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Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review

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Abstract

Cancer cachexia is a polygenic and complex syndrome. Genetic variations in regulation of the inflammatory response, muscle and fat metabolic pathways, and pathways in appetite regulation are likely to contribute to the susceptibility or resistance to developing cancer cachexia. A systematic search of Medline and EmBase databases, covering 1986–2008 was performed for potential candidate genes/genetic polymorphisms relating to cancer cachexia. Related genes were then identified using pathway functional analysis software. All candidate genes were reviewed for functional polymorphisms or clinically significant polymorphisms associated with cachexia using the OMIM and GeneRIF databases. Genes with variants which had functional or clinical associations with cachexia and replicated in at least one study were entered into pathway analysis software to reveal possible network associations between genes. A total of 184 polymorphisms with functional or clinical relevance to cancer cachexia were identified in 92 candidate genes. Of these, 42 polymorphisms (in 33 genes) were replicated in more than one study with 13 polymorphisms found to influence two or more hallmarks of cachexia (i.e. inflammation, loss of fat mass and/or lean mass and reduced survival). Thirty-three genes were found to be significantly interconnected in two major networks with four genes (ADIPOQ, IL6, NFKB1 and TLR4) interlinking both networks. Selection of candidate genes and polymorphisms is a key element of multigene study design. The present study provides an initial framework to select genes/ polymorphisms for further study in cancer cachexia, and to develop their potential as susceptibility biomarkers of developing cachexia.

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References

  • Ak K., Isbir, S., Tekeli A., Ergen A., Atalan N., Dogan S. et al. 2007 Presence of lipoprotein lipase S447X stop codon affects the magnitude of interleukin 8 release after cardiac surgery with cardiopulmonary bypass. J. Thorac. Cardiovasc. Surg. 134, 477–483.

    Article  PubMed  CAS  Google Scholar 

  • Alexiou D., Karayiannakis A. J., Syrigos K. N., Zbar A., Kremmyda A., Bramis I. et al. 2001 Serum levels of E-selectin, ICAM-1 and VCAM-1 in colorectal cancer patients: correlations with clinicopathological features, patient survival and tumour surgery. Eur. J. Cancer 37, 2392–2397.

    Article  PubMed  CAS  Google Scholar 

  • Alexiou D., Karayiannakis A. J., Syrigos K. N., Zbar A., Sekara E., Michail P. et al. 2003 Clinical significance of serum levels of E-selectin, intercellular adhesion molecule-1, and vascular cell adhesion molecule-1 in gastric cancer patients. Am. J. Gastroenterol. 98, 478–485.

    Article  PubMed  CAS  Google Scholar 

  • Argiles J. M., Busquets S. and Lopez-Soriano F. J. 2003 Cytokines in the pathogenesis of cancer cachexia. Curr. Opin. Clin. Nutr. Metab. Care 6, 401–406.

    PubMed  CAS  Google Scholar 

  • Awomoyi A. A., Charurat M., Marchant A., Miller E. N., Blackwell J. M., McAdam K. P. et al. 2005. Polymorphism in IL1B: IL1B-511 association with tuberculosis and decreased lipopolysaccharide-induced IL-1beta in IFN-gamma primed ex-vivo whole blood assay. J. Endotoxin Res. 11, 281–286.

    PubMed  CAS  Google Scholar 

  • Barber M. D., Powell J. J., Lynch S. F., Fearon K. C. and Ross J. A. 2000 A polymorphism of the interleukin-1 beta gene influences survival in pancreatic cancer. Br. J. Cancer 83, 1443–1447.

    Article  PubMed  CAS  Google Scholar 

  • Berthier M. T., Paradis A. M., Tchernof A., Bergeron J., Prud’homme D., Despres J. P. et al. 2003 The interleukin 6–174G/C polymorphism is associated with indices of obesity in men. J. Hum. Genet. 48, 14–19.

    Article  PubMed  CAS  Google Scholar 

  • Berthier M. T., Houde A., Cote M., Paradis A. M., Mauriege P., Bergeron J. et al. 2005 Impact of adiponectin gene polymorphisms on plasma lipoprotein and adiponectin concentrations of viscerally obese men. J. Lipid Res. 46, 237–244.

    Article  PubMed  CAS  Google Scholar 

  • Brink M., Wellen J. and Delafontaine P. 1996. Angiotensin II causes weight loss and decreases circulating insulin-like growth factor I in rats through a pressor-independent mechanism. J. Clin. Invest. 97, 2509–2516.

    Article  PubMed  CAS  Google Scholar 

  • Brink M., Price S. R., Chrast J., Bailey J. L., Anwar A., Mitch W. E. et al. 2001 Angiotensin II induces skeletal muscle wasting through enhanced protein degradation and down-regulates autocrine insulin-like growth factor I. Endocrinology 142, 1489–1496.

    Article  PubMed  CAS  Google Scholar 

  • Brookes A. J. 1999 The essence of SNPs. Gene 234, 177–186.

    Article  PubMed  CAS  Google Scholar 

  • Chmurzynska A. 2006 The multigene family of fatty acid-binding proteins (FABPs): function, structure and polymorphism. J. Appl. Genet. 47, 39–48.

    Article  PubMed  Google Scholar 

  • Cho Y. M., Youn B. S., Chung S. S., Kim K. W., Lee H. K., Yu K. Y. et al. 2004. Common genetic polymorphisms in the promoter of resistin gene are major determinants of plasma resistin concentrations in humans. Diabetologia 47, 559–565.

    PubMed  CAS  Google Scholar 

  • Day C. P., Grove J., Daly A. K., Stewart M. W., Avery P. J. and Walker M. 1998 Tumour necrosis factor-alpha gene promoter polymorphism and decreased insulin resistance. Diabetologia 41, 430–434.

    Article  PubMed  CAS  Google Scholar 

  • Deans D. A., Tan B. H., Ross J. A., Rose-Zerilli M., Wigmore S. J., Howell W. M. et al. 2009 Cancer cachexia is associated with the IL10 -1082 gene promoter polymorphism in patients with gastroesophageal malignancy. Am. J. Clin. Nutr. 89, 1164–1172.

    Article  PubMed  CAS  Google Scholar 

  • Degawa-Yamauchi M., Bovenkerk J. E., Juliar B. E., Watson W., Kerr K., Jones R. et al. 2003 Serum resistin (FIZZ3) protein is increased in obese humans. J. Clin. Endocrinol. Metab. 88, 5452–5455.

    Article  PubMed  CAS  Google Scholar 

  • DeWys W. D. and Walters K. 1975 Abnormalities of taste sensation in cancer patients. Cancer 36, 1888–1896.

    Article  PubMed  CAS  Google Scholar 

  • Dewys W. D., Begg C., Lavin P. T., Band P. R., Bennett J. M., Bertino J. R. et al. 1980 Prognostic effect of weight loss prior to chemotherapy in cancer patients. Eastern cooperative oncology group. Am. J. Med. 69, 491–497.

    Article  PubMed  CAS  Google Scholar 

  • Diez J. J. and Iglesias P. 2003 The role of the novel adipocyte-derived hormone adiponectin in human disease. Eur. J. Endocrinol. 148, 293–300.

    Article  PubMed  CAS  Google Scholar 

  • Diffee G. M., Kalfas K., Al-Majid S. and McCarthy D. O. 2002 Altered expression of skeletal muscle myosin isoforms in cancer cachexia. Am. J. Physiol. Cell Physiol. 283, C1376–C1382.

    Google Scholar 

  • Eley H. L. and Tisdale M. J. 2007 Skeletal muscle atrophy, a link between depression of protein synthesis and increase in degradation. J. Biol. Chem. 282, 7087–7097.

    Article  PubMed  CAS  Google Scholar 

  • El-Hazmi M. A. and Warsy A. S. 2003 Increased frequency of angiotensin-converting enzyme DD genotype in Saudi overweight and obese patients. Ann. Saudi Med. 23, 24–27.

    PubMed  Google Scholar 

  • Fan W., Boston B. A., Kesterson R. A., Hruby V. J. and Cone R. D. 1997 Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature 385, 165–168.

    Article  PubMed  CAS  Google Scholar 

  • Fantuzzi G. 2005 Adipose tissue, adipokines, and inflammation. J. Allergy Clin. Immunol. 115, 911–919.

    Article  PubMed  CAS  Google Scholar 

  • Fishman D., Faulds G., Jeffery R., Mohamed-Ali V., Yudkin J. S., Humphries S. et al. 1998 The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J. Clin. Invest. 102, 1369–1376.

    Article  PubMed  CAS  Google Scholar 

  • Folland J., Leach B., Little T., Hawker K., Myerson S., Montgomery H. et al. 2000 Angiotensin-converting enzyme genotype affects the response of human skeletal muscle to functional overload. Exp. Physiol. 85, 575–579.

    Article  PubMed  CAS  Google Scholar 

  • Fredrix E. W., Soeters P. B., Wouters E. F., Deerenberg I. M., von Meyenfeldt M. F. and Saris W. H. 1991 Effect of different tumor types on resting energy expenditure. Cancer Res. 51, 6138–6141.

    PubMed  CAS  Google Scholar 

  • Graziano F., Ruzzo A., Santini D., Humar B., Tonini G., Catalano V. et al. 2005 Prognostic role of interleukin-1beta gene and interleukin-1 receptor antagonist gene polymorphisms in patients with advanced gastric cancer. J. Clin. Oncol. 23, 2339–2345.

    Article  PubMed  CAS  Google Scholar 

  • Groenemeijer B. E., Hallman M. D., Reymer P. W., Gagne E., Kuivenhoven J. A., Bruin T. et al. 1997 Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS study group. Circulation 95, 2628–2635.

    PubMed  CAS  Google Scholar 

  • Hernandez-Guerrero C., Monzon-Bordonaba F., Jimenez-Zamudio L., Ahued-Ahued R., Arechavaleta-Velasco F., Strauss J. F. 3rd et al. 2003 In-vitro secretion of proinflammatory cytokines by human amniochorion carrying hyper-responsive gene polymorphisms of tumour necrosis factor-alpha and interleukin-1beta. Mol. Hum. Reprod. 9, 625–629.

    Article  PubMed  CAS  Google Scholar 

  • Hirschhorn J. N., Lohmueller K., Byrne E. and Hirschhorn K. 2002 A comprehensive review of genetic association studies. Genet. Med. 4, 45–61.

    Article  PubMed  CAS  Google Scholar 

  • Hoffstedt J., Eriksson P., Hellstrom L., Rossner S., Ryden M. and Arner P. 2000 Excessive fat accumulation is associated with the TNF alpha-308 G/A promoter polymorphism in women but not in men. Diabetologia 43, 117–120.

    Article  PubMed  CAS  Google Scholar 

  • Hosoda H., Kojima M. and Kangawa K. 2002 Ghrelin and the regulation of food intake and energy balance. Mol. Interv. 2, 494–503.

    Article  PubMed  CAS  Google Scholar 

  • Hotamisligil G. S., Arner P., Caro J. F., Atkinson R. L. and Spiegelman B. M. 1995 Increased adipose tissue expression of tumor necrosis factor-alpha in human obesity and insulin resistance. J. Clin. Invest. 95, 2409–2415.

    Article  PubMed  CAS  Google Scholar 

  • Huang A. Q., Hu Y. H., Zhan S. Y., Xu B., Pang Z. C., Cao W. H. et al. 2006 Lipoprotein lipase gene S447X polymorphism modulates the relation between central obesity and serum lipids, a twin study. Int. J. Obes. 30, 1693–1701.

    Article  CAS  Google Scholar 

  • Ihle J. N. 1995 Cytokine receptor signalling. Nature 377, 591–594.

    Article  PubMed  CAS  Google Scholar 

  • Jerome L., Shiry L. and Leyland-Jones B. 2003 Deregulation of the IGF axis in cancer: epidemiological evidence and potential therapeutic interventions. Endocr. Relat. Cancer 10, 561–578.

    Article  PubMed  CAS  Google Scholar 

  • Jones J. I. and Clemmons D. R. 1995 Insulin-like growth factors and their binding proteins: biological actions. Endocr. Rev. 16, 3–34.

    PubMed  CAS  Google Scholar 

  • Kaluza W., Reuss E., Grossmann S., Hug R., Schopf R. E., Galle P. R. et al. 2000 Different transcriptional activity and in vitro TNF-alpha production in psoriasis patients carrying the TNF-alpha 238A promoter polymorphism. J. Invest. Dermatol. 114, 1180–1183.

    Article  PubMed  CAS  Google Scholar 

  • Kawai T. and Akira S. 2006 TLR signaling. Cell Death Differ. 13, 816–825.

    Article  PubMed  CAS  Google Scholar 

  • Kerem M., Ferahkose Z., Yilmaz U. T., Pasaoglu H., Ofluoglu E., Bedirli A. et al. 2008 Adipokines and ghrelin in gastric cancer cachexia. World J. Gastroenterol. 14, 3633–3641.

    Article  PubMed  CAS  Google Scholar 

  • Kirkham T. C. 2005 Endocannabinoids in the regulation of appetite and body weight. Behav. Pharmacol. 16, 297–313.

    Article  PubMed  CAS  Google Scholar 

  • Kishimoto T. 2005 Interleukin-6: from basic science to medicine-40 years in immunology. Annu. Rev. Immunol. 23, 1–21.

    Article  PubMed  CAS  Google Scholar 

  • Kozaki K., Gotoda T., Kawamura M., Shimano H., Yazaki Y., Ouchi Y. et al. 1993 Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation. J. Lipid Res. 34, 1765–1772.

    PubMed  CAS  Google Scholar 

  • Kusminski C. M., da Silva N. F., Creely S. J., Fisher F. M., Harte A. L., Baker A. R. et al. 2007 The in vitro effects of resistin on the innate immune signaling pathway in isolated human subcutaneous adipocytes. J. Clin. Endocrinol. Metab. 92, 270–276.

    Article  PubMed  CAS  Google Scholar 

  • Lambert P. D., Anderson K. D., Sleeman M. W., Wong V., Tan J., Hijarunguru A. et al. 2001 Ciliary neurotrophic factor activates leptin-like pathways and reduces body fat, without cachexia or rebound weight gain, even in leptin-resistant obesity. Proc. Natl. Acad. Sci. USA 98, 4652–4657.

    Article  PubMed  CAS  Google Scholar 

  • Landmann E., Geller F., Schilling J., Rudloff S., Foeller-Gaudier E. and Gortner L. 2006 Absence of the wild-type allele (192 base pairs) of a polymorphism in the promoter region of the IGF-I gene but not a polymorphism in the insulin gene variable number of tandem repeat locus is associated with accelerated weight gain in infancy. Pediatrics 118, 2374–2379.

    Article  PubMed  Google Scholar 

  • Large V., Peroni O., Letexier D., Ray H. and Beylot M. 2004 Metabolism of lipids in human white adipocyte. Diabetes Metab. 30, 294–309.

    Article  PubMed  CAS  Google Scholar 

  • Ledesma A., de Lacoba M. G. and Rial E. 2002 The mitochondrial uncoupling proteins. Genome Biol. 3, 3015.1–3015.9.

    Article  Google Scholar 

  • Legaspi A., Jeevanandam M., Starnes Jr H. F. and Brennan M. F. 1987 Whole body lipid and energy metabolism in the cancer patient. Metabolism 36, 958–963.

    Article  PubMed  CAS  Google Scholar 

  • Lehrke M. and Lazar M. A. 2005 The many faces of PPARgamma. Cell 123, 993–999.

    Article  PubMed  CAS  Google Scholar 

  • Lind H., Haugen A. and Zienolddiny S. 2007 Differential binding of proteins to the IL1B -31 T/C polymorphism in lung epithelial cells. Cytokine 38, 43–48.

    Article  PubMed  CAS  Google Scholar 

  • Loktionov A. 2003 Common gene polymorphisms and nutrition: emerging links with pathogenesis of multifactorial chronic diseases (review). J. Nutr. Biochem. 14, 426–451.

    Article  PubMed  CAS  Google Scholar 

  • Loos R. J., Ruchat S., Rankinen T., Tremblay A., Perusse L. and Bouchard C. 2007 Adiponectin and adiponectin receptor gene variants in relation to resting metabolic rate, respiratory quotient, and adiposity-related phenotypes in the Quebec Family Study. Am. J. Clin. Nutr. 85, 26–34.

    PubMed  CAS  Google Scholar 

  • Mackevics V., Heid I. M., Wagner S. A., Cip P., Doppelmayr H., Lejnieks A. et al. 2006 The adiponectin gene is associated with adiponectin levels but not with characteristics of the insulin resistance syndrome in healthy Caucasians. Eur. J. Hum. Genet. 14, 349–356.

    Article  PubMed  CAS  Google Scholar 

  • McArthur J. A., Zhang Q. and Quasney M. W. 2002 Association between the A/A genotype at the lymphotoxin-alpha + 250 site and increased mortality in children with positive blood cultures. Pediatr. Crit. Care Med. 3, 341–344.

    Article  PubMed  Google Scholar 

  • McEntegart M. B., Awede B., Petrie M. C., Sattar N., Dunn F. G., MacFarlane N. G. et al. 2007 Increase in serum adiponectin concentration in patients with heart failure and cachexia: relationship with leptin, other cytokines, and B-type natriuretic peptide. Eur. Heart J. 28, 829–835.

    Article  PubMed  CAS  Google Scholar 

  • McTernan P. G., Kusminski C. M. and Kumar S. 2006 Resistin. Curr. Opin. Lipidol. 17, 170–175.

    Article  PubMed  CAS  Google Scholar 

  • Mead J. R., Irvine S. A. and Ramji D. P. 2002 Lipoprotein lipase: structure, function, regulation, and role in disease. J. Mol. Med. 80, 753–769.

    Article  PubMed  CAS  Google Scholar 

  • Miller M. A., Kerry S. M., Dong Y., Strazzullo P. and Cappuccio F. P. 2004 Association between the Thr715Pro P-selectin gene polymorphism and soluble P-selectin levels in a multiethnic population in South London. Thromb. Haemost. 92, 1060–1065.

    PubMed  CAS  Google Scholar 

  • Morimoto L. M., Newcomb P. A., White E., Bigler J. and Potter J. D. 2005 Variation in plasma insulin-like growth factor-1 and insulin-like growth factor binding protein-3: genetic factors. Cancer Epidemiol. Biomarkers Prev. 14, 1394–1401.

    Article  PubMed  CAS  Google Scholar 

  • Nagaev I., Bokarewa M., Tarkowski A. and Smith U. 2006 Human resistin is a systemic immune-derived proinflammatory cytokine targeting both leukocytes and adipocytes. PLoS One 1, e31.

    Article  Google Scholar 

  • Norata G. D., Ongari M., Garlaschelli K., Tibolla G., Grigore L., Raselli S. et al. 2007 Effect of the −420C/G variant of the resistin gene promoter on metabolic syndrome, obesity, myocardial infarction and kidney dysfunction. J. Intern. Med. 262, 104–112.

    Article  PubMed  CAS  Google Scholar 

  • Obici S., Wang J., Chowdury R., Feng Z., Siddhanta U., Morgan K. et al. 2002 Identification of a biochemical link between energy intake and energy expenditure. J. Clin. Invest. 109, 1599–1605.

    PubMed  CAS  Google Scholar 

  • Osawa H., Tabara Y., Kawamoto R., Ohashi J., Ochi M., Onuma H. et al. 2007 Plasma resistin, associated with single nucleotide polymorphism -420, is correlated with insulin resistance, lower HDL cholesterol, and high-sensitivity C-reactive protein in the Japanese general population. Diabetes Care 30, 1501–1506.

    Article  PubMed  CAS  Google Scholar 

  • Peeters R. P., van den Beld A. W., van Toor H., Uitterlinden A. G., Janssen J. A., Lamberts S. W. et al. 2005 A polymorphism in type I deiodinase is associated with circulating free insulin-like growth factor I levels and body composition in humans. J. Clin. Endocrinol. Metab. 90, 256–263.

    Article  PubMed  CAS  Google Scholar 

  • Quinn L. S., Anderson B. G., Drivdahl R. H., Alvarez B. and Argiles J. M. 2002 Overexpression of interleukin-15 induces skeletal muscle hypertrophy in vitro: implications for treatment of muscle wasting disorders. Exp. Cell Res. 280, 55–63.

    Article  PubMed  CAS  Google Scholar 

  • Reue K. 2009 The lipin family: mutations and metabolism. Curr. Opin. Lipidol. 20, 165–170.

    Article  PubMed  CAS  Google Scholar 

  • Riera-Fortuny C., Real J. T., Chaves F. J., Morales-Suarez-Varela M., Martinez-Triguero M. L., Morillas-Arino C. et al. 2005 The relation between obesity, abdominal fat deposit and the angiotensin-converting enzyme gene I/D polymorphism and its association with coronary heart disease. Int. J. Obes. 29, 78–84.

    Article  CAS  Google Scholar 

  • Rocken C., Neumann K., Carl-McGrath S., Lage H., Ebert M. P., Dierkes J. et al. 2007 The gene polymorphism of the angiotensin I-converting enzyme correlates with tumor size and patient survival in colorectal cancer patients. Neoplasia 9, 716–722.

    Article  PubMed  Google Scholar 

  • Rosen C. J., Kurland E. S., Vereault D., Adler R. A., Rackoff P. J., Craig W. Y. et al. 1998 Association between serum insulin growth factor-I (IGF-I) and a simple sequence repeat in IGF-I gene: implications for genetic studies of bone mineral density. J. Clin. Endocrinol. Metab. 83, 2286–2290.

    Article  PubMed  CAS  Google Scholar 

  • Roth S. M., Schrager M. A., Lee M. R., Metter E. J., Hurley B. F. and Ferrell R. E. 2003 Interleukin-6 (IL6) genotype is associated with fat-free mass in men but not women. J. Gerontol. (A Biol. Sci. Med. Sci.) 58, B1085–B1088.

    Article  Google Scholar 

  • Sallakci N., Akcurin G., Koksoy S., Kardelen F., Uguz A., Coskun M. et al. 2005 TNF-alpha G-308A polymorphism is associated with rheumatic fever and correlates with increased TNF-alpha production. J. Autoimmun. 25, 150–154.

    Article  PubMed  CAS  Google Scholar 

  • Sandri M., Sandri C., Gilbert A., Skurk C., Calabria E., Picard A. et al. 2004 Foxo transcription factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy. Cell 117, 399–412.

    Article  PubMed  CAS  Google Scholar 

  • Sharma S., Sharma A., Kumar S., Sharma S. K. and Ghosh B. 2006 Association of TNF haplotypes with asthma, serum IgE levels, and correlation with serum TNF-alpha levels. Am. J. Respir. Cell Mol. Biol. 35, 488–495.

    Article  PubMed  CAS  Google Scholar 

  • Shimura T., Hagihara M., Takebe K., Munkhbat B., Odaka T., Kato H. et al. 1994 The study of tumor necrosis factor beta gene polymorphism in lung cancer patients. Cancer 73, 1184–1188.

    Article  PubMed  CAS  Google Scholar 

  • Shimura T., Hagihara M., Takebe K., Munkhbat B., Ogoshi K., Mitomi T. et al. 1995 10.5-kb homozygote of tumor necrosis factor-beta gene is associated with a better prognosis in gastric cancer patients. Cancer 75, 1450–1453.

    Article  PubMed  CAS  Google Scholar 

  • Silswal N., Singh A. K., Aruna B., Mukhopadhyay S., Ghosh S. and Ehtesham N. Z. 2005 Human resistin stimulates the pro-inflammatory cytokines TNF-alpha and IL-12 in macrophages by NF-kappaB-dependent pathway. Biochem. Biophys. Res. Commun. 334, 1092–1101.

    Article  PubMed  CAS  Google Scholar 

  • Simpkins C. O. 2000 Metallothionein in human disease. Cell Mol. Biol. 46, 465–488.

    PubMed  CAS  Google Scholar 

  • Skoog T., van’t Hooft F. M., Kallin B., Jovinge S., Boquist S., Nilsson J. et al. 1999 A common functional polymorphism (C–>A substitution at position -863) in the promoter region of the tumour necrosis factor-alpha (TNF-alpha) gene associated with reduced circulating levels of TNF-alpha. Hum. Mol. Genet. 8, 1443–1449.

    Article  PubMed  CAS  Google Scholar 

  • Sohda M., Kato H., Miyazaki T., Nakajima M., Fukuchi M., Manda R. et al. 2004 The role of insulin-like growth factor 1 and insulin-like growth factor binding protein 3 in human esophageal cancer. Anticancer Res. 24, 3029–3034.

    PubMed  CAS  Google Scholar 

  • Stephens N. A., Skipworth R. J. and Fearon K. C. 2008 Cachexia, survival and the acute phase response. Curr. Opin. Support Palliat. Care 2, 267–274.

    Article  PubMed  Google Scholar 

  • Stewart G. D., Skipworth R. J. and Fearon K. C. 2006 Cancer cachexia and fatigue. Clin. Med. 6, 140–143.

    PubMed  Google Scholar 

  • Strandberg L., Lorentzon M., Hellqvist A., Nilsson S., Wallenius V., Ohlsson C. et al. 2006 Interleukin-1 system gene polymorphisms are associated with fat mass in young men. J. Clin. Endocrinol. Metab. 91, 2749–2754.

    Article  PubMed  CAS  Google Scholar 

  • Stuber F., Petersen M., Bokelmann F. and Schade U. 1996 A genomic polymorphism within the tumor necrosis factor locus influences plasma tumor necrosis factor-alpha concentrations and outcome of patients with severe sepsis. Crit. Care Med. 24, 381–384.

    Article  PubMed  CAS  Google Scholar 

  • Tabor H. K., Risch N. J. and Myers R. M. 2002 Candidate-gene approaches for studying complex genetic traits: practical considerations. Nat. Rev. Genet. 3, 391–397.

    Article  PubMed  CAS  Google Scholar 

  • Tan B. H., Deans D. A., Skipworth R. J., Ross J. A. and Fearon K. C. 2008 Biomarkers for cancer cachexia: is there also a genetic component to cachexia? Support Care Cancer 16, 229–234.

    Article  PubMed  CAS  Google Scholar 

  • Tiret L., Rigat B., Visvikis S., Breda C., Corvol P., Cambien F. et al. 1992 Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels. Am. J. Hum. Genet. 51, 197–205.

    PubMed  CAS  Google Scholar 

  • Tolusso B., Pietrapertosa D., Morelli A., De Santis M., Gremese E., Farina G. et al. 2006 IL-1B and IL-1RN gene polymorphisms in rheumatoid arthritis: relationship with protein plasma levels and response to therapy. Pharmacogenomics 7, 683–695.

    Article  PubMed  CAS  Google Scholar 

  • Torra I. P., Chinetti G., Duval C., Fruchart J. C. and Staels B. 2001 Peroxisome proliferator-activated receptors: from transcriptional control to clinical practice. Curr. Opin. Lipidol. 12, 245–254.

    Article  PubMed  CAS  Google Scholar 

  • Vlahopoulos S., Zimmer W. E., Jenster G., Belaguli N. S., Balk S. P., Brinkmann A. O. et al. 2005 Recruitment of the androgen receptor via serum response factor facilitates expression of a myogenic gene. J. Biol. Chem. 280, 7786–7792.

    Article  PubMed  CAS  Google Scholar 

  • Volcik K. A., Ballantyne C. M., Coresh J., Folsom A. R., Wu K. K. and Boerwinkle E. 2006 P-selectin Thr715Pro polymorphism predicts P-selectin levels but not risk of incident coronary heart disease or ischemic stroke in a cohort of 14595 participants: the Atherosclerosis Risk in Communities Study. Atherosclerosis 186, 74–79.

    Article  PubMed  CAS  Google Scholar 

  • von Kugelgen I. 2006 Pharmacological profiles of cloned mammalian P2Y-receptor subtypes. Pharmacol. Ther. 110, 415–432.

    Article  Google Scholar 

  • Voorhoeve P. G., van Rossum E. F., Te Velde S. J., Koper J. W., Kemper H. C., Lamberts S. W. et al. 2006 Association between an IGF-I gene polymorphism and body fatness: differences between generations. Eur. J. Endocrinol. 154, 379–388.

    Article  PubMed  CAS  Google Scholar 

  • Wen A. Q., Wang J., Feng K., Zhu P. F., Wang Z. G. and Jiang J. X. 2006 Effects of haplotypes in the interleukin 1beta promoter on lipopolysaccharide-induced interleukin 1beta expression. Shock 26, 25–30.

    Article  PubMed  CAS  Google Scholar 

  • Wilson A. G., Symons J. A., McDowell T. L., McDevitt H. O. and Duff G. W. 1997 Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc. Natl. Acad. Sci. USA 94, 3195–3199.

    Article  PubMed  CAS  Google Scholar 

  • Wjst M. 2004 Target SNP selection in complex disease association studies. BMC Bioinformatics 5, 92.

    Article  PubMed  Google Scholar 

  • Yang X., Jansson P. A., Pellme F., Laakso M. and Smith U. 2005 Effect of the interleukin-6 (-174) g/c promoter polymorphism on adiponectin zand insulin sensitivity. Obes. Res. 13, 813–817.

    Article  PubMed  CAS  Google Scholar 

  • Zhang D., Zheng H., Zhou Y., Tang X., Yu B. and Li J. 2007 Association of IL-1beta gene polymorphism with cachexia from locally advanced gastric cancer. BMC Cancer 7, 45.

    Article  PubMed  Google Scholar 

  • Zhang D., Zhou Y., Wu L., Wang S., Zheng H., Yu B. et al. 2008 Association of IL-6 gene polymorphisms with cachexia susceptibility and survival time of patients with pancreatic cancer. Ann. Clin. Lab. Sci. 38, 113–119.

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Clinical and Surgical Sciences (Surgery), Royal Infirmary, University of Edinburgh, 51 Little France Crescent, Edinburgh, EH16 4SA, UK

    BENJAMIN H. L. TAN, JAMES A. ROSS & KENNETH C. H. FEARON

  2. Clinical Department of Cancer Research and Molecular Medicine, Faculty of Medicine, Norwegian University of Science and Technology (NTNU), Trondheim, N-7006, Norway

    STEIN KAASA

  3. Department of Laboratory Medicine, Children’s and Women’s Health, Faculty of Medicine, Norwegian University of Science and Technology (NTNU), Trondheim, N-7006, Norway

    FRANK SKORPEN

Authors
  1. BENJAMIN H. L. TAN
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  2. JAMES A. ROSS
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  3. STEIN KAASA
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  4. FRANK SKORPEN
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  5. KENNETH C. H. FEARON
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Consortia

EUROPEAN PALLIATIVE CARE RESEARCH COLLABORATIVE

Corresponding author

Correspondence to BENJAMIN H. L. TAN.

Additional information

[Tan B. H. L., Ross J. A., Kaasa S., Skorpen F., Fearon K. C. H. and European Palliative Care Research Collaborative 2011 Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review. J. Genet. 90, 165–177]

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TAN, B.H.L., ROSS, J.A., KAASA, S. et al. Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review. J Genet 90, 165–177 (2011). https://doi.org/10.1007/s12041-011-0027-4

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  • DOI: https://doi.org/10.1007/s12041-011-0027-4

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