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.

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.

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.

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.

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.

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.

Genomics, nutrition, obesity, and diabetes.

PURPOSE: To present evidence of genetic and environmental interactions as they relate to nutrition, diabetes, and obesity. METHODS: A review of seminal literature related to genetics, obesity, and diabetes. FINDINGS: Multifactorial interactions are important in the development of nutrition-related disorders, but the challenge remains to explain how these interactions are expressed. Treating subpopulations of people might be important and useful to some extent at present, but in the future treating people of given genetic predispositions and other personal and environmental factors will have greater effects on quality-of-life indicators and life expectancies. CONCLUSIONS: Individualization coupled with multifactorial interactions will lead to new and more effective preventive and treatment modalities of nutrition-related disorders. With obesity and diabetes, genomics will bridge the traditional use of diet, exercise, and weight reduction with other environmental factors, ultimately leading to healthier lives.