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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 1 - 10 (10page)
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Genome-wide association studies have identified various genetic variants associated with complex disorders. However, these studies have commonly been conducted in a cross-sectional manner. Therefore, we performed a longitudinal exome-wide association study (EWAS) in a Japanese cohort. We aimed to identify genetic variants that confer susceptibility to hypertension using ~ 244 000 single-nucleotide variants (SNVs) and physiological data from 6026 Japanese individuals who underwent annual health check-ups for several years. After quality control, the association of hypertension with SNVs was tested using a generalized estimating equation model. Finally, our longitudinal EWAS detected seven hypertension-related SNVs that passed strict criteria. Among these variants, six SNVs were densely located at 12q24.1, and an East Asian-specific motif (haplotype) ‘CAAAA’ comprising five derived alleles was identified. Statistical analyses showed that the prevalence of hypertension in individuals with the East Asian-specific haplotype was significantly lower than that in individuals with the common haplotype ‘TGGGT’. Furthermore, individuals with the East Asian haplotype may be less susceptible to the adverse effects of smoking on hypertension. The longitudinal EWAS for the recessive model showed that a novel SNV, rs11917356 of COL6A5, was significantly associated with systolic blood pressure, and the derived allele at the SNV may have spread throughout East Asia in recent evolutionary time.
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참고문헌 (27)
참고문헌 신청
[학술지(정기간행물)
Barrett JC / 2005 / Haploview : analysis and visualization of LD and haplotype maps / Bioinformatics 21 : 263 ~ 265
Cho YS / 2009 / A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits / Nat Genet 41 : 527 ~ 534
Crabb DW / 1989 / Genotypes for aldehyde dehydrogenase deficiency and alcohol sensitivity. The inactive ALDH22allele is dominant / J Clin Invest 83 : 314 ~ 316
Grove ML / 2013 / Best Practices and Joint Calling of the HumanExome BeadChip: The CHARGE Consortium / PLoS ONE 8 : e68095 ~
Barrett JC / 2005 / Haploview : analysis and visualization of LD and haplotype maps / Bioinformatics 21 : 263 ~ 265
Cho YS / 2009 / A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits / Nat Genet 41 : 527 ~ 534
Crabb DW / 1989 / Genotypes for aldehyde dehydrogenase deficiency and alcohol sensitivity. The inactive ALDH22allele is dominant / J Clin Invest 83 : 314 ~ 316
Grove ML / 2013 / Best Practices and Joint Calling of the HumanExome BeadChip: The CHARGE Consortium / PLoS ONE 8 : e68095 ~
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