Integrative genomics identifies 7p11.2 as a novel locus for fever and clinical stress response in humans

Human Molecular Genetics

Volumn 24, Issue 6, 2015, Pages 1801-1812

  Ferguson, Jane F ^a,b   Meyer, Nuala J ^a   Qu, Liming ^a   Xue, Chenyi ^a   Liu, Yichuan ^a   DerOhannessian, Stephanie L ^a   Rushefski, Melanie ^a   Paschos, Georgios K ^a   Tang, Soonyew ^a   Schadt, Eric E ^c   Li, Mingyao ^a   Christie, Jason D ^a   Reilly, Muredach P ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b VANDERBILT UNIVERSITY   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; INTERLEUKIN 6; LIPOPOLYSACCHARIDE; TUMOR NECROSIS FACTOR ALPHA;

ADULT; ANIMAL EXPERIMENT; ARTICLE; CHROMOSOME 7P; CHROMOSOME 7P11.2; COHORT ANALYSIS; COLD EXPOSURE; COLD STRESS; CONTROLLED STUDY; CRITICALLY ILL PATIENT; EXPERIMENTAL ENDOTOXEMIA; FEMALE; FEVER; GENE CLUSTER; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENOMICS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; QUALITY CONTROL; QUANTITATIVE TRAIT LOCUS; SEPSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STRESS; STROMA CELL; THERMOGENESIS; THERMOREGULATION; UPREGULATION; ADOLESCENT; AGED; ANIMAL; CAUCASIAN; CHEMICALLY INDUCED; CHROMOSOME 7; DRUG EFFECTS; GENETICS; INJURY; MIDDLE AGED; PHYSIOLOGICAL STRESS; REGULATORY SEQUENCE; YOUNG ADULT;

MUS;

ADOLESCENT; ADULT; AGED; ANIMALS; CHROMOSOMES, HUMAN, PAIR 7; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FEVER; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LIPOPOLYSACCHARIDES; MALE; MICE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; REGULATORY ELEMENTS, TRANSCRIPTIONAL; SEPSIS; STRESS, PHYSIOLOGICAL; WOUNDS AND INJURIES; YOUNG ADULT;

EID: 84936065220     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu589     Document Type: Article

References (46)

1. Mizushima, Y., Ueno, M., Idoguchi, K., Ishikawa, K. and Matsuoka, T. (2009) Fever in trauma patients: friend or foe?. J. Trauma., 67, 1062-1065.
2. Schortgen, F. (2012) Fever in sepsis. Minerva Anestesiol., 78, 1254-1264.
3. Nallamothu, B.K., Payvar, S., Wang, Y., Kosiborod, M., Masoudi, F.A., Havranek, E.P., Foody, J.M., Casscells, S.W. and Krumholz, H.M. (2006) Admission body temperature and mortality in elderly patients hospitalized for heart failure. J. Am. Coll. Cardiol., 47, 2563-2564.
4. Guinea, G.V., Atienza, J.M., Fantidis, P., Rojo, F.J., Ortega, A., Torres, M., Gonzalez, P., Elices, M.L., Hayashi, K. and Elices, M. (2008) Increases of corporal temperature as a risk factor of atherosclerotic plaque instability. Ann. Biomed. Eng., 36, 66-76.
5. Hasday, J.D. and Singh, I.S. (2000) Fever and the heat shock response: distinct, partially overlapping processes. Cell Stress Chaperones, 5, 471-480.
6. Aksentijevich, I. and Kastner, D.L. (2011) Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat. Rev. Rheumatol., 7, 469-478.
7. Li, S., Ballou, L.R., Morham, S.G. and Blatteis, C.M. (2001) Cyclooxygenase-2 mediates the febrile response of mice to interleukin-1beta. Brain Res., 910, 163-173.
8. Blatteis, C.M., Li, S., Li, Z., Feleder, C. and Perlik, V. (2005) Cytokines, PGE2 and endotoxic fever: a re-assessment. Prostaglandins Other Lipid. Mediat., 76, 1-18.
9. Solinas, G. (2012) Molecular pathways linking metabolic inflammation and thermogenesis. Obes. Rev., 13(Suppl 2), 69-82.
10. Suffredini, A.F., Fromm, R.E., Parker, M.M., Brenner, M., Kovacs, J.A., Wesley, R.A. and Parrillo, J.E. (1989) The cardiovascular response of normal humans to the administration of endotoxin. N. Engl. J. Med., 321, 280-287.
11. Ferguson, J.F., Patel, P.N., Shah, R.Y., Mulvey, C.K., Gadi, R., Nijjar, P.S., Usman, H.M., Mehta, N.N., Shah, R., Master, S.R. et al. (2013) Race and gender variation in response to evoked inflammation. J. Transl. Med., 11, 63.
12. Martich, G.D., Boujoukos, A.J. and Suffredini, A.F. (1993) Response of man to endotoxin. Immunobiology, 187, 403-416.
13. Purcell, S., Cherny, S.S. and Sham, P.C. (2003) Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics, 19, 149-150.
14. He, J., Li, H., Edmondson, A.C., Rader, D.J. and Li, M. (2012) A Gaussian copula approach for the analysis of secondary phenotypes in case-control genetic association studies. Biostatistics, 13, 497-508.
15. Yang, T.P., Beazley, C., Montgomery, S.B., Dimas, A.S., Gutierrez-Arcelus, M., Stranger, B.E., Deloukas, P. and Dermitzakis, E.T. (2010) Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics (Oxford, England), 26, 2474-2476.
16. Zeller, T., Wild, P., Szymczak, S., Rotival, M., Schillert, A., Castagne, R., Maouche, S., Germain, M., Lackner, K., Rossmann, H. et al. (2010) Genetics and beyond-the transcriptome of human monocytes and disease susceptibility. PLoS One, 5, e10693.
17. Greenawalt, D.M., Dobrin, R., Chudin, E., Hatoum, I.J., Suver, C., Beaulaurier, J., Zhang, B., Castro, V., Zhu, J., Sieberts, S.K. et al. (2011) A survey of the genetics of stomach, liver, and adipose gene expression from a morbidly obese cohort. Genome Res., 21, 1008-1016.
18. Schadt, E.E., Molony, C., Chudin, E., Hao, K., Yang, X., Lum, P. Y., Kasarskis, A., Zhang, B., Wang, S., Suver, C. et al. (2008) Mapping the genetic architecture of gene expression in human liver. PLoS Biol., 6, e107.
19. Consortium, G.T. (2013) The genotype-tissue expression (GTEx) project. Nat. Genet., 45, 580-585.
20. Lehrke, M., Reilly, M.P., Millington, S.C., Iqbal, N., Rader, D.J. and Lazar, M.A. (2004) An inflammatory cascade leading to hyperresistinemia in humans. PLoS Med., 1, e45.
21. Ye, L., Wu, J., Cohen, P., Kazak, L., Khandekar, M.J., Jedrychowski, M.P., Zeng, X., Gygi, S.P. and Spiegelman, B.M. (2013) Fat cells directly sense temperature to activate thermogenesis. Proc. Natl. Acad. Sci. USA, 110, 12480-12485.
22. Franco, L.M., Bucasas, K.L., Wells, J.M., Nino, D., Wang, X., Zapata, G.E., Arden, N., Renwick, A., Yu, P., Quarles, J.M. et al. (2013) Integrative genomic analysis of the human immune response to influenza vaccination. Elife, 2, e00299.
23. Chen, R., Mias, G.I., Li-Pook-Than, J., Jiang, L., Lam, H.Y., Miriami, E., Karczewski, K.J., Hariharan, M., Dewey, F.E., Cheng, Y. et al. (2012) Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell, 148, 1293-1307.
24. Lazarus, M., Yoshida, K., Coppari, R., Bass, C.E., Mochizuki, T., Lowell, B.B. and Saper, C.B. (2007) EP3 prostaglandin receptors in the median preoptic nucleus are critical for fever responses. Nat. Neurosci., 10, 1131-1133.
25. Ek, M., Engblom, D., Saha, S., Blomqvist, A., Jakobsson, P.J. and Ericsson-Dahlstrand, A. (2001) Inflammatory response: pathway across the blood-brain barrier. Nature, 410, 430-431.
26. Morrison, S.F. and Nakamura, K. (2011) Central neural pathways for thermoregulation. Front. Biosci., 16, 74-104.
27. Naito, K., Anzai, T., Yoshikawa, T., Maekawa, Y., Sugano, Y., Kohno, T., Mahara, K., Okabe, T., Asakura, Y. and Ogawa, S. (2007) Increased body temperature after reperfused acute myocardial infarction is associated with adverse left ventricular remodeling. J. Card. Fail., 13, 25-33.
28. Ulitsky, I. and Bartel, D.P. (2013) lincRNAs: genomics, evolution, and mechanisms. Cell, 154, 26-46.
29. Sun, L., Goff, L.A., Trapnell, C., Alexander, R., Lo, K.A., Hacisuleyman, E., Sauvageau, M., Tazon-Vega, B., Kelley, D.R., Hendrickson, D.G. et al. (2013) Long noncoding RNAs regulate adipogenesis. Proc. Natl. Acad. Sci. USA, 110, 3387-3392.
30. Lee, J.M. and Sonnhammer, E.L. (2003) Genomic gene clustering analysis of pathways in eukaryotes. Genome Res., 13, 875-882.
31. Jaeken, J., Detheux, M., Fryns, J.P., Collet, J.F., Alliet, P. and Van Schaftingen, E. (1997) Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J. Med. Genet., 34, 594-596.
32. Tabatabaie, L., Klomp, L.W., Berger, R. and de Koning, T.J. (2010) L-serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol. Genet. Metab., 99, 256-262.
33. Glyn, J.R. and Lipton, J.M. (1980) Central administration of serine causes hypothermia and inhibits fever in rabbits. Brain Res. Bull., 5, 653-660.
34. Liang, H., Li, Z., Xue, L., Jiang, X. and Liu, F. (2009) SUMF2 interacts with interleukin-13 and inhibits interleukin-13 secretion in bronchial smooth muscle cells. J. Cell Biochem., 108, 1076-1083.
35. Yakubenko, V.P., Hsi, L.C., Cathcart, M.K. and Bhattacharjee, A. (2013) From macrophage interleukin-13 receptor to foam cell formation: mechanisms for alphaMbeta2 integrin interference. J. Biol. Chem., 288, 2778-2788.
36. Mittag, J., Lyons, D.J., Sallstrom, J., Vujovic, M., Dudazy-Gralla, S., Warner, A., Wallis, K., Alkemade, A., Nordstrom, K., Monyer, H. et al. (2013) Thyroid hormone is required for hypothalamic neurons regulating cardiovascular functions. J. Clin. Invest., 123, 509-516.
37. Anderson, P.D., Mehta, N.N., Wolfe, M.L., Hinkle, C.C., Pruscino, L., Comiskey, L.L., Tabita-Martinez, J., Sellers, K.F., Rickels, M.R., Ahima, R.S. et al. (2007) Innateimmunity modulates adipokines in humans. J. Clin. Endocrinol. Metab., 92, 2272-2279.
38. Ferguson, J.F., Mulvey, C.K., Patel, P.N., Shah, R.Y., Doveikis, J., Zhang, W., Tabita-Martinez, J., Terembula, K., Eiden, M., Koulman, A. et al. (2014) Omega-3 PUFA supplementation and the response to evoked endotoxemia in healthy volunteers. Mol. Nutr. Food Res., 58, 601-613.
39. Mehta, N.N., McGillicuddy, F.C., Anderson, P.D., Hinkle, C.C., Shah, R., Pruscino, L., Tabita-Martinez, J., Sellers, K.F., Rickels, M.R. and Reilly, M.P. (2010) Experimental endotoxemia induces adipose inflammation and insulin resistance in humans. Diabetes, 59, 172-181.
40. Shah, C.V., Lanken, P.N., Localio, A.R., Gallop, R., Bellamy, S., Ma, S.F., Flores, C., Kahn, J.M., Finkel, B., Fuchs, B.D. et al. (2010) An alternative method of acute lung injury classification for use in observational studies. Chest, 138, 1054-1061.
41. Shah, C.V., Localio, A.R., Lanken, P.N., Kahn, J.M., Bellamy, S., Gallop, R., Finkel, B., Gracias, V.H., Fuchs, B.D. and Christie, J. D. (2008) The impact of development of acute lung injury on hospital mortality in critically ill trauma patients. Crit. Care Med., 36, 2309-2315.
42. Reilly, M.P., Li, M., He, J., Ferguson, J.F., Stylianou, I.M., Mehta, N.N., Burnett, M.S., Devaney, J.M., Knouff, C.W., Thompson, J. R. et al. (2011) Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. Lancet, 377, 383-392.
43. Li, Y., Willer, C., Sanna, S. and Abecasis, G. (2009) Genotype imputation. Annu. Rev. Genomics Hum. Genet., 10, 387-406.
44. Li, Y., Willer, C.J., Ding, J., Scheet, P. and Abecasis, G.R. (2010) MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol., 34, 816-834.
45. Pruim, R.J., Welch, R.P., Sanna, S., Teslovich, T.M., Chines, P.S., Gliedt, T.P., Boehnke, M., Abecasis, G.R. andWiller, C.J. (2010) LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics, 26, 2336-2337.
46. Trapnell, C., Williams, B.A., Pertea, G., Mortazavi, A., Kwan, G., van Baren, M.J., Salzberg, S.L., Wold, B.J. and Pachter, L. (2010) Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation. Nat. Biotechnol., 28, 511-515.