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Biological, clinical and population relevance of 95 loci for blood lipids
Teslovich, Tanya M.,Musunuru, Kiran,Smith, Albert V.,Edmondson, Andrew C.,Stylianou, Ioannis M.,Koseki, Masahiro,Pirruccello, James P.,Ripatti, Samuli,Chasman, Daniel I.,Willer, Cristen J.,Johansen, C Nature Publishing Group, a division of Macmillan P 2010 Nature Vol.466 No.7307
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants associated with plasma lipids in >100,000 individuals of European ancestry. Here we report 95 significantly associated loci (P??<??5?????10<SUP>??8</SUP>), with 59 showing genome-wide significant association with lipid traits for the first time. The newly reported associations include single nucleotide polymorphisms (SNPs) near known lipid regulators (for example, CYP7A1, NPC1L1 and SCARB1) as well as in scores of loci not previously implicated in lipoprotein metabolism. The 95 loci contribute not only to normal variation in lipid traits but also to extreme lipid phenotypes and have an impact on lipid traits in three non-European populations (East Asians, South Asians and African Americans). Our results identify several novel loci associated with plasma lipids that are also associated with CAD. Finally, we validated three of the novel genes??GALNT2, PPP1R3B and TTC39B??with experiments in mouse models. Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
Pagadala Naga Balaji Nitesh,Vutukuru Venkatarami Reddy,Sivarama Krishna Gavini,Suresh Vaikkakara,Chandramaliteeswaran Chandraha,Musunuru Bramheswara Rao,Dasari Varun 한국간담췌외과학회 2020 Annals of hepato-biliary-pancreatic surgery Vol.24 No.2
Backgrounds/Aims: This study was done with the aim of assessing impact of surgery for chronic pancreatitis on exocrine and endocrine functions, quality of life and pain relief of patients. Methods: 35 patients of chronic pancreatitis who underwent surgery were included. Exocrine function assessed with fecal fat globule estimation and endocrine function assessed with glycated haemoglobin (HbA1C), fasting plasma glucose (FPG), Insulin and C-peptide levels. Percentage (%) beta cell function by homeostatic model assessment (HOMA) was determined using web-based calculator. Quality of life (QOL) and pain assessment was done using Short form survey (SF-36) questionnaire and Izbicki scores respectively. Follow up done till 3 months following surgery. Results: Endocrine insufficiency was noted in 13 (37%) patients in the postoperative period compared to 17 (49%) patients preoperatively (p=0.74). Exocrine insufficiency was detected in 11 (32%) patients postoperatively compared to 8 (23%) patients preoperatively, with denovo insufficiency noted in 3 (8%) patients (p<0.05). The mean Izbicki score at 3 months postoperatively was remarkably lower compared to preoperative score (29.3±14.3 vs. 60.6±12.06; p<0.05). QOL at 3 months following surgery for chronic pancreatitis was significantly better than preoperative QOL (50.24±22.16 vs. 69.48±20.81; p<0.05). Conclusions: Significant pain relief and improvement in quality of life among patients of chronic pancreatitis following surgery. However, worsening of exocrine function with only clinical improvement of endocrine function was also noted.