Lynette Ekunwe

University of MS Medical Center · Jackson Heart Study

Obstructive sleep apnea (OSA) is a common disorder associated with increased risk of cardiovascular disease and mortality. Iron and heme metabolism, implicated in ventilatory control and OSA comorbidities, was associated with OSA phenotypes in recent admixture mapping and gene enrichment analyses. However, its causal contribution was unclear. In th...

Platelets play a key role in thrombosis and hemostasis. Platelet count (PLT) and mean platelet volume (MPV) are highly heritable quantitative traits, with hundreds of genetic signals previously identified, mostly in European ancestry populations. We here utilize whole genome sequencing from NHLBI's Trans-Omics for Precision Medicine Initiative (TOP...

Many common and rare variants associated with hematologic traits have been discovered through imputation on large-scale reference panels. However, the majority of genome-wide association studies (GWASs) have been conducted in Europeans, and determining causal variants has proved challenging. We performed a GWAS of total leukocyte, neutrophil, lymph...

Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and non-coding disease-causing variants, has largely been applied to clinical diagnosis of inherited disorders. Here we leveraged WGS data in up to 62,653 ethnically diverse participants from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and assessed statistic...

Whole genome sequencing (WGS), a powerful tool for detecting novel coding and non-coding disease-causing variants, has largely been applied to clinical diagnosis of inherited disorders. Here we leveraged WGS data in up to 62,653 ethnically diverse participants from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and assessed statistic...

Background: Surveys suggest that most research participants desire access to secondary (incidental) genomic findings. However, few studies clarify whether preferences vary by the nature of the finding. Methods: We surveyed members of the JHS (Jackson Heart Study, n=960), the FHS (Framingham Heart Study; n=955), and African American members of th...

Genetic analysis has become integral to many large cohort studies. However, little is known about longitudinal cohort study participants’ attitudes toward genetics and genetic testing. We analyzed data from a survey of participants in the Jackson Heart Study (n = 960), Framingham Heart Study (n = 955), and Framingham Heart Study–Omni Cohort (n = 16...

To the editor: Microvascular and macrovascular thrombosis is thought to contribute significantly to the pathophysiology of complications in sickle cell disease (SCD).[1][1],[2][2] The mechanism of hypercoagulability in SCD is multifactorial, including activation of coagulation at the surface of

PRIMUS is a pedigree reconstruction algorithm that uses estimates of genome-wide identity by descent to reconstruct pedigrees consistent with observed genetic data. However, when genetic data for individuals within a pedigree are missing, often multiple pedigrees can be reconstructed that fit the data. We report a major expansion of PRIMUS that use...

Introduction Short-term health advantages associated with breastfeeding are both widely reported and readily accepted as scientifically credible, but evidence in support of breastfeeding's associations with long term health is limited. This study in a large African American cohort from Jackson, MS (N=5301) seeks to add to the body of evidence ident...

Little research has focused on the social patterning of diabetes among African Americans. We examined the relationship between socioeconomic status (SES) and the prevalence, awareness, treatment, and control of diabetes among African Americans. Education, income and occupation were examined among 4,303 participants (2,726 women and 1,577 men). Pois...

Principal components analysis of CARe and HapMap3 samples. Only the HapMap3 populations CEU, YRI and CHB were used to compute principal components. (0.11 MB PDF)

Proportion of SNPs achieving genome-wide significance as function of the expected difference in odds ratios between Africans and Europeans. Scores were computed at SNPs neighboring 100,000 simulated causal SNPs (R = 1.5), tagging with different LD in European versus Africans the simulated causal. (0.03 MB PDF)

Results for LDL and HDL quantitative phenotypes. (a) We list results for each score (-log in base 10 of the p-value) for genotyped SNPs that have previously been associated to LDL in CARe samples, the imputed (* denotes imputed SNPs) or genotyped SNPs producing the most significant P-values, and the best score for each of the five scores. (b) Analo...

Supplementary Note. (0.09 MB DOC)

Average local ancestry of 6,209 CARe samples. (0.07 MB PDF)

Proportion of SNPs with imputation accuracy difference in European versus African segments under a specified threshold. The imputation accuracy in European (African) segments was estimated for each SNP as the squared correlation between true masked genotypes and imputed genotypes restricted to samples containing 2(0) European (African) alleles at t...

Average statistic and statistical power of case-control scores in African Americans computed under various disease models. 1000 cases and 1000 controls were simulated at 100,000 SNPs with odds ratio R. For each score we list the average χ2 value and proportion of SNPs for which the score attains genome-wide significance (defined as P<5e-08 for all...

Average value and statistical power of simulated case-control MIX score in African Americans imputed genotypes under various imputation settings (MIX*-denotes no adjustment for differences in imputation error rates). For each setting we list the average χ2 value and proportion of SNPs for which the score attains genome-wide significance (defined as...

Average statistic and statistical power of case-control scores in African Americans computed for different number of cases and R = 1.5. The number of controls is set to 1000. For each score we list the average χ2 value and proportion of SNPs for which the score attains genome-wide significance (defined as P<5e-08 for all scores except ADM, P<1e-05...

While genome-wide association studies (GWAS) have primarily examined populations of European ancestry, more recent studies often involve additional populations, including admixed populations such as African Americans and Latinos. In admixed populations, linkage disequilibrium (LD) exists both at a fine scale in ancestral populations and at a coarse...

Pericardial adipose tissue (PAT), a regional fat depot that surrounds the heart, is associated with an unfavorable cardiometabolic risk factor profile. The associations among PAT, cardiometabolic risk factors, and coronary artery calcification (CAC) and abdominal aortic artery calcification (AAC) in African American populations have not been explor...

Author Summary Many African Americans have white blood cell counts (WBC) that are persistently below the normal range for people of European descent, a condition called “benign ethnic neutropenia.” Because most African Americans have both African and European ancestors, selected genetic variants can be analyzed to assign probable African or Europea...

Polycyclic Aromatic Hydrocarbons (PAHs) are a group of compounds that pose many health threats to human and animal life. They occur in nature as a result of incomplete combustion of organic matter, as well as from many anthropogenic sources including cigarette smoke and automobile exhaust. PAHs have been reported to cause liver damage, red blood ce...

This paper describes the preparation of genetic materials and the recruitment and initial characterization of a nested Family Study within the Jackson Heart Study (JHS) METHODS: Genomic DNA was prepared from all consenting JHS participants. In addition, family members of a subset of JHS participants were recruited to the JHS Family Study to allow h...

Very little is known about the distribution of mutational effects on organismal fitness, despite the fundamental importance of this information for the study of evolution. This lack of information reflects the fact that it is generally difficult to quantify the dynamic effects of mutation and natural selection using only static distributions of all...