1. Advances in human genomics research have identified over 800 genetic loci associated with common diseases like type 2 diabetes through genome-wide association studies and candidate gene studies.
2. Further research has found that most type 2 diabetes genes identified play a role in pancreatic beta-cell function, and that both frequent and rare genetic variants contribute to disease risk.
3. Integrating human genomics with metabolic medicine offers advantages for personalized healthcare, including identifying new drug targets, predicting drug responses and side effects, improving clinical trial design, and enabling more optimized long-term patient care.
6. Central Nervous System Adipose Tissue FTO MC4R POMC PCSK1 LEPR ENPP1 NPC1 PRL BDNF TRKB SIM1 TMEM18 KCTD15 SH2B1 NEGR1 GNPDA2 NRXN3 LEP LEPR MAF PRL, ENPP1 NEGR1 Obesity is a neuro (endocrine) disorder
7. From the frequent variants/frequent disease theory to the rare variants/frequent disease hypothesis Allele frequency Effect size ENPP1 PPARG KCNJ11 CAPN10 HNF4A HNF1A “ Rare but common” variants with strong effects on physiology Frequent DNA variants (SNP) only explain modest part of the heritability “ Rare” variants: Copy Number Variations (GSV) and point mutations
8. Walters et al, nature, 4th of February, 2010 The screening of children with extreme obesity identify rare CNV
9. Walters et al, nature, 2010 The effect of the chromosome 16p 11.2 microdeletion on obesity is age-dependent 25 kg/m 2 Morbid obesity Obesity The increased risk for Morbid Obesity is 4300%
13. Whole Genome Sequencing identifies mutations increasing disease risk and modulating response to various drugs
14. The evaluation of the interaction of the environment with the clinical genome allows a comprehensive health assessment
15. Genomics and System Medicine can bring an optimized Metabolic/CV disease care The Personalized Medicine shift challenge
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Notes de l'éditeur
However, few genes were identified and consistently replicated, and their association with T2D was relatively modest. At this time, we did’nt know if one could find more interesting markers.