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Whole Genome Sequence Analysis Of Platelet Traits In The Nhlbi Trans-Omics For Precision Medicine Initiative, Amarise Little, Yao Hu, Quan Sun, Deepti Jain, Jai G. Broome, Ming-Huei Chen, Florian Thibord, Caitlin Mchugh, John Blangero, Joanne E. Curran

School of Medicine Publications and Presentations

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 (TOPMed) in a large multi-ethnic sample to further explore common and rare variation contributing to PLT (n = 61 200) and MPV (n = 23 485). We identified and replicated secondary signals at MPL (rs532784633) and PECAM1 (rs73345162), both more common in African ancestry populations. We also observed rare variation in Mendelian platelet …

Frontotemporal Dementias In Latin America: History, Epidemiology, Genetics, And Clinical Research, Jorge J. Llibre-Guerra, Maria Isabel Behrens, Mirna Lie Hosogi, Lucia Montero, Teresa Torralva, Nilton Custodio, Erika Mariana Longoria-Ibarrola, Margarita Giraldo-Chica, David Aguillón, Gladys E. Maestre

School of Medicine Publications and Presentations

Introduction: The historical development, frequency, and impact of frontotemporal dementia (FTD) are less clear in Latin America than in high-income countries. Although there is a growing number of dementia studies in Latin America, little is known collectively about FTD prevalence studies by country, clinical heterogeneity, risk factors, and genetics in Latin American countries.

Methods: A systematic review was completed, aimed at identifying the frequency, clinical heterogeneity, and genetics studies of FTD in Latin American populations. The search strategies used a combination of standardized terms for FTD and related disorders. In addition, at least one author per Latin American country summarized …

Genomic Variations In Patients With Myelodysplastic Syndrome And Karyotypes Without Numerical Or Structural Changes, Cristiano Luiz Ribeiro, Irene P. Pinto, Samara S. S. Pereira, Lysa B. Minasi, Fernanda De S. M. Kluthcouski, Adriano De M. Arantes, Aparecido D. Cruz, Marcio Almeida, Tom E. Howard

School of Medicine Publications and Presentations

Myelodysplastic syndrome (MDS) is an onco-hematologic disease with distinct levels of peripheral blood cytopenias, dysplasias in cell differentiation and various forms of chromosomal and cytogenomic alterations. In this study, the Chromosomal Microarray Analysis (CMA) was performed in patients with primary MDS without numerical and/or structural chromosomal alterations in karyotypes. A total of 17 patients was evaluated by GTG banding and eight patients showed no numerical and/or structural alterations. Then, the CMA was carried out and identified gains and losses CNVs and long continuous stretches of homozygosity (LCSHs). They were mapped on chromosomes 1, 2, 3, 4, 5, 6, 7, 9, …

Heritability Of Ocular Traits In Hispanics, Aaron T. Gomez, Gladys E. Maestre, Jesus D. Melgarejo, Vincent P. Diego, Nicholas B. Blackburn, Juan B. Yepez, Michele Petitto, Felipe A. Murati, Rosa V. Pirela, Carlos A. Chavez, Winston Lee, Lama A. Al-Aswad, Rando Allikmets, C. Gustavo De Moraes, Matthew P. Johnson, Joseph D. Terwilliger, Joseph H. Lee, John Blangero

MEDI 9331 Scholarly Activities Clinical Years

Purpose: The burden of glaucoma disease among Hispanics is significantly higher than in their white counterparts. It remains unclear to what extent these differences are determined by genetic factors in Hispanics. We therefore examined a highly inbred family population-based cohort in Venezuela to estimate the proportion of genetic contribution of ocular traits relevant to glaucoma disease.

Methods: A subset of 67 participants ≥40y from the Maracaibo Aging Study (MAS) with family pedigree were randomly included. The papillary retinal nerve fiber layer (RNFL) and macular thickness were measured with Spectralis Domain-OCT. Heritability analyses (h², expressed as %) …