Contribution to Society
Understanding the inheritance of a disease and the disease gene’s location in the genome constitute the first steps in identifying a disease gene and, eventually, developing a treatment for the disease. Once the disease gene is localized in the genome, we gain a better opportunity for predicting who may get the disease and, therefore, providing more accurate and specific genetic counseling.
Research Summary
My interests lie in the development and application of methodology for the statistical analysis of genetic diseases in families. The goal of the analysis may be to determine how the disease is inherited or the location of the disease gene in the genome. I am interested in three aspects: 1) developing statistical methodology, 2) computerization of the methodology, and 3) analysis of family data using the methodology. I develop and computerize new methodology through modification of PAP (Pedigree Analysis Package), a software package a have written for the analysis of family data. I am currently applying the methodology to finding the genes for venous thrombosis, aging, and type 2 diabetes.
Recent Publications
Hasstedt SJ, Scott BT, Callas PW, Vossen CV, Rosendaal FR, Long GL, Bovill EG (2004) Genome scan of venous thrombosis in a pedigree with protein C deficiency. J Thromb Haemost 2:868-873.
Hunt SC, Coon H, Hasstedt SJ, Cawthon RM, Camp NJ, Wu LL, Hopkins PN (2004) linkage of serum creatinine and glomerular filtration rate to chromosome 2 in Utah pedigrees. Am J Hypertens 17:511-515.
Das SK, Hasstedt SJ, Zhang Z, Elbein SC (2004) Linkage and association mapping of a chromosome 1q21-q24 type 2 diabetes susceptibility locus in northern European Caucasians. Diabetes 53:492-499.
Vossen CY, Hasstedt SJ, Rosendaal FR, Callas PW, Bauer KA, Broze GJ, Hoogendoorn H, Long GL, Scott BT, Bovill EG (2004) Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient family. J Throm Haemost 2:242-247.
Wang H, Chu WS, Lu T, Hasstedt SJ, Kern PA, Elbein SC (2004) Uncoupling protein-2 polymorphisms in type 2 diabetes, obesity, and insulin secretion. Am J Physiol Endocrinol Metab 286:E1-7.
Malhotra A, Peiffer AP, Ryujin DT, Elsner T, Kanner RE, Leppert MF, Hasstedt SJ (2003) Further evidence for a role of genes on chromosome 2 and chromosome 5 in the inheritance of pulmonary function. Am J Respir Crit Care Med 168:556-561.
Camp NJ, Hopkins PN, Hasstedt SJ, Coon H, Malhotra A, Cawthon RM, Hunt SC (2003) Genome-wide multipoint parametric linkage analysis of pulse pressure in large, extended Utah pedigrees. Hypertension 42:322-328.
Wang H, Chu W, Das SK, Zheng Z, Hasstedt SJ, Elbein SC (2003) Molecular screening and association studies of retinoid-related orphan receptor gamma (RORC): a positional and functional candidate for type 2 diabetes. Mol Genet Metabol 79: 176-182.
Scott BT, Hasstedt SJ, Bovill EG, Callas PW, Valliere JE, Wang L-H, Wu KK, Long GL (2002) Characterization of the human prostaglandin H synthase 1 gene (PTGS1): Exclusion by genetic linkage analysis as a second modifier gene in familial thrombosis, Blood Coagul Fibrinalysis 13:519-531.
Hunt SC, Hasstedt SJ, Coon H, Camp NJ, Cawthon RM, Wu LL, Hopkins PN (2002) Linkage of creatinine clearance to chromosome 10 in Utah pedigrees replicates a locus for end-stage renal disease in humans and renal failure in the fawn-hooded rat. Kidney Int 62:1143-1148.
Wang H, Chu W, Das HJ, Ren Q, Hasstedt SJ, Elbein SC (2002) Liver pyruvate kinase polymorphisms are associated with type 2 diabetes in northern European Caucasians. Diabetes 51:2861-2865.
Wang H, Chu W, Hemphill C, Hasstedt SJ, Elbein SC (2002) Mutation screening and association of human retinoid X receptor gamma variation with lipid levels in familial type 2 diabetes. Molec Genet Metab 76:14-22.
Elbein SC, Chu W, Ren Q, Wang H, Hemphill, C, Hasstedt SJ (2002) Evaluation of apolipoprotein A-II as a positional candidate gene for familial type II diabetes, altered lipid concentrations, and insulin resistance. Diabetologia 45:1026-1033.
Elbein SC, Chu W, Ren Q, Hemphill C, Schay J, Cox NJ, Hanis CL, Hasstedt SJ (2002) Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians. JCEM 87:650-654.
Elbein SC, Hasstedt SJ (2002) Quantitative trait linkage analysis of lipid-related traits in familial type 2 diabetes. Evidence for linkage of triglyceride levels to chromosome 19q. Diabetes 51:528-535.
Elbein SC, Sun J, Scroggin E, Teng K, Hasstedt SJ (2001) Role of common sequence variants in insulin secretion in familial type 2 diabetic kindreds: the sulfonylurea receptor, glucokinase, and hepatocyte nuclear factor 1a genes. Diabetes Care 24(3):472-478.
Scott BT, Bovill EG, Callas PW, Hasstedt SJ, Leppert MF, Valliere JE, Varvil TS, Long GL (2001) Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred. Thromb Haemost 85:82-87.
Hasstedt SJ, Ren Q-F, Teng K, Elbein SC (2001) Effect of the Peroxisome Proliferator Activated Receptor- 2 (PPAR 2) Pro12Ala Variant on obesity, glucose homeostasis, and blood pressure in members of familial type 2 diabetic kindreds. J Clin Endocrinol Metab 86:536-541. |