Also shown is the location of known SNPs within the gene reported to be genome wide associated with other traits and diseases (source: NIHGR GWAS database, http://www.genome.gov/gwastudies/; November 2013), that are in LD (r > 0.2) with any of the endometriosis SNPs.
Many methods and approaches have been proposed to identify disease candidate genes, such as single variant or gene analysis, haplotype analysis, meta-analysis of variants, epistatic analysis, genome-wide associate studies (GWAS), multiple dimensional evidence-based approaches, and network and pathway approaches [37] [39].
No other region in the genome showed genome-wide associated SNPs.
Mutations in KCNQ1 are known to cause the autosomal-recessive and -dominant forms of the long QT-syndrome (Jervell and Lange-Nielsen [19] and Romano-Ward [20]), and common variation has also been genome-wide associated with altered QT interval [21], [22].
The novel genome-wide associated SNP for age at menopause (rs1800932) and SNPs in LD with this SNP (r > 0.9) were searched against a multi-tissue eQTL database of expression of SNP results (3).
However, while a narrow cline will tend to steepen wider associated clines, we do not expect the reverse to the same degree – a wide cline is likely to have little effect in steeping an associated cline that already changes at a much smaller scale.
SNPs identified from genome-wide association studies associate with lipid risk markers of cardiovascular disease.
Genome-wide association studies (GWAS) associate genomic variants with a trait of interest to identify positional candidate loci [ 13, 14].
Importantly, independent genome-wide association studies have associated other SNPs in FGFR2 with breast cancer [ 11, 12].
The extremely wide errors associated with predicting exposure stand in striking contrast to the error range associated with the extrapolation of animal effects data to the human being.
Norman Mailer once said of "The Sopranos" that the "wide canvas" associated with the Great American Novel was "moving to television".
