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Studies in the area of genetics & genomics reported from C. Palles and co-researchers.
"An important class of genetic variants that affect disease susceptibility may lie within regulatory elements that influence gene expression. Regulatory sequences are difficult to identify and may be distant from the genes they regulate, but many lie within evolutionarily conserved regions (ECRs)," scientists in London, the United Kingdom report (see also Genetics & Genomics).
"We used comparative genomics to identify 12 ECRs up to 75 kb 50 to and within introns of IGF1. These were screened by high-resolution melting curve analysis, and 18 single-nucleotide polymorphisms (SNPs) were identified, including five novel variants. We analysed two large population-based series of healthy women to test the nine SNPs with minor allele frequency (MAF) > 1% within ECRs. Three of the nine SNPs within ECRs (rs35455143, rs35765817 and rs3839984) were significantly associated with circulating IGF1 levels in a multivariate analysis (P
The researchers concluded: "Targeting ECRs appears to be a useful strategy for identifying a subset of potentially functional non-coding regulatory SNPs."
Palles and colleagues published their study in Human Molecular Genetics (Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy. Human Molecular Genetics, ...
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Source: HighBeam Research, Studies in the area of genetics & genomics reported from C....