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RISS 인기검색어
- 검색키워드
- 저자 : Donald W. Bowden (검색결과 3 건)
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Donald W. Bowden 한국유전학회 2011 Genes & Genomics Vol.33 No.1
A major focus of modern human genetics has been the search for genetic variations that contribute to human disease. These studies originated in families and used linkage methods as a primary analytical tool. With continued technical improvements,these family-based linkage studies have been very powerful in identifying genes contributing to monogenic disorders. When these methods were applied to disorders with complex,non-Mendelian patterns of inheritance they largely failed. The development of effective capabilities for Genome Wide Association Studies (GWAS) relegated family-based studies to a peripheral role in human genetics research. Despite the remarkable record of GWAS discoveries, common variations identified in GWAS account for a limited (frequently less than 10%) proportion of the heritable risk of qualitative traits or variance of quantitative traits. Next generation sequencing is facilitating a re-examination of family-based methods with surprising and intriguing results. We propose that rare variants of large effect underlie many linkage peaks, including complex quantitative phenotypes, and review the issues underlying this proposed basis for complex traits.
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Freedman, Barry I,Bowden, Donald W,Ziegler, Julie T,Langefeld, Carl D,Lehtinen, Allison B,Rudock, Megan E,Lenchik, Leon,Hruska, Keith A,Register, Thomas C,Carr, J Jeffrey Mary Ann Liebert, Inc 2009 Journal of bone and mineral research Vol.24 No.10
<P>Inverse relationships have been observed between BMD and vascular calcification (VC), suggesting an underlying metabolic pathway linking these processes. Bone morphogenetic proteins (BMPs) are potential candidate genes that may mediate this relationship. Four single nucleotide polymorphisms (SNPs) in the BMP2 gene, 2 SNPs in BMP4, and 16 SNPs in BMP7 were tested for association with measures of VC using CT (coronary and carotid arteries, abdominal aorta), and BMD was measured using DXA (lumbar spine, hip, and distal radius) and quantitative CT (QCT; thoracic and lumbar spine) in 920 European Americans from 374 Diabetes Heart Study families: 762 with type 2 diabetes. Variance components quantitative trait locus association analysis was computed using SOLAR software, and a bivariate principal component analysis (PCA) assessed for genetic relationships between BMD and VC. Association was observed between several measures of BMD and BMP7 rs17404303 (thoracic spine QCT p = 0.03; lumbar spine QCT p = 0.02; hip DXA p = 0.06, dominant models). In addition, 6 of 16 BMP7 SNPs showed significant and opposing effects on the bivariate PCA for VC and BMD (two-sided exact test, p = 0.0143). Polymorphisms in BMP7 are associated with inverse relationships between bone mineralization and VC in the coronary, carotid, and abdominal aorta in a diabetes-enriched cohort of European Americans.</P>
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Megan E. Rudock,Amanda. J. Cox,Julie T. Ziegler,Allison B. Lehtinen,Jessica J. Connelly,Barry I. Freedman,J. Jeffrey Carr,Elizabeth R. Hauser,Benjamin D. Horne,Donald W. Bowden 한국유전학회 2011 Genes & Genomics Vol.33 No.5
All manifestations of cardiovascular disease (CVD) are substantially more common in patients with type 2 diabetes mellitus (T2DM) than in non-diabetic individuals. The current study evaluated KALRN, a gene previously linked to CVD, as a contributor to CVD in a sample enriched for T2DM. Specifically,the potential modifying effect of cigarette smoking was examined. A total of 28 SNPs in KALRN were genotyped in 1001 European Americans from 369 Diabetes Heart Study (DHS) families, as well as 762 population-based controls. The association between each SNP and both qualitative and quantitative CVD disease phenotypes was determined using generalized estimating equations and variance component models,respectively. Selected KALRN SNPs were found to be associated with both the qualitative (T2DM, CVD, metabolic syndrome)and quantitative traits (C-reactive protein and abdominal aortic calcified plaque). Interaction analysis and stratification were then used to test whether smoking modulates the genetic effects of KALRN. The strongest evidence of a modifying effect of smoking status was observed for rs9289231 and intima-media thickness (p=9.0x10^(-4)) and abdominal aortic calcified plaque (p=3.0x10^(-4)). Overall, following stratification by smoking status, the evidence of association with quantitative traits was more pronounced in smokers compared to non-smokers. The strongest association for smokers was between rs1720960 and abdominal aortic calcified plaque (p=2.6x10^(-5)), while in non-smokers there was no observed association. KALRN variants are associated with measures of CVD and T2DM in the DHS sample with smoking status observed to have a significant modifying effect on these associations.
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