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myourshaw's common [4 articles]

 
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Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease

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European Journal of Human Genetics, Vol. 16 (2008), pp. 977-982
by Beate Skinningsrud, Eystein S. Husebye, Kristina Gervin, et al.Kristian Løvås, Anne Blomhoff, Anette B. Wolff, Helen E. Kemp, Thore Egeland, Dag E. Undlien
posted to cdcv cdrv common rare variant by myourshaw on 2008-09-19 20:16:48 **
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Abstract

The tyrosine-protein phosphatase non-receptor type 22 (PTPN22) gene was recently identified as an important genetic susceptibility factor in several autoimmune diseases. The increased risk has been broadly explained by the 1858T-allele (rs2476601). As two smaller studies on Addison's disease (AD) have shown diverging results, we aimed to elucidate the predisposing effect of the single-nucleotide polymorphism (SNP) 1858CT in a larger population of AD patients, especially focusing on the AD patients with known autoimmune etiology. We also screened for unknown rare or ...
 

Genome-wide association studies for common diseases and complex traits

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Nature Reviews Genetics, Vol. 6, No. 2. (February 2005), pp. 95-108
by Joel N. Hirschhorn, Mark J. Daly
posted to cdcv cdrv common rare variant by myourshaw on 2008-09-19 19:29:42 **
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Abstract

Genetic factors strongly affect susceptibility to common diseases and also influence disease-related quantitative traits. Identifying the relevant genes has been difficult, in part because each causal gene only makes a small contribution to overall heritability. Genetic association studies offer a potentially powerful approach for mapping causal genes with modest effects, but are limited because only a small number of genes can be studied at a time. Genome-wide association studies will soon become possible, and could open new frontiers in our understanding ...
 

Rare Variant Hypothesis for Multifactorial Inheritance: Susceptibility to Colorectal Adenomas as a Model

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Cell Cycle, Vol. 4, No. 4. (April 2005), pp. 521-525
by Nicola S. Fearnhead, Bruce Winney, Walter F. Bodmer
posted to cdcv cdrv common rare variant by myourshaw on 2008-09-19 18:54:38 **
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The rare variant hypothesis postulates that genetic susceptibility to colorectal neoplasia within the general population is due to a number of low frequency variants in a variety of different genes. Each variant confers a moderate, but detectable, increase in relative risk of developing the disease. Recent evidence suggests that a quarter of patients with multiple adenomatous polyps are due to rare but functionally important variants in just five genes. ...
 

✔ Common and rare variants in multifactorial susceptibility to common diseases

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Nat Genet, Vol. 40, No. 6. (28 June 2008), pp. 695-701, doi:10.1038/ng.f.136
by Walter Bodmer, Carolina Bonilla
posted to cdcv cdrv common rare variant by myourshaw on 2008-09-19 18:37:18 ***** along with 9 people astoddard daed dondon EmmanuelleGenin giovanni jbhiatt nbonifaci srp33 xingxu
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Abstract

Here, we give a historical overview of the search for genetic variants that influence the susceptibility of an individual to a chronic disease, from RA Fisher’s seminal work to the current excitement of whole-genome association studies (WGAS). We then discuss the concepts behind the identification of common variants as disease causal factors and contrast them to the basic ideas that underlie the rare variant hypothesis. The identification of rare variants involves the careful selection of candidate genes to examine, the availability of highly efficient resequencing techniques and the appropriate assessment ...
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