Human chitotriosidase polymorphism is associated with human longevity in Mediterranean nonagenarians and centenarians

Journal of Human Genetics

Volumn 55, Issue 1, 2010, Pages 8-12

  Malaguarnera, Lucia ^a   Ohazuruike, Luca Nnawuihe ^a   Tsianaka, Christina ^a   Antic, Tijana ^a   Di Rosa, Michelino ^a   Malaguarnera, Mariano ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

Chitotriosidase; Human longevity; Mediterranean area; Polymorphism

Indexed keywords

CHITOTRIOSIDASE;

AGED; AGING; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE ACTIVITY; GENE DUPLICATION; GENE FREQUENCY; GENOTYPE; HETEROZYGOSITY; HUMAN; LONGEVITY; MAJOR CLINICAL STUDY; MALE; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AGED, 80 AND OVER; AGING; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOTYPE; HETEROZYGOTE; HEXOSAMINIDASES; HOMOZYGOTE; HUMANS; LONGEVITY; MEDITERRANEAN REGION; MIDDLE AGED; POLYMORPHISM, GENETIC;

EID: 76149123218     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.111     Document Type: Article

References (40)

1. Velkoff, V. Centenarians in the United States, 1990 and beyond. Stat. Bull. Metrop. Insur. Co. 81, 2-9 (2000).
2. Risch, N. & Zhang, H. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 268, 1584-1589 (1995).
3. Debono, M. & Gordee, R. S. Antibiotics that inhibit fungal cell wall development. Annu. Rev. Microbiol. 48, 471-497 (1994).
4. Araujo, A. C., Souto-Padron, T. & de Souza, W. Cytochemical localization of carbohydrate residues in microfilariae of Wuchereria bancrofti and Brugia malayi. J. Histochem. Cytochem. 41, 571-578 (1993).
5. Boot, R. G., Renkema, G. H., Verhoek, M., Strijland, A., Bliek, J., de Meulemeester, T. M. et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J. Biol. Chem. 273, 25680-25685 (1998).
6. van Eijk, M., van Roomen, C. P., Renkema, G. H., Bussink, A. P., Andrews, L., Blommaart, E. F. et al. Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity. Int. Immunol. 17, 1505-1512 (2005).
7. Hollak, C. E., van Weely, S., van Oers, M. H. & Aerts, J. M. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 93, 1288-1292 (1994).
8. Brinkman, J., Wijburg, F. A., Hollak, C. E., Groener, J. E., Verhoek, M., Scheij, S. et al. Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. J. Inherit. Metab. Dis. 28, 13-20 (2005).
9. Michelakakis, H., Dimitriou, E. & Labadaridis, I. The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update. J. Inherit. Metab. Dis. 27, 705-706 (2004).
10. Guo, Y., He, W., Boer, A. M., Wevers, R. A., de Bruijn, A. M., Groener, J. E. et al. Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J. Inherit. Metab. Dis. 18, 717-722 (1995).
11. Malaguarnera, L. Chitotriosidase: the yin and yang. Cell Mol. Life Sci. 63, 3018-3029 (2006).
12. Di Rosa, M., Zambito, A. M., Marsullo, A. R., Volti, G. L. & Malaguarnera, L. Prolactin induces chitotriosidase expression in human macrophages through PTK, PI3-K, and MAPK pathways. J. Cell Biochem. 107, 881-889 (2009).
13. Di Rosa, M., Musumeci, M., Scuto, A., Musumeci, S. & Malaguarnera, L. Effect of interferon-gamma, interleukin 10, lipopolysaccharide and tumor necrosis factor-alpha on chitotriosidase synthesis in human macrophages. Clin. Chem. Lab. Med. 43, 499-502 (2005). (Pubitemid 41460626)
14. Malaguarnera, L., Musumeci, M., Licata, F., Di Rosa, M., Messina, A. & Musumeci, S. Prolactin induces chitotriosidase gene expression in human monocyte-derived macrophages. Immunol. Lett. 94, 57-63 (2004).
15. Malaguarnera, L., Musumeci, M., Di Rosa, M., Scuto, A. & Musumeci, S. Interferongamma, tumor necrosis factor- alpha, and lipopolysaccharide promote chitotriosidase gene expression in human macrophages. J. Clin. Lab. Anal. 19, 128-132 (2005). (Pubitemid 40746139)
16. Canudas, J., Cenarro, A., Civeira, F., Garcí-Otín, A. L., Arístegui, R., Díaz, C. et al. Chitotriosidase genotype and serum activity in subjects with combined hyperlipidemia: effect of the lipid-lowering agents, atorvastatin and bezafibrate. Metabolism 50, 447-450 (2001).
17. Malaguarnera, L., Simporè , J., Prodi, D. A., Angius, A., Sassu, A., Persico, I. et al. A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions. Genes Immun. 4, 570-574 (2003).
18. Boot, R. G., van Achterberg, T. A., van Aken, B. E., Renkema, G. H., Jacobs, M. J., Aerts, J. M. et al. Strong induction of members of the chitinase family of proteins in atherosclerosis: Chitotriosidase and human cartilage gp-39 expressed in lesion macrophages. Arterioscler ThrombVasc. Biol. 19, 687-694 (1999).
19. Artieda, M., Cenarro, A., Ganan, A., Jericó , I., Gonzalvo, C., Casado, J. M. et al. Serum chitotriosidase activity is increased in subjects with atherosclerosis disease. Arterioscler. Thromb. Vasc. Biol. 23, 1645-1652 (2003).
20. Artieda, M., Cenarro, A., Gañán, A., Lukic, A., Moreno, E., Puzo, J. et al. Serum chitotriosidase activity, a marker of activated macrophages, predicts new cardiovascular events independently of C-reactive protein. Cardiology 108, 297-306 (2007).
21. Ross, R. Atherosclerosis: an inflammatory disease. N. Engl. J. Med. 340, 115-126 (1999).
22. Libby, P., Ridker, P. M. & Maseri, A. Inflammation and atherosclerosis. Circulation 105, 1135-1143 (2002).
23. Moreno, P. R., Falk, E., Palacios, I. F., Newell, J. B., Fuster, V. & Fallon, J. T. Macrophage infiltration in acute coronary syndromes. Implications for plaque rupture. Circulation 90, 775-778 (1994).
24. Karadag, B., Kucur, M., Isman , F, Hacibekiroglu, M. & Vural, V. A. Serum chitotriosidase activity in patients with coronary artery disease. Circ. J. 72, 71-75 (2008).
25. Sotgiu, S., Barone, R., Zanda, B., Arru, G., Fois, M. L., Arru, A. et al. Chitotriosidase in patients with acute ischemic stroke. Eur. Neurol. 54, 149-153 (2005).
26. Di Rosa, M., Dell'Ombra, N., Zambito, A. M., Malaguarnera, M., Nicoletti, F. & Malaguarnera, L. Chitotriosidase and inflammatory mediator levels in Alzheimer's disease and cerebrovascular dementia. Eur. J. Neurosci. 23, 2648-2656 (2006). (Pubitemid 43801456)
27. Casal, J. A., Robles, A. & Tutor, J. C. Serum markers of monocyte/macrophage activation in patients with Alzheimer's disease and other types of dementia. Clin. Biochem. 36, 553-556 (2003).
28. Malaguarnera, L., Di Rosa, M., Zambito, A. M., Dell'Ombra, N., Nicoletti, F. & Malaguarnera, M. Chitotriosidase gene expression in Kupffer cells of non-alcoholic fatty liver disease patients. Gut 55, 1313-1320 (2006).
29. Malaguarnera, L., Di Rosa, M., Zambito, A. M., Dell'Ombra, N., Di Marco, R. & Malaguarnera, M. Potential role of chitotriosidase gene in nonalcoholic fatty liver disease evolution. Am. J. Gastroenterol. 101, 2060-2069 (2006). (Pubitemid 44337632)
30. Kurt, I., Abasli, D., Cihan, M., Serdar, M. A., Olgun, A., Saruhan, E. et al. Chitotriosidase levels in healthy elderly subjects. Ann. NY Acad. Sci. 1100, 185-188 (2007).
31. Hise, A. G., Hazlett, F. E., Bockarie, M. J., Zimmerman, P. A., Tisch, D. J. & Kazura, J. W. Polymorphisms of innate immunity genes and susceptibility to lymphatic filariasis. Genes Immun. 4, 524-527 (2003).
32. Choi, E. H., Zimmerman, P. A., Foster, C. B., Zhu, S., Kumaraswami, V., Nutman, T. B. et al. Genetic polymorphisms in molecules of innate immunity and susceptibility to infection with Wuchereria bancrofti in South India. Genes Immun. 2, 248-253 (2001).
33. Lehrnbecher, T., Bernig, T., Hanisch, M., Koehl, U., Behl, M., Reinhardt, D. et al. Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia. Leukemia 19, 1745-1750 (2005).
34. Masoud, M., Rudensky, B., Elstein, D. & Zimran, A. Chitotriosidase deficiency in survivors of Candida sepsis. Blood Cells Mol. Dis. 29, 116-118 (2002).
35. Choi, E. H., Taylor, J. G., Foster, C. B., Walsh, T. J., Anttila, V. J., Ruutu, T. et al. Common polymorphisms in critical genes of innate immunity does not contribute to the risk for chronic disseminated candidiasis in adult leukemia patients. Med. Mycol. 43, 349-353 (2005).
36. Piras, I., Falchi, A., Melis, A., Ghiani, M. E., Calò , C. M., Varesi, L. et al. 24 bp duplication of CHIT1 gene is not correlated with coronary artery disease in Corsica Island (France). Exp. Mol. Pathol. 83, 490-492 (2007).
37. Piras, I., Melis, A., Ghiani, M. E., Falchi, A., Luiselli, D., Moral, P. et al. Human CHIT1 gene distribution: new data from Mediterranean and European populations. J. Hum. Genet. 52, 110-116 (2007).
38. Lee, P., Waalen, J., Crain, K., Smargon, A. & Beutler, E. Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. Blood Cells Mol. Dis. 39, 353-360 (2007).
39. Shibata, Y., Foster, L. A., Kurimoto, M., Okamura, H., Nakamura, R. M., Kawajiri, K. et al. Immunoregulatory roles of IL-10 in innate immunity: IL-10 inhibits macrophage production of IFN gamma-inducing factors but enhances NK cell production of IFNgamma. J. Immunol. 161, 4283-4288 (1998).
40. Shibata, Y., Honda, I., Justice, J. P., Van Scott, M. R., Nakamura, R. M., Myrvik, Q. N. et al. Th1 adjuvant N-acetyl-D-glucosamine polymer up-regulates Th1 immunity but down-regulates Th2 immunity against a mycobacterial protein (MPB-59) in interleukin- 10- knockout and wild-type mice. Infect. Immun. 69, 6123-6130 (2001).