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Clin Genet ; 96(1): 17-27, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30820929

RESUMO

Remarkable findings from genome-wide association studies (GWAS) on blood pressure (BP) traits have made new insights for developing precision medicine toward more effective screening measures. However, generality of GWAS findings in diverse populations is hampered by some technical limitations. There is no comprehensive study to evaluate source(s) of the non-generality of GWAS results on BP traits, so to fill the gap, this systematic review study was carried out. Using MeSH terms, 1545 records were detected through searching in five databases and 49 relevant full-text articles were included in our review. Overall, 749 unique variants were reported, of those, majority of variants have been detected in Europeans and were associated to systolic and diastolic BP traits. Frequency of genetic variants with same position was low in European and non-European populations (n = 38). However, more than 200 (>25%) single nucleotide polymorphisms were found on same loci or linkage disequilibrium blocks (r2 ≥ 80%). Investigating for locus position and linkage disequilibrium of infrequent unique variants showed modest to high reproducibility of findings in Europeans that in some extent was generalizable in other populations. Beyond theoretical limitations, our study addressed other possible sources of non-generality of GWAS findings for BP traits in the same and different origins.


Assuntos
Pressão Sanguínea/genética , Estudo de Associação Genômica Ampla , Grupos Populacionais/genética , Medicina de Precisão , Característica Quantitativa Herdável , Variações do Número de Cópias de DNA , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla/métodos , Genômica/métodos , Humanos , Hipertensão/diagnóstico , Hipertensão/genética , Hipertensão/fisiopatologia , Hipertensão/terapia , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único , Medicina de Precisão/métodos , Viés de Publicação , Locos de Características Quantitativas , Reprodutibilidade dos Testes
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