. Data from this study may be used to recruit geographically isolated families into genetic research.

Genome-wide linkage scan in Gullah-speaking African American families with type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR).

OBJECTIVE: The Gullah-speaking African American population from the Sea Islands of South Carolina is characterized by a low degree of European admixture and high rates of type 2 diabetes and diabetic complications. Affected relative pairs with type 2 diabetes were recruited through the Sea Islands Genetic African American Registry (Project SuGAR). RESEARCH DESIGN AND METHODS: We conducted a genome-wide linkage scan, genotyping 5,974 single nucleotide polymorphisms in 471 affected subjects and 50 unaffected relatives from 197 pedigrees. Data were analyzed using a multipoint engine for rapid likelihood inference and ordered subsets analyses (OSAs) for age at type 2 diabetes diagnosis, waist circumference, waist-to-hip ratio, and BMI. We searched for heterogeneity and interactions using a conditional logistic regression likelihood approach. RESULTS: Linkage peaks on chromosome 14 at 123-124 cM were detected for type 2 diabetes (logarithm of odds [LOD] 2.10) and for the subset with later age at type 2 diabetes diagnosis (maximum LOD 4.05). Two linkage peaks on chromosome 7 were detected at 44-45 cM for type 2 diabetes (LOD 1.18) and at 78 cM for type 2 diabetes (LOD 1.64) and the subset with earlier age at type 2 diabetes diagnosis (maximum LOD 3.93). The chromosome 14 locus and a peak on 7p at 29.5 cM were identified as important in the multilocus model. Other regions that provided modest evidence for linkage included chromosome 1 at 167.5 cM (LOD 1.51) and chromosome 3 at 121.0 cM (LOD 1.61). CONCLUSIONS: This study revealed a novel type 2 diabetes locus in an African American population on 14q that appears to reduce age of disease onset and confirmed two loci on chromosome 7.