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Genome-wide Survey of Copy Number Variants Associated with Blood Pressure and Body Mass Index in a Korean Population
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  • Genome-wide Survey of Copy Number Variants Associated with Blood Pressure and Body Mass Index in a Korean Population
  • Genome-wide Survey of Copy Number Variants Associated with Blood Pressure and Body Mass Index in a Korean Population
저자명
Moon. Sang-Hoon,Kim. Young-Jin,Kim. Yun-Kyoung,Kim. Dong-Joon,Lee. Ji-Young,Go. Min-Jin,Shin. Young-Ah,Hong. Chang-Bum,Kim. Bong
간행물명
Genomics & informatics
권/호정보
2011년|9권 4호|pp.152-160 (9 pages)
발행정보
한국유전체학회
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정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
서지반출

기타언어초록

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.