Scott Hebbring

Research Description:
My research interests include understanding how genetics contributes to human health. There are many examples of genetic variants/mutations that cause rare Mendelian diseases. Some of the best clinically relevant variants are loss of function mutations that result in a gene’s function being attenuated. Obvious examples could include nonsense, splicing, and frame-shift variants. Recent data from the “1000 Genomes Project” estimated that healthy individuals may carry between 50 and 100 known deleterious mutations causing inherited disorders. In addition, this study estimated that individuals may carry more than 250 novel loss-of-function variants, with many in clinically relevant genes. Given the importance of these types of variants as it relates to gene function and their potential role in human disease, my work is aimed at investigating the potential correlational role of loss of function polymorphisms, of unknown clinical relevance, with a spectrum of human disease phenotypes as defined by electronic health records within Marshfield Clinic’s Personalized Medicine Research Project.

Representative Publications:
Search PubMed for more publications by Scott Hebbring

Hebbring S. The Challenges, Advantages, and Future of Phenome-Wide Association Studies. IMMUNOLOGY 2014;141:157-65.
PubMed ID: 24147732

Hebbring S, Schrodi SJ, Ye Z, Zhou Z, Page D, Brilliant MH. A PheWAS approach in studying HLA-DRB1*1501 GENES IMMUN 2013;14:187-91.
PubMed ID: 23392276

Hebbring S, Slager S, Epperla N, Mazza JJ, Ye Z, Zhou Z, Achenbach S, Vasco DA, Call T, Rabe K, Kay NE, Caporaso NE, Lanasa M, Camp N, Strom S, Goldin L, Cerhan J, Brilliant MH, Schrodi SJ. Genetic evidence of PTPN22 effects on chronic lymphocytic leukemia. BLOOD 2013;121:237-8.
PubMed ID: 23287625

Bailey-Wilson J, Childs E, Cropp C, Schaid DJ, Xu J, Camp N, Cannon-Albright L, Farnham J, George A, Powell I, Carpten J, Giles GG, Hopper JL, Severi G, English DR, Foulkes W, Maehle L, Moller P, Eeles R, Easton D, Guy M, Edwards S, Badzioch M, Whittemore A, Oakley-Girvan I, Hsieh C, Dimitrov L, Standford J, Karyadi D, Deutsch K, McIntosh L, Ostrander E, Wiley K, Isaacs S, Walsh P, Thibodeau SN, McDonnell S, Hebbring S, Lange E, Cooney K, Tammela T, Schleutker J, Maier C, Bochum S, Hoegel J, Gronberg H, Wiklund F, Emanuelsson M, Cancel-Tassin G, Valeri A, Cussenot O, Isaacs W, International Consortium for Prostate Cancer Genetics . Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families. BMC MED GENET 2012;13
PubMed ID: 22712434

Abo R, Hebbring S, Ji Y, Zhu H, Zeng Z, Batzler A, Jenkins G, Biernacka J, Snyder K, Drews M, Fiehn O, Fridley B, Schaid D, Kamatani N, Nakamura Y, Kubo M, Mushiroda T, Kaddurah-Daouk R, Mrazek D, Weinshilboum RM. Merging pharmacometabolomics with pharmacogenomics using ‘1000 Genomes’ single-nucleotide polymorphism imputation: selective serotonin reuptake inhibitor response pharmacogenomics. PHARMACOGENET GENOM 2012;22:247-253.
PubMed ID: 22322242

Hebbring S, Chai Y, Ji Y, Abo R, Jenkins G, Fridley B, Zhang J, Eckloff B, Wieben E, Weinshilboum RM. Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization. J NEUROCHEM 2012;120:881-90.
PubMed ID: 22220685

Lu L, Cancel-Tassin G, Valeri A, Cussenot O, Lange E, Cooney K, Farnham J, Camp N, Cannon-Albright L, Tammela T, Schleutker J, Hoegel J, Herkommer K, Maier C, Vogel W, Wiklund F, Emanuelsson M, Gronberg H, Wiley K, Isaacs S, Walsh P, Helfand B, Kan D, Catalona WJ, Stanford J, FitzGerald L, Johanneson B, Deutsch K, McIntosh L, Ostrander E, Thibodeau SN, McDonnell S, Hebbring S, Schaid DJ, Whittemore A, Oakley-Girvan I, Hsieh C, Powell I, Bailey-Wilson J, Cropp C, Simpson C, Carpten J, Seminara D, Zheng S, Xu J, Giles GG, Severi G, Hopper JL, English DR, Foulkes W, Maehle L, Moller P, Badzioch M, Edwards S, Guy M, Eeles R, Easton D, Isaacs W, International Consortium for Prostate Cancer Genetics . Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG PROSTATE 2012;72:410-26.
PubMed ID: 21748754

Feng Q, Kalari K, Fridley B, Jenkins G, Ji Y, Abo R, Hebbring S, Zhang J, Nye M, Leeder J, Weinshilboum RM. Betaine-homocysteine methyltransferase: human liver genotype-phenotype correlation. MOL GENET METAB 2011;102:126-33.
PubMed ID: 21093336

Ji Y, Hebbring S, Zhu H, Jenkins G, Biernacka J, Snyder K, Drews M, Fiehn O, Zeng Z, Schaid D, Mrazek D, Kaddurah-Daouk R, Weinshilboum RM. Glycine and a glycine dehydrogenase (GLDC) SNP as citalopram/escitalopram response biomarkers in depression: pharmacometabolomics-informed pharmacogenomics. CLIN PHARMACOL THER 2011;89:97-104.
PubMed ID: 21107318

Kalari K, Hebbring S, Chai H, Li L, Kocher J, Wang L, Weinshilboum RM. Copy number variation and cytidine analogue cytotoxicity: a genome-wide association approach. BMC GENOMICS 2010;11:357.
PubMed ID: 20525348

Fridley B, Jenkins G, Deyo-Svendsen M, Hebbring S, Freimuth R. Utilizing genotype imputation for the augmentation of sequence data. PLoS One 2010;5:e11018.
PubMed ID: 20543988

Kalari K, Hebbring S, Chai H, Li L, Kocher J, Wang L, Weinshilboum RM. Copy number variation and cytidine analogue cytotoxicity: a genome-wide association approach. BMC GENOMICS 2010;11:357.
PubMed ID: 20525348

Christensen G, Baffoe-Bonnie A, George A, Powell I, Bailey-Wilson J, Carpten J, Giles GG, Hopper JL, Severi G, English DR, Foulkes W, Maehle L, Moller P, Eeles R, Easton D, Badzioch M, Whittemore A, Oakley-Girvan I, Hsieh C, Dimitrov L, Xu J, Stanford J, Johanneson B, Deutsch K, McIntosh L, Ostrander E, Wiley K, Isaacs S, Walsh P, Isaacs W, Thibodeau SN, McDonnell S, Hebbring S, Schaid DJ, Lange E, Cooney K, Tammela T, Schleutker J, Paiss T, Maier C, Gronberg H, Wiklund F, Emanuelsson M, Farnham J, Cannon-Albright L, Camp N, International Consortium for Prostate Cancer Genetics . Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses. PROSTATE 2010;70:735-44.
PubMed ID: 20333727

Hebbring S, Moyer A, Weinshilboum RM. Sulfotransferase gene copy number variation: pharmacogenetics and function. CYTOGENET GENOME RES 2008;123:205-10.
PubMed ID: 19287157

Wang L, McDonnell S, Hebbring S, Cunningham J, St Sauver J, Cerhan J, Isaya G, Schaid DJ, Thibodeau SN. Polymorphisms in mitochondrial genes and prostate cancer risk. Cancer Epidemiol Biomarkers Prev 2008;17:3558-66.
PubMed ID: 19064571

Johanneson B, McDonnell S, Karyadi D, Hebbring S, Wang L, Deutsch K, McIntosh L, Kwon E, Suuriniemi M, Standford J, Schaid DJ, Ostrander E, Thibodeau SN. Fine mapping of familial prostate cancer families narrows the interval for a susceptibility locus on chromosome 22q12.3 to 1.36 Mb. HUM GENET 2008;123:65-75.
PubMed ID: 18066601

Moyer A, Salavaggione O, Hebbring S, Moon I, Hildebrandt M, Eckloff B, Schaid DJ, Wieben E, Weinshilboum RM. Glutathione S-transferase T1 and M1: gene sequence variation and functional genomics. CLIN CANCER RES 2007;13:7207-16.
PubMed ID: 18056202

Camp N, Cannon-Albright L, Farnham J, Baffoe-Bonnie A, George A, Powell I, Bailey-Wilson J, Carpten J, Giles GG, Hopper JL, Severi G, English DR, Foulkes W, Maehle L, Moller P, Eeles R, Easton D, Badzioch M, Whittemore A, Oakley-Girvan I, Hsieh C, Dimitrov L, Xu J, Standford J, Johanneson B, Deutsch K, McIntosh L, Ostrander E, Wiley K, Isaacs S, Walsh P, Thibodeau SN, McDonnell S, Hebbring S, Schaid DJ, Lange E, Cooney K, Tammela T, Schleutker J, Paiss T, Maier C, Gronberg H, Wiklund F, Emanuelsson M, Isaacs W, International Consortium for Prostate Cancer Genetics . Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics. HUM MOL GENET 2007;16:1271-8.
PubMed ID: 17478474

Cunningham J, Hebbring S, McDonnell S, Cicek M, Christensen G, Wang L, Jacobsen SJ, Cerhan J, Blute M, Schaid DJ, Thibodeau SN. Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer. Cancer Epidemiol Biomarkers Prev 2007;16:969-78.
PubMed ID: 17507624

Wang L, McDonnell S, Slusser JP, Hebbring S, Cunningham J, Jacobsen SJ, Cerhan J, Blute M, Schaid DJ, Thibodeau SN. Two common chromosome 8q24 variants are associated with increased risk for prostate cancer. CANCER RES 2007;67:2944-50.
PubMed ID: 17409399

Hebbring S, Adjei A, Baer J, Jenkins G, Zhang J, Cunningham J, Schaid DJ, Weinshilboum RM, Thibodeau SN. Human SULT1A1 gene: copy number differences and functional implications. HUM MOL GENET 2007;16:463-70.
PubMed ID: 17189289

Schaid DJ, McDonnell S, Zarfas K, Cunningham J, Hebbring S, Thibodeau SN, Eeles R, Easton DF, Foulkes W, Simard J, Giles GG, Hopper JL, Mahle L, Moller P, Badzioch M, Bishop D, Evans C, Edwards S, Meitz J, Bullock S, Hope Q, Guy M, Hsieh C, Halpern J, Balise R, Oakley-Girvan I, Whittemore A, Xu J, Dimitrov L, Chang B, Adams T, Turner A, Meyers DA, Friedrichsen D, Deutsch K, Kolb S, Janer M, Hood L, Ostrander E, Standford J, Ewing C, Gielzak M, Isaacs S, Walsh P, Wiley K, Isaacs W, Lange E, Ho L, Beebe-Dimmer J, Wood D, Cooney K, Seminara D, Ikonen T, Baffoe-Bonnie A, Fredriksson H, Matikainen M, Tammela T, Bailey-Wilson J, Schleutker J, Maier C, Herkommer K, Hoegel J, Vogel W, Paiss T, Wiklund F, Emanuelsson M, Stenman E, Jonsson B, Gronberg H, Camp N, Farnham J, Cannon-Albright L, Catalona WJ, Suarez B, Roehl K. Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics. HUM GENET 2006;120:471-85.
PubMed ID: 16932970

Hebbring S, Fredriksson H, White K, Maier C, Ewing C, McDonnell S, Jacobsen SJ, Cerhan J, Schaid DJ, Ikonen T, Autio V, Tammela T, Herkommer K, Paiss T, Vogel W, Gielzak M, Sauvageot J, Schleutker J, Cooney K, Isaacs W, Thibodeau SN. Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer. Cancer Epidemiol Biomarkers Prev 2006;15:935-8.
PubMed ID: 16702373

Roberts R, Bergstralh EJ, Farmer S, Jacobson D, Hebbring S, Cunningham J, Thibodeau SN, Lieber MM, Jacobsen SJ. Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia. PROSTATE 2006;66:392-404.
PubMed ID: 16302261

Mullan R, Bergstralh EJ, Farmer S, Jacobson D, Hebbring S, Cunningham J, Thibodeau SN, Lieber MM, Jacobsen SJ, Roberts R. Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men. UROLOGY 2006;67:300-5.
PubMed ID: 16461080

Xu J, Dimitrov L, Chang B, Adams T, Turner A, Meyers DA, Eeles R, Easton DF, Foulkes W, Simard J, Giles GG, Hopper JL, Mahle L, Moller P, Bishop T, Evans C, Edwards S, Meitz J, Bullock S, Hope Q, Hsieh C, Halpern J, Balise R, Oakley-Girvan I, Whittemore A, Ewing C, Gielzak M, Isaacs S, Walsh P, Wiley K, Isaacs W, Thibodeau SN, McDonnell S, Cunningham J, Zarfas K, Hebbring S, Schaid DJ, Friedrichsen D, Deutsch K, Kolb S, Badzioch M, Jarvik G, Janer M, Hood L, Ostrander E, Stanford J, Lange E, Beebe-Dimmer J, Mohai C, Cooney K, Ikonen T, Baffoe-Bonnie A, Fredriksson H, Matikainen M, Tammela T, Bailey-Wilson J, Schleutker J, Maier C, Herkommer K, Hoegel J, Vogel W, Paiss T, Wiklund F, Emanuelsson M, Stenman E, Jonsson B, Gronberg H, Camp N, Farnham J, Cannon-Albright L, Seminara D, ACTANE Consortium . A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. AM J HUM GENET 2005;77:219-29.
PubMed ID: 15988677

Klein C, Wu Y, Kruckeberg K, Hebbring S, Anderson S, Cunningham J, Dyck P, Klein D, Thibodeau SN, Dyck PJ. SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies. J NEUROL NEUROSUR PS 2005;76:1022-4.
PubMed ID: 15965219

Schaid DJ, McDonnell S, Hebbring S, Cunningham J, Thibodeau SN. Nonparametric tests of association of multiple genes with human disease. AM J HUM GENET 2005;76:780-93.
PubMed ID: 15786018

Roberts R, Bergstralh EJ, Farmer S, Jacobson D, McGree M, Hebbring S, Cunningham J, Anderson S, Thibodeau SN, Lieber MM, Jacobsen SJ. Polymorphisms in the 5alpha reductase type 2 gene and urologic measures of BPH. PROSTATE 2005;62:380-7.
PubMed ID: 15389785

Narla G, Difeo A, Reeves H, Schaid DJ, Hirshfeld J, Hod E, Katz AS, Isaacs W, Hebbring S, Komiya A, McDonnell S, Wiley K, Jacobsen SJ, Isaacs S, Walsh P, Zheng S, Chang B, Friedrichsen D, Stanford J, Ostrander E, Chinnaiyan A, Rubin M, Xu J, Thibodeau SN, Friedman SL, Martignetti J. A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk. CANCER RES 2005;65:1213-22.
PubMed ID: 15735005

Schaid DJ, Guenther J, Christensen G, Hebbring S, Rosenow C, Hilker C, McDonnell S, Cunningham J, Slager S, Blute M, Thibodeau SN. Comparison of microsatellites versus single-nucleotide polymorphisms in a genome linkage screen for prostate cancer-susceptibility Loci. AM J HUM GENET 2004;75:948-65.
PubMed ID: 15514889

Debes J, Yokomizo A, McDonnell S, Hebbring S, Christensen G, Cunningham J, Jacobsen SJ, Tindall D, Liu W, Schaid DJ, Thibodeau SN. Gluthatione-S-transferase P1 polymorphism I105V in familial and sporadic prostate cancer. CANCER GENET CYTOGEN 2004;155:82-6.
PubMed ID: 15527908

French A, Petroni G, Thibideau S, Smolkin M, Bissonette E, Roviello F, Harper J, Koch B, Anderson S, Hebbring S, Powell S. Allelic imbalance of 8p indicates poor survival in gastric cancer. J MOL DIAGN 2004;6:243-52.
PubMed ID: 15269302

Roberts R, Bergstralh EJ, Cunningham J, Hebbring S, Thibodeau SN, Jacobsen SJ. Androgen receptor gene polymorphisms and increased risk of urologic measures of benign prostatic hyperplasia. AM J EPIDEMIOL 2004;159:269-76.
PubMed ID: 14742287

Cunningham J, McDonnell S, Marks A, Hebbring S, Anderson S, Peterson B, Slager S, French A, Blute M, Schaid DJ, Thibodeau SN, Mayo Clinic Rochester Minnesota . Genome linkage screen for prostate cancer susceptibility loci: results from the Mayo Clinic Familial Prostate Cancer Study. PROSTATE 2003;57:335-46.
PubMed ID: 14601030

Wang L, McDonnell S, Cunningham J, Hebbring S, Jacobsen SJ, Cerhan J, Slager S, Blute M, Schaid DJ, Thibodeau SN. No association of germline alteration of MSR1 with prostate cancer risk. NAT GENET 2003;35:128-9.
PubMed ID: 12958598

Klein C, Cunningham J, Atkinson E, Schaid DJ, Hebbring S, Anderson S, Klein D, Dyck PJ, Litchy WJ, Thibodeau SN, Dyck P. The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. NEUROLOGY 2003;60:1151-6.
PubMed ID: 12682323

Slager S, Schaid DJ, Cunningham J, McDonnell S, Marks A, Peterson B, Hebbring S, Anderson S, French A, Thibodeau SN. Confirmation of linkage of prostate cancer aggressiveness with chromosome 19q. AM J HUM GENET 2003;72:759-62.