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To understand the transcriptional regulatory mechanisms that might underpin the observed genetic associations with hair colour, we examined the potential for these variants to affect the chromatin landscape in cell types relevant to pigmentation.
For these traits, we expect largely the same variants to affect the mean and environmental sensitivity.
We decided to include all available 150,394 coding variants on the screening arrays, as these variants have a greater potential than non-coding variants to affect gene function.
Any tendency for the variants to affect height in childhood but not in adults might reflect a role in the rate of skeletal maturation without influencing final height achieved.
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Frameshift variants, missense variants, or variants predicted to affect splicing were further screened by DHPLC in 93 controls.
For each variant, genomic sequences of overlapping transcripts are retrieved from the UCSC knownGene database (Hsu et al., 2006) to identify variants leading to premature stop codons, non-synonymous variants and variants likely to affect splicing.
Another limitation may be that it is unknown how likely genetic variants are to affect the variance of the measures used for determining iron status rather than the actual total body iron.
The authors also described five missense variants in POLQ in other 38 women with SBC, but none of these variants seemed to affect gene function [ 2].
5 Most of the recently identified variants seem to affect beta-cell function, 6 but the fat mass and obesity-associated gene (FTO -variants have been shown to inFTO -variantsisk thavegh a primary effect on weight and obeenty.
Lower scores indicate increased evidence; category 2 scores are variants likely to affect binding, category 3 scores are less likely to affect binding; and 4, 5, or 6 scores are variants with minimal binding evidence.
NTRK2 has been linked previously to how well patients respond to the psychotropic drug lithium, whereas HTR2A variants appear to affect response to serotonin-based antidepressants such as Prozac.
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