• 제목/요약/키워드: continuous trait locus analysis

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Genome-Wide Association Analyses on Blood Pressure Using Three Different Phenotype Definitions

  • Park, Ji-Wan;Uhmm, Saan-Yong;Shin, Chol;Cho, Nam-H.;Cho, Yoon-Shin;Lee, Jong-Young
    • Genomics & Informatics
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    • 제8권3호
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    • pp.108-115
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    • 2010
  • Hypertension is the most prevalent disease worldwide and is itself a risk factor for cerebral, cardiac, and renal diseases. The inconsistency of candidate genes suggested by previous genomewide association studies (GWASs) may be due to not only differences in study design and genetic or environmental background but also the difference in the power of analysis between continuous traits and discrete traits. We analyzed 352,228 single nucleotide polymorphisms (SNPs) in 8842 unrelated Koreans obtained from Ansan and Ansung cohorts. We performed a series of GWA analyses using three different phenotype models; young hypertensive cases (278 subjects) versus elderly normotensive controls (680 subjects); the upper 25% (2211 hypertensive cases) versus the lower 25% of the SBP distribution (2211 hypotensive controls); and finally SBP and DBP as continuous traits (8842 subjects). The numbers of young hypertensive cases and elderly normotensive controls were not large enough to achieve genomewide significance. The model comparing the upper 25% subjects to the lower 25% of subjects showed a power that was approximate to that of QTL analysis. Two neighboring SNPs of the ATP2B1 gene, rs17249754 (SBP, p=$2.53^{-10}$; DBP, p=$1.28{\times}10^{-8}$) and rs7136259 (SBP, p=$1.30{\times}10^{-9}$; DBP, p=$6.41{\times}10^{-8}$), were associated with both SBP and DBP. Interestingly, a SNP of the RPL6 gene, rs11066280, revealed a significant genomewide association with SBP in men only (p=$3.85{\times}10^{-8}$), and four SNPs located near the MAN2A1 gene showed a strong association with DBP only in elderly men aged 60-70 years (e.g., rs6421827, p=$4.86{\times}10^{-8}$). However, we did not observe any gene variant attaining genomewide significance consistently in the three phenotype models except for the ATP2B1 gene variants. In general, the association signal with blood pressure was stronger in women than in men. Genes identified in GWASs are expected to open the way for prevention, early diagnosis, and personalized treatment of hypertension.

Agronomic Characteristics of Rice Recombinant Inbred Lines (RILs) Developed from a Cross of Nonganbyeo and BG 279

  • Lee, Jeom-Ho;Kim, Nam-Soo;Cho, Youn-Sang;Song, Moon-Tae;Hwang, Hung-Goo;Moon, Huhn-Pal
    • 한국작물학회지
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    • 제44권1호
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    • pp.86-94
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    • 1999
  • A set of rice recombinant inbred lines was developed from a cross between a Tongil type variety, Nonganbyeo, and an indica variety, BG276, by the single seed descent method. The number of the lines in the population was 272. All the agronomic characters studied except ADV (alkali-digestion value) showed continuous variation among the RILs, implying that their inheritance mode should be quantitative. The patterns of the variation in the RILs were either normal or skewed distribution. ADVs of RILs were segregated into two groups with 1:1 ratio, indicating that ADVs in this KIL population might be controlled by one major gene. Transgressive variations were also observed in all characters. Heritability values of the characters varied from 0.488 in brown/rough rice ratio to 0.895 in alkali-digestion value. In the analysis of genotypic and phenotypic correlations, the character of yield was positively correlated with 8 different agronomic characters. The number of panicles per hill was negatively correlated with culm length, panicle length, and number of spikelets per panicle. Grain length was positively correlated with grain width, grain thickness, grain length/width ratio, white belly, ADV, and amylose. However, grain length/width ratio was negatively correlated with grain width. White core was also negatively correlated with white belly and ADV.

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