Gore A (Genetics) will perform the following services:Service 1: Manage clinical samplesCore A will coordinate the retrieval of blood and cheek cell samples from the 3000 cases and controls storedin the Channing Laboratory biorepository and the preparation of DMA from these samples.Service 2: Perform mutational analysis of candidate genes. Core A will use direct DNA sequence analysis toidentify DNA sequence variants in 34 candidate genes chosen on the basis of roles in calcium, oxalate,urate, and citrate homeostasis. SNP data from these genes will be used by Projects 1 and 2 for studies ofthe effect of genetic variants on protein function as well as the epidemiologic studies of Project 3.Service 3: Genotype variants (cSNPs defined as above and tagging SNPs) in 1500 stone formers and 1500controls. Core A will manage the SNP genotyping efforts of this program. This will include cSNPs (identifiedas above) and a set of tagging SNPs. The genotyping of other polymorphisms of specific interest toindividual projects will also be performed by the Core.Service 4: Maintain database and public website. Dissemination of the large volume of genetic datagenerated will be an important goal of this Program Project. The core will maintain a database of all geneticinformation obtained via Services 2 and 3. A publicly accessible website will make data quickly available tothe outside community.Service 5: cDNA construct production. Design, construction, mutagenesis, and verification of cDNA clonesfor expression studies in Projects 1 and 2 will be performed in Core A. The Core will also develop additionalexpression constructs to facilitate outside collaborations.Service 6: Mouse genotyping. Projects 1 and 2 will require ongoing mouse DNA preparation and genotyping.This genotyping will be performed by Core A in order to increase quality control and efficiency of mouseanalyses.In summary, the core will facilitate efforts of the Projects by coordination of genomic DNA preparation,sequencing, and genotyping (human and mouse studies), facilitation of the functional examination of genevariants via construct production, and management of data sharing with outside investigators.
| Mandal, Asim K; Mercado, Adriana; Foster, Andria et al. (2017) Uricosuric targets of tranilast. Pharmacol Res Perspect 5:e00291 |
| Pirastu, Nicola; Joshi, Peter K; de Vries, Paul S et al. (2017) GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. Nat Commun 8:1584 |
| Canales, Benjamin K; Smith, Jennifer A; Weiner, I David et al. (2017) Polymorphisms in Renal Ammonia Metabolism Genes Correlate With 24-Hour Urine pH. Kidney Int Rep 2:1111-1121 |
| Ibrahim-Verbaas, C A; Bressler, J; Debette, S et al. (2016) GWAS for executive function and processing speed suggests involvement of the CADM2 gene. Mol Psychiatry 21:189-197 |
| Cornelis, Marilyn C; Flint, Alan; Field, Alison E et al. (2016) A genome-wide investigation of food addiction. Obesity (Silver Spring) 24:1336-41 |
| Huang, Tao; Qi, Qibin; Zheng, Yan et al. (2015) Genetic Predisposition to Central Obesity and Risk of Type 2 Diabetes: Two Independent Cohort Studies. Diabetes Care 38:1306-11 |
| Zimmermann, E; Ängquist, L H; Mirza, S S et al. (2015) Is the adiposity-associated FTO gene variant related to all-cause mortality independent of adiposity? Meta-analysis of data from 169,551 Caucasian adults. Obes Rev 16:327-340 |
| Gottlieb, D J; Hek, K; Chen, T-H et al. (2015) Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study. Mol Psychiatry 20:1232-9 |
| Ferraro, Pietro Manuel; Curhan, Gary C; Sorensen, Mathew D et al. (2015) Physical activity, energy intake and the risk of incident kidney stones. J Urol 193:864-8 |
| Taylor, Eric N; Hoofnagle, Andrew N; Curhan, Gary C (2015) Calcium and phosphorus regulatory hormones and risk of incident symptomatic kidney stones. Clin J Am Soc Nephrol 10:667-75 |
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