Genome-wide Survey of Copy Number Variants Associated with Blood Pressure and Body Mass Index in a Korean Population
Genomics & Informatics
;
: 152-160, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-73134
ABSTRACT
Hypertension is the major factor of most death and high blood pressure (BP) can lead to stroke, myocardial infarction and cardiac failure. Moreover, hypertension is strongly correlated with body mass index (BMI). Although the exact causes of hypertension are still unclear, some of genetic loci were discovered from genome-wide association study (GWAS). Therefore, it is essential to study genetic variation for finding more genetic factor affecting hypertension. The purpose of our study is to conduct a CNV association study for hypertension-related traits, BP and BMI, in Korean individuals. We identified 2,206 CNV regions from 3,274 community-based Korean participants using the Affymetrix Genome-Wide Human SNP Array 6.0 platform and performed a logistic regression analysis of CNVs with two hypertension-related traits, BP and BMI. Moreover, the 4,692 participants in an independent cohort were selected for respective replication analyses. GWAS of CNV identified two loci encompassing previously known hypertension-related genes LPA (lipoprotein) on 6q26, and JAK2 (Janus kinase 2) on 9p24, with suggestive p-values (0.0334 for LPA and 0.0305 for JAK2). These two positive findings, however, were not evaluated in the replication stage. Our result confirmed the conclusion of CNV study from the WTCCC suggesting weak association with common diseases. This is the first study of CNV association study with BP and BMI in Korean population and it provides a state of CNV association study with common human diseases using SNP array.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fosfotransferases
/
Variação Genética
/
Pressão Sanguínea
/
Índice de Massa Corporal
/
Modelos Logísticos
/
Estudos de Coortes
/
Acidente Vascular Cerebral
/
Complexo I de Proteína do Envoltório
/
Estudo de Associação Genômica Ampla
/
Loci Gênicos
Tipo de estudo:
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Humanos
Idioma:
Inglês
Revista:
Genomics & Informatics
Ano de publicação:
2011
Tipo de documento:
Artigo
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