FinalReview2010c

FinalReview2010c - Variants and disease McCarthy et al...

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Variants and disease McCarthy et al Nature Review Genetics (2008) vol 9.
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Effect of risk alleles on BMI Weighted risk alleles were summed for each individual, and the overall individual sum was rounded to the nearest integer to represent the individual’s risk allele score (ranging from 16 to 44). Along the x axis, individuals in each risk allele category are shown (grouped as having <21 risk alleles and >38 risk alleles at the extremes), and the mean BMI is plotted (y axis on right), with the line representing the regression of the mean BMI values across the risk-allele scores.
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Effect size versus allele frequency Plot of effect size (in inverse- normally transformed units (invBMI)) versus effect-allele frequency of newly identified and previously identified BMI variants.
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Total number common obesity genes Cumulative number of susceptibility loci expected to be discovered, including those we have already identified and others that have yet to be detected, by the expected percentage of phenotypic variation explained and the sample size required.
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MC4R mutations and signaling activity
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0 50 100 150 200 250 300 Leptin MC4R MC4R MC4R MC4R controls deficiency Hom Het Hom Het complete LOF partial LOF Mean adlibitum energy intake (kJ/kg lean mass) 0 50 100 150 200 250 0-5 6-10 11-15 controls Age (yrs) Mean adlibitum energy intake (KJ/ kg lean mass) Energy intake in MC4R deficiency
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Does leptin influence fat mass across a broader range ? Farooqi et al. Nature 2001;414:34-5
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PC1 TRKB Human mutations in molecules involved in weight regulation
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Adipose neurons connect to MC4R (a) Brown staining indicates pseudo rabies virus (PRV) labeling and the dark blue staining indicates gene expression for the MC4-R. (b) Enlarged photomicrograph shows one PRV- labelled neuron, as indicated by the brown staining, containing MC4-R mRNA, as indicated by the dark blue staining.
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Effect of treatment Decrease of BMI-SDS (standard deviation score (mean) in nine children with melanocortin 4 receptor ( MC4R) gene mutations that lead to a reduced receptor function (group A) and 46 age and gender-matched children without MC4R mutations (group B) at the end of a 1-year lifestyle intervention and 1 year after end of intervention compared to baseline BMI-SDS, * P < 0.05.
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Response of retroperitoneal fat (RWAT pads to removal of epididymal fat (EWAT) Fat pad mass for retroperitoneal white adipose tissue (RWAT) of hamsters that underwent epididymal white adipose tissue (EWAT) capsaicin, surgical denervation, or lipectomy treatment. Dissimilar letters are significantly different from one another (P a 0.05).
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Retired male breeders.
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FinalReview2010c - Variants and disease McCarthy et al...

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