General Background on IL1 Genetic Variations

  1. Rogus J, Beck JD, Offenbacher S, Huttner K, lacoviello L, Latella MC, de Gaetano M, Wang HY, Komman KS, Duff GW. (2008) IL1B gene promoter haplotype pairs predict clinical levels of Interleukin-1beta and C-reactive protein. Hum Genet. May;123(4):387-98.
  2. Chen, H., Wilkins, L.M., Aziz, N., Cannings, C., Wyllie, D.H., Bingle, C., Rogus, J., Beck, J.D., Offenbacher, S., Cork, M.J. et al. (2006) Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context. Hum Mol Genet,
  3. Nicklin, M.J., Barton, J.L., Nguyen, M., FitzGerald, M.G., Duff, G.W. and Kornman, K. (2002) A sequence-based map of the nine genes of the human interleukin-1 cluster. Genomics, 79, 718-25.
  4. Duff, G.W. (2000) The cytokine network. In F, B. (ed.), Frontiers in Molecular Biology. Oxford University Press, London, Vol. 25, pp. 152-173.
  5. Cox, A., Camp, N.J., Nicklin, M.J., di Giovine, F.S. and Duff, G.W. (1998) An analysis of linkage disequilibrium in the interleukin-1 gene cluster, using a novel grouping method for multiallelic markers. Am J Hum Genet, 62, 1180-8.

IL1 genetic variations increase risk for Periodontal Disease

  1. Giannobile WV, Braun™,Capalis AK, Doucette-Stamm L, Duff GW, Kornman KS, Patient Stratification for Preventive care in Dentistry (2013) J Dental Res, Aug;92(8):694-701
  2. Karimbux N.Y., Saraiya V.M., Elangovan S, Allareddy V, Kinnunen T, Kornman K.S., Duff G.W. (2012) Interleukin-1 gene polymorphisms and chronic periodontitis in adult whites: a systematic review and meta-analysis. J Periodontol. Nov;83(11):1407-19.
  3. Kornman KS, Duff GW. (2012) Personalized medicine – will dentistry ride the wave or watch from the beach? J Dent Res. Jul;91(7 Suppl):8S-S11.
  4. Kornman KS, Clem D. (2010) The “innovator’s dilemma” for periodontists. J Periodontol. May;81(5):646-9.
  5. Kornman KS. (2008) Mapping the pathogenesis of periodontitis: a new look. J Periodontol. Aug;79(8 Suppl):1560-8.
  6. Feloutzis, A., Lang, N.P., Tonetti, M.S., Burgin, W., Bragger, U., Buser, D., Duff, G.W. and Kornman, K.S. (2003) IL-1 gene polymorphism and smoking as risk factors for peri-implant bone loss in a well-maintained population. Clin Oral Implants Res, 14, 10-7.
  7. Kornman, K.S. and Duff, G.W. (2001) Candidate genes as potential links between periodontal and cardiovascular diseases. Ann Periodontol, 6, 48-57.
  8. Lang, N.P., Tonetti, M.S., Suter, J., Sorrell, J., Duff, G.W. and Kornman, K.S. (2000) Effect of interleukin-1 gene polymorphisms on gingival inflammation assessed by bleeding on probing in a periodontal maintenance population. J Periodontal Res, 35, 102-7.
  9. Hart, T.C. and Kornman, K.S. (1997) Genetic factors in the pathogenesis of periodontitis. Periodontol 2000, 14, 202-15.
  10. McDevitt, M.J., Wang, H.Y., Knobelman, C., Newman, M.G., di Giovine, F.S., Timms, J., Duff, G.W. and Kornman, K.S. (2000) Interleukin-1 genetic association with periodontitis in clinical practice. J Periodontol,71, 156-63.
  11. Engebretson, S.P., Lamster, I.B., Herrera-Abreu, M., Celenti, R.S., Timms, J.M., Chaudhary, A.G., di Giovine, F.S. and Kornman, K.S. (1999) The influence of interleukin gene polymorphism on expression of interleukin-1beta and tumor necrosis factor-alpha in periodontal tissue and gingival crevicular fluid. J Periodontol, 70, 567-73.
  12. Kornman, K.S. and di Giovine, F.S. (1998) Genetic variations in cytokine expression: a risk factor for severity of adult periodontitis. Ann Periodontol, 3, 327-38.
  13. Kornman, K.S., Pankow, J., Offenbacher, S., Beck, J., di Giovine, F. and Duff, G.W. (1999) Interleukin-1 genotypes and the association between periodontitis and cardiovascular disease. J Periodontal Res, 34, 353-7.
  14. Salvi, G.E., Lawrence, H.P., Offenbacher, S. and Beck, J.D. (1997) Influence of risk factors on the pathogenesis of periodontitis. Periodontol 2000, 14, 173-201.
  15. Kornman, K.S., Crane, A., Wang, H.Y., di Giovine, F.S., Newman, M.G., Pirk, F.W., Wilson, T.G., Jr., Higginbottom, F.L. and Duff, G.W. (1997) The interleukin-1 genotype as a severity factor in adult periodontal disease. J Clin Periodontol, 24, 72-7.

IL1 genetic variations increase risk for Cardiovascular Disease

  1. Latella MC, de Gaetano M, Di Castelnuovo A, Napoleone E, Lorenzet R, Gattone M, Giannuzzi P, Rogus J, Huttner K, Donati MB, Iacoviello L. (2009) Interleukin 1 gene cluster, myocardial infarction at young age and inflammatory response of human mononuclear cells. Immunol Invest.;38(3-4):203-19.
  2. Friedewald VE, Kornman KS, Beck JD, Genco R, Goldfine A, Libby P, Offenbacher S, Ridker PM, Van Dyke TE, Roberts WC. (2009)The American Journal of Cardiology and Journal of Periodontology editors’ consensus: periodontitis and atherosclerotic cardiovascular disease. American Journal of Cardiology; Journal of Periodontology. J Periodontol. Jul;80(7):1021-32.
  3. Berger, P., McConnell, J.P., Nunn, M., Kornman, K.S., Sorrell, J., Stephenson, K. and Duff, G.W. (2002) C-reactive protein levels are influenced by common IL-1 gene variations. Cytokine, 17, 171-4.
  4. Nicklin, M.J., Hughes, D.E., Barton, J.L., Ure, J.M. and Duff, G.W. (2000) Arterial inflammation in mice lacking the interleukin 1 receptor antagonist gene. J Exp Med, 191, 303-12.

IL1 genetic variations increase risk for Osteoarthritis

  1. Wu X, Kondragunta V, Kornman KS, Wang HY, Duff GW, Renner JB, Jordan JM. (2013) IL-1 receptor antagonist gene as a predictive biomarker of progression of knee osteoarthritis in a population cohort. Osteoarthritis Cartilage. Apr 18
  2. Attur M, Wang HY, Kraus VB, Bukowski JF, Aziz N, Krasnokutsky S, Samuels J, Greenberg J, McDaniel G, Abramson SB, Kornman KS. (2010) Radiographic severity of knee osteoarthritis is conditional on interleukin I receptor antagonist gene variations. Ann Rheum Dis. May;69(5):856-61.
  3. Francis, S.E., Camp, N.J., Dewberry, R.M., Gunn, J., Syrris, P., Carter, N.D., Jeffery, S., Kaski, J.C., Cumberland, D.C., Duff, G.W. et al. (1999) Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease. Circulation, 99, 861-6.
  4. Berger, P.B., Nunn, M., Stephenson, K., Duff, G.W., Klee, G.G. and McConnell, J.P. (2001) Association between c-reactive protein and polymorphisms in the Interleukin-1 gene cluster and coronary artery disease on angiography. J Amer Coll Cardio, 37, Supplement 2, A286.

IL1 genetic variations increase risk for Osteoporosis

  1. Stone, K.L., van Dijk, S., Tabor, H.K., Lui, L.L., Kahn, A.J., Cauley, J.A., Ensrud, K.E., Harris, E.L., Zmuda, J.M., Sorrell, J.A. et al. (1999) Association between genotypes in the IL-1 gene cluster and osteoporotic fracture risk in elderly women. J Bone Miner Res, 14, S142.Friedewald VE, Kornman KS, Beck JD, Genco R, Goldfine A, Libby P, Offenbacher S, Ridker PM, Van Dyke TE, Roberts WC. (2009)The American Journal of Cardiology and Journal of Periodontology editors’ consensus: periodontitis and atherosclerotic cardiovascular disease. American Journal of Cardiology; Journal of Periodontology. J Periodontol. Jul;80(7):1021-32.
  2. Stone, K.L., van Dijk, S., Tabor, H., Cauley, J., Ensrud, K., Harris, E., Zmuda, J., Hochberg, M., Sorrell, J.A., Duff, G.W. et al. (1999) Polymorphisms in the IL-1 gene cluster and risk of osteoporotic fractures in elderly women. Am J Hum Genet, 65, A399.
  3. Eastell, R., Hannon, R.A., Blakemore, A.I., Russell, R.G.G. and Duff, G.W. (1998) IL-1 receptor antagonist genotype is associated with low bone mineral density in postmenopausal women. Bone, 23, S375.
  4. Eastell, R., Hannon, R.A., Blakemore, A.I.F., Russell, R.G.G. and Duff, G.W. (1998) IL-receptor antagonist as a predictor of bone loss in postmenopausal women. Bone, 23, S375.
  5. Herren, L.T., van Dijk, S., Wang, H.Y. and Kornman, K.S. (1998) IL_1 receptor antagonist as a potential new therapeutic agent for osteoporosis:  a computer simulation model of bone remodeling and osteoporosis.Bone, 23, S620.

Perilipin gene variations are associated with body weight and weight loss from dieting

  1. Nguyen B, Kornman KS, Baur LA. (2011) A review of electronic interventions for prevention and treatment of overweight and obesity in young people. Obes Rev. May;12(5):e298-314.
  2. Kornman K. (2010) An interview with Dr. Kenneth Kornman. Interview by David W Richards. J Calif Dent Assoc. Apr;38(4):259-62.Kornman KS, Shrewsbury VA, Chou AC, Nguyen B, Lee A, O’Connor J, Steinbeck KS, Hill AJ, Kohn MR, Shah S, Baur LA. (2010) Electronic therapeutic contact for adolescent weight management: the Loozit study. Telemed J E Health. Jul-Aug;16(6):678-85.
  3. Qi, L., Corella, D., Sorli, J.V., Portoles, O., Shen, H., Coltell, O., Godoy, D., Greenberg, A.S. and Ordovas, J.M. (2004) Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women. Clin Genet, 66, 299-310.Kornman KS, Shrewsbury VA, Chou AC, Nguyen B, Lee A, O’Connor J, Steinbeck KS, Hill AJ, Kohn MR, Shah S, Baur LA. (2010) Electronic therapeutic contact for adolescent weight management: the Loozit study. Telemed J E Health. Jul-Aug;16(6):678-85.
  4. Corella, D., Qi, L., Sorli, J.V., Godoy, D., Portoles, O., Coltell, O., Greenberg, A.S. and Ordovas, J.M. (2005) Obese subjects carrying the 11482G>A polymorphism at the perilipin locus are resistant to weight loss after dietary energy restriction. J Clin Endocrinol Metab, 90, 5121-6.
  5. Qi, L., Shen, H., Larson, I., Schaefer, E.J., Greenberg, A.S., Tregouet, D.A., Corella, D. and Ordovas, J.M. (2004) Gender-specific association of a perilipin gene haplotype with obesity risk in a white population.Obes Res, 12, 1758-65.
  6. Qi, L., Tai, E.S., Tan, C.E., Shen, H., Chew, S.K., Greenberg, A.S., Corella, D. and Ordovas, J.M. (2005) Intragenic linkage disequilibrium structure of the human perilipin gene (PLIN) and haplotype association with increased obesity risk in a multiethnic Asian population. J Mol Med, 83, 448-56.

IL1 genetic variations increase risk for Asthma and Pulmonary Fibrosis

  1. Whyte, M., Hubbard, R., Meliconi, R., Whidborne, M., Eaton, V., Bingle, C., Timms, J., Duff, G., Facchini, A., Pacilli, A. et al. (2000) Increased risk of fibrosing alveolitis associated with interleukin-1 receptor antagonist and tumor necrosis factor-alpha gene polymorphisms. Am J Respir Crit Care Med, 162, 755-8.

IL1 genetic variations increase risk for complications of Diabetes

  1. Blakemore, A.I., Cox, A., Gonzalez, A.M., Maskil, J.K., Hughes, M.E., Wilson, R.M., Ward, J.D. and Duff, G.W. (1996) Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus. Hum Genet, 97, 369-74.

IL1 genetic variations increase risk for Restenosis

  1. Francis, S.E., Camp, N.J., Burton, A.J., Dewberry, R.M., Gunn, J., Stephens-Lloyd, A., Cumberland, D.C., Gershlick, A. and Crossman, D.C. (2001) Interleukin 1 receptor antagonist gene polymorphism and restenosis after coronary angioplasty. Heart, 86, 336-40.
  2. Kastrati, A., Koch, W., Berger, P.B., Mehilli, J., Stephenson, K., Neumann, F.J., von Beckerath, N., Bottiger, C., Duff, G.W. and Schomig, A. (2000) Protective role against restenosis from an interleukin-1 receptor antagonist gene polymorphism in patients treated with coronary stenting. J Am Coll Cardiol, 36, 2168-73.

IL1 genetic variations increase risk for Sepsis

  1. Read, R.C., Camp, N.J., di Giovine, F.S., Borrow, R., Kaczmarski, E.B., Chaudhary, A.G., Fox, A.J. and Duff, G.W. (2000) An interleukin-1 genotype is associated with fatal outcome of meningococcal disease. J Infect Dis, 182, 1557-60.

IL1 genetic variations are associated with muscle tissue response after exercise

  1. Dennis, R.A., Trappe, T.A., Simpson, P., Carroll, C., Huang, B.E., Nagarajan, R., Bearden, E., Gurley, C., Duff, G.W., Evans, W.J. et al. (2004) Interleukin-1 polymorphisms are associated with the inflammatory response in human muscle to acute resistance exercise. J Physiol, 560, 617-26.

Nutritional Genomics

  1. Randolph K, Kornman K. (2009) Award for Nutrition and Metabolism. A nutrigenetics proof-of-principle study: 12 years of molecular genetics meets 70 years of nutrition science. Nutrition. Mar;25(3):258-60.
  2. Kornman K, Rogus J, Roh-Schmidt H, Krempin D, Davies AJ, Grann K, Randolph RK. (2007) Interleukin-1 genotype-selective inhibition of inflammatory mediators by a botanical: a nutrigenetics proof of concept. Nutrition. Nov-Dec;23(11-12):844-52.
  3. Kornman, K.S. (2006) Interleukin-1 genetics, inflammatory mechanisms, and nutrigenetic opportunities to modulate diseases of aging. Am J of Clincal Nutrition, 83 (suppl): 475S-483S.
  4. Kaput, J., Ordovas, J.M., Ferguson, L., van Ommen, B., Rodriguez, R.L., Allen, L., Ames, B.N., Dawson, K., German, B., Krauss, R. et al. (2005) The case for strategic international alliances to harness nutritional genomics for public and personal health. Br J Nutr, 94, 623-32.
  5. Kornman, K.S., Martha, P.M. and Duff, G.W. (2004) Genetic variations and inflammation: a practical nutrigenomics opportunity. Nutrition, 20, 44-9.

Practical applications of genetic testing, confidentiality and privacy

  1. Reilly, P. (2004) Is it in your genes? : the influence of genes on common disorders and diseases that affect you and your family. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y.
  2. Reilly, P. (2000) Abraham Lincoln’s DNA and other adventures in genetics. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
  3. Dhanda, R.K. (2002) Guiding Icarus : merging bioethics with corporate interests. John Wiley & Sons, New York.
  4. Wertz, D.C., Fanos, J.H. and Reilly, P.R. (1994) Testing healthy children and adolescents: recommendations for avoiding harm. Genetic Resour, 8, 16-20.
  5. Reilly, P.R. (2000) Public concern about genetics. Annu Rev Genomics Hum Genet, 1, 485-506.
  6. Reilly, P.R. (1993) Public policy and legal issues raised by advances in genetic screening and testing.Suffolk Univ Law Rev, 27, 1327-57.
  7. Reilly, P.R. (1991) Carrier screening for cystic fibrosis: a commentary on current legal and social policy issues. Genetic Resour, 6, 65-6.
  8. Reilly, P.R. (1998) Introduction: reading the human genome: Gothic tale or happy ending? J Law Med Ethics, 26, 181-3.
  9. Reilly, P.R. (2001) The Human Genome Project. Recent genetic advances will have far-reaching implications for Catholic health care. Health Prog, 82, 24-7.
  10. Reilly, P.R. (2001) Legal issues in genomic medicine. Nat Med, 7, 268-71.
  11. Reilly, P.R. (2000) Ethical and legal issues in genetic testing to predict risk of heart disease. Am Heart J,140, S6-10.
  12. Reilly, P.R. (1999) Efforts to regulate the collection and use of genetic information. Arch Pathol Lab Med,123, 1066-70.

Genetics and other risk factors for complex diseases

  1. Krolewski, A.S., Poznik, G.D., Placha, G., Canani, L., Dunn, J., Walker, W., Smiles, A., Krolewski, B., Fogarty, D.G., Moczulski, D. et al. (2006) A genome-wide linkage scan for genes controlling variation in urinary albumin excretion in type II diabetes. Kidney Int, 69, 129-36.
  2. Poznik, G.D., Adamska, K., Xu, X., Krolewski, A.S. and Rogus, J.J. (2006) A novel framework for sib pair linkage analysis. Am J Hum Genet, 78, 222-30.
  3. Dahia, P.L., Hao, K., Rogus, J., Colin, C., Pujana, M.A., Ross, K., Magoffin, D., Aronin, N., Cascon, A., Hayashida, C.Y. et al. (2005) Novel pheochromocytoma susceptibility loci identified by integrative genomics.Cancer Res, 65, 9651-8.
  4. Ohmura, K., Johnsen, A., Ortiz-Lopez, A., Desany, P., Roy, M., Besse, W., Rogus, J., Bogue, M., Puech, A., Lathrop, M. et al. (2005) Variation in IL-1beta gene expression is a major determinant of genetic differences in arthritis aggressivity in mice. Proc Natl Acad Sci U S A, 102, 12489-94.
  5. Araki, S., Ng, D.P., Krolewski, B., Wyrwicz, L., Rogus, J.J., Canani, L., Makita, Y., Haneda, M., Warram, J.H. and Krolewski, A.S. (2003) Identification of a common risk haplotype for diabetic nephropathy at the protein kinase C-beta1 (PRKCB1) gene locus. J Am Soc Nephrol, 14, 2015-24.
  6. Rogus, J.J., Warram, J.H. and Krolewski, A.S. (2002) Genetic studies of late diabetic complications: the overlooked importance of diabetes duration before complication onset. Diabetes, 51, 1655-62.
  7. Canani, L.H., Ng, D.P., Smiles, A., Rogus, J.J., Warram, J.H. and Krolewski, A.S. (2002) Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes. Diabetes, 51, 1188-93.
  8. Antonellis, A., Rogus, J.J., Canani, L.H., Makita, Y., Pezzolesi, M.G., Nam, M., Ng, D., Moczulski, D., Warram, J.H. and Krolewski, A.S. (2002) A method for developing high-density SNP maps and its application at the type 1 angiotensin II receptor (AGTR1) locus. Genomics, 79, 326-32.
  9. Scott, L. and Rogus, J.J. (2000) Using unaffected child trios to test for transmission distortion. Genet Epidemiol, 19, 381-94.
  10. Moczulski, D.K., Scott, L., Antonellis, A., Rogus, J.J., Rich, S.S., Warram, J.H. and Krolewski, A.S. (2000) Aldose reductase gene polymorphisms and susceptibility to diabetic nephropathy in Type 1 diabetes mellitus. Diabet Med, 17, 111-8.
  11. Rogus, J.J., Cai, T. and Wei, L.J. (1999) Issues in genomic screening: critical values, sample sizes, and the ability to detect linkage. Genet Epidemiol, 17 Suppl 1, S697-701.
  12. Niu, T., Rogus, J.J., Chen, C., Wang, B., Yang, J., Fang, Z., Weiss, S.T. and Xu, X. (2000) Familial aggregation of bronchodilator response: a community-based study. Am J Respir Crit Care Med, 162, 1833-7.
  13. Xu, X., Yang, J., Rogus, J., Chen, C. and Schork, N. (1999) Mapping of a blood pressure quantitative trait locus to chromosome 15q in a Chinese population. Hum Mol Genet, 8, 2551-5.
  14. Niu, T., Xu, X., Cordell, H.J., Rogus, J., Zhou, Y., Fang, Z. and Lindpaintner, K. (1999) Linkage analysis of candidate genes and gene-gene interactions in chinese hypertensive sib pairs. Hypertension, 33, 1332-7.
  15. Xu, X., Rogus, J.J., Terwedow, H.A., Yang, J., Wang, Z., Chen, C., Niu, T., Wang, B., Xu, H., Weiss, al. (1999) An extreme-sib-pair genome scan for genes regulating blood pressure. Am J Hum Genet, 64,1694-701.
  16. Niu, T., Yang, J., Wang, B., Chen, W., Wang, Z., Laird, N., Wei, E., Fang, Z., Lindpaintner, K., Rogus, J.J. et al. (1999) Angiotensinogen gene polymorphisms M235T/T174M: no excess transmission to hypertensive Chinese. Hypertension, 33, 698-702.
  17. Lunetta, K.L. and Rogus, J.J. (1998) Strategy for mapping minor histocompatibility genes involved in graft-versus-host disease: a novel application of discordant sib pair methodology. Genet Epidemiol, 15, 595-607.