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1.
Genes (Basel) ; 11(12)2020 12 08.
Artigo em Inglês | MEDLINE | ID: mdl-33302594

RESUMO

Prostate cancer disproportionately affects men of African ancestry at nearly twice the rate of men of European ancestry despite the advancement of treatment strategies and prevention. In this review, we discuss the underlying causes of these disparities including genetics, environmental/behavioral, and social determinants of health while highlighting the implications and challenges that contribute to the stark underrepresentation of men of African ancestry in clinical trials and genetic research studies. Reducing prostate cancer disparities through the development of personalized medicine approaches based on genetics will require a holistic understanding of the complex interplay of non-genetic factors that disproportionately exacerbate the observed disparity between men of African and European ancestries.


Assuntos
Negro ou Afro-Americano , Disparidades em Assistência à Saúde , Medicina de Precisão , Neoplasias da Próstata/terapia , Humanos , Masculino , Neoplasias da Próstata/etnologia
2.
Mol Vis ; 24: 29-42, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29383007

RESUMO

Purpose: To determine genetic linkage between myopia and Han Chinese patients with a family history of the disease. Methods: One hundred seventy-six Han Chinese patients from 34 extended families were given eye examinations, and mean spherical equivalent (MSE) in diopters (D) was calculated by adding the spherical component of the refraction to one-half the cylindrical component and taking the average of both eyes. The MSE was converted to a binary phenotype, where all patients with an MSE of -1.00 D or less were coded as affected. Unaffected individuals had an MSE greater than 0.00 D (ages 21 years and up), +1.50 (ages 11-20), or +2.00 D (ages 6-10 years). Individuals between the given upper threshold and -1.00 were coded as unknown. Patients were genotyped on an exome chip. Three types of linkage analyses were performed: single-variant two-point, multipoint, and collapsed haplotype pattern (CHP) variant two-point. Results: The CHP variant two-point results identified a significant peak (heterogeneity logarithm of the odds [HLOD] = 3.73) at 10q26.13 in TACC2. The single-variant two-point and multipoint analyses showed highly suggestive linkage to the same region. The single-variant two-point results identified 25 suggestive variants at HTRA1, also at 10q26.13. Conclusions: We report a significant genetic linkage between myopia and Han Chinese patients at 10q26.13. 10q26.13 contains several good candidate genes, such as TACC2 and the known age-related macular degeneration gene HTRA1. Targeted sequencing of the region is planned to identify the causal variant(s).


Assuntos
Cromossomos Humanos Par 10/química , Ligação Genética , Loci Gênicos , Predisposição Genética para Doença , Miopia/genética , Adulto , Idoso , Povo Asiático , Proteínas de Transporte/genética , Criança , Família , Feminino , Haplótipos , Serina Peptidase 1 de Requerimento de Alta Temperatura A/genética , Humanos , Masculino , Miopia/diagnóstico , Miopia/etnologia , Miopia/patologia , Estudos Retrospectivos , Proteínas Supressoras de Tumor/genética
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