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Gene Review

CST3  -  cystatin C

Homo sapiens

Synonyms: Cystatin-3, Cystatin-C, Gamma-trace, Neuroendocrine basic polypeptide, Post-gamma-globulin
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Disease relevance of CST3


Psychiatry related information on CST3

  • In the present study we attempted to determine the association between CST3 polymorphism and AD or vascular dementia (VD), and whether such effects are dependent of the APOE4 allele [5].
  • A polymorphism in the cystatin C (CST3) gene was suggested to associate with Alzheimer's disease (AD) [5].

High impact information on CST3

  • Gamma-trace immunoreactivity was noted in many A4-positive microvessel walls, but staining was always less intense than with the anti-A4 antibody [6].
  • In the present multicentric electroencephalographic (EEG) study, we analyzed the effects of CST3 haplotypes on resting cortical rhythmicity in subjects with AD and mild cognitive impairment (MCI) with the hypothesis that sources of resting EEG rhythms are more impaired in carriers of the CST3 B haplotype than non-carriers [7].
  • Results showed that the amplitude of alpha 1 (parietal, occipital, temporal areas) and alpha 2 (occipital area) was statistically lower in CST3 B carriers than non-carriers (P < 0.01) [7].
  • The present findings represent the first demonstration of relationships between the AD genetic risk factor CST3 B and global neurophysiological phenotype (i.e., cortical delta and alpha rhythmicity) in MCI and AD subjects, prompting future genotype-EEG phenotype studies for the early prediction of AD conversion in individual MCI subjects [7].
  • The authors could not confirm the previously reported association between CST3 polymorphisms and AD in Japan. Age had no effect on the CST3 genotype [8].

Biological context of CST3

  • The human cystatin C gene (CST3) is a member of the cystatin gene family which is localized on chromosome 20 [9].
  • RESULTS: The authors find a signficant interaction between the GG genotype of CST3 and age/age of onset on risk for AD, such that in the over-80 age group the GG genotype contributes two-fold increased risk for the disease [10].
  • Associations between polymorphisms of the cystatin C gene (CST3) at 5' flanking region and exon 1 in Caucasian patients with late onset AD and exon 1 in a US study of late onset AD have been reported [8].
  • CONCLUSION: Genotyping data, the absence of a significant difference in allele frequencies between patients and controls, and survival analyses suggest an increased susceptibility for ARMD in CST3 B/B homozygotes [1].
  • No significant differences in CST3 genotype or allele frequencies between cases and controls was observed, while the risk of AD increased in subjects carrying the APOE epsilon4 allele (OR 3.5, 95% CI [2.1-5.9]) [11].

Anatomical context of CST3


Associations of CST3 with chemical compounds


Other interactions of CST3

  • The association of CST3 B/B with AD was independent of APOE epsilon4; both genotypes independently reduced disease-free survival [20].
  • OBJECTIVE: To determine whether the cystatin C gene (CST3) is genetically associated with late-onset Alzheimer disease (AD) [20].
  • We screened the cystatin C gene (CST3) for mutations in 57 sporadic ALS patients and 12 familial ALS cases that did not possess a SOD1 mutation [21].
  • The NR2 hybrid allowed us to exclude three candidate genes for AGS: hepatic nuclear factor 3 beta (HNF3 beta), paired box 1 (PAX1), and cystatin C (CST3) as shown by their localization outside of the deletion [22].
  • To shed light on the catabolism of post-gamma globulin the levels of beta 2-microglobulin were also measured radiometrically [14].

Analytical, diagnostic and therapeutic context of CST3


  1. CST3 genotype associated with exudative age related macular degeneration. Zurdel, J., Finckh, U., Menzer, G., Nitsch, R.M., Richard, G. The British journal of ophthalmology. (2002) [Pubmed]
  2. Detection of low molecular weight cysteine proteinase inhibitors by time-resolved fluoroimmunoassay. Joronen, I., Hopsu-Havu, V.K., Manninen, M., Rinne, A., Järvinen, M., Halonen, P. J. Immunol. Methods (1986) [Pubmed]
  3. Low molecular weight plasma proteins in the cerebrospinal fluid of children with hematological malignancies. Duggan, M.B., Whittaker, J.A., Cooper, E.H., Bailey, C.C., Robinson, E.A. Med. Pediatr. Oncol. (1984) [Pubmed]
  4. gamma-trace in human pituitary adenomas. Löfberg, H., Grubb, A.O., Jörnvall, H., Möller, C.A., Strömblad, L.G., Olsson, S.O. J. Clin. Endocrinol. Metab. (1984) [Pubmed]
  5. The association of a cystatin C gene polymorphism with late-onset Alzheimer's disease and vascular dementia. Lin, C., Wang, S.T., Wu, C.W., Chuo, L.J., Kuo, Y.M. The Chinese journal of physiology. (2003) [Pubmed]
  6. Immunohistochemical study of cerebral amyloid angiopathy. III. Widespread Alzheimer A4 peptide in cerebral microvessel walls colocalizes with gamma trace in patients with leukoencephalopathy. Vinters, H.V., Secor, D.L., Pardridge, W.M., Gray, F. Ann. Neurol. (1990) [Pubmed]
  7. Genotype (cystatin C) and EEG phenotype in Alzheimer disease and mild cognitive impairment: a multicentric study. Babiloni, C., Benussi, L., Binetti, G., Bosco, P., Busonero, G., Cesaretti, S., Dal Forno, G., Del Percio, C., Ferri, R., Frisoni, G., Ghidoni, R., Rodriguez, G., Squitti, R., Rossini, P.M. Neuroimage (2006) [Pubmed]
  8. Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease. Maruyama, H., Izumi, Y., Oda, M., Torii, T., Morino, H., Toji, H., Sasaki, K., Terasawa, H., Nakamura, S., Kawakami, H. Neurology (2001) [Pubmed]
  9. The human cystatin C gene (CST3) is a member of the cystatin gene family which is localized on chromosome 20. Saitoh, E., Sabatini, L.M., Eddy, R.L., Shows, T.B., Azen, E.A., Isemura, S., Sanada, K. Biochem. Biophys. Res. Commun. (1989) [Pubmed]
  10. A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease. Crawford, F.C., Freeman, M.J., Schinka, J.A., Abdullah, L.I., Gold, M., Hartman, R., Krivian, K., Morris, M.D., Richards, D., Duara, R., Anand, R., Mullan, M.J. Neurology (2000) [Pubmed]
  11. No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population. Monastero, R., Camarda, C., Cefalù, A.B., Caldarella, R., Camarda, L.K., Noto, D., Averna, M.R., Camarda, R. J. Alzheimers Dis. (2005) [Pubmed]
  12. Alzheimer disease-associated cystatin C variant undergoes impaired secretion. Benussi, L., Ghidoni, R., Steinhoff, T., Alberici, A., Villa, A., Mazzoli, F., Nicosia, F., Barbiero, L., Broglio, L., Feudatari, E., Signorini, S., Finckh, U., Nitsch, R.M., Binetti, G. Neurobiol. Dis. (2003) [Pubmed]
  13. Urinary cystatin C as a specific marker of tubular dysfunction. Conti, M., Moutereau, S., Zater, M., Lallali, K., Durrbach, A., Manivet, P., Eschwège, P., Loric, S. Clin. Chem. Lab. Med. (2006) [Pubmed]
  14. Post-gamma globulin. II. Radioimmunoassay determination of levels of post-gamma globulin and beta 2-microglobulin. Poulik, M.D., Perry, D.J., Vokac, E., Sekine, T. Clin. Chim. Acta (1983) [Pubmed]
  15. Occurrence of beta2-microglobulin and post-gamma globulin in human semen. Colle, A., Guinet, R., Leclercq, M., Manuel, Y. Clin. Chim. Acta (1976) [Pubmed]
  16. Immunoreactive A4 and gamma-trace peptide colocalization in amyloidotic arteriolar lesions in brains of patients with Alzheimer's disease. Vinters, H.V., Nishimura, G.S., Secor, D.L., Pardridge, W.M. Am. J. Pathol. (1990) [Pubmed]
  17. Cystatin C (CST3), the candidate gene for hereditary cystatin C amyloid angiopathy (HCCAA), and other members of the cystatin gene family are clustered on chromosome 20p11.2. Schnittger, S., Rao, V.V., Abrahamson, M., Hansmann, I. Genomics (1993) [Pubmed]
  18. An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism. Balbín, M., Grubb, A., Abrahamson, M. Hum. Genet. (1993) [Pubmed]
  19. Demonstration of gamma-trace in normal endocrine cells of the adrenal medulla and in phaeochromocytoma. An immunohistochemical study in monkey, dog and man. Löfberg, H., Nilsson, K.E., Strömblad, L.G., Lasson, A., Olsson, S.O. Acta Endocrinol. (1982) [Pubmed]
  20. Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease. Finckh, U., von der Kammer, H., Velden, J., Michel, T., Andresen, B., Deng, A., Zhang, J., Müller-Thomsen, T., Zuchowski, K., Menzer, G., Mann, U., Papassotiropoulos, A., Heun, R., Zurdel, J., Holst, F., Benussi, L., Stoppe, G., Reiss, J., Miserez, A.R., Staehelin, H.B., Rebeck, G.W., Hyman, B.T., Binetti, G., Hock, C., Growdon, J.H., Nitsch, R.M. Arch. Neurol. (2000) [Pubmed]
  21. Genetic analysis of the cystatin C gene in familial and sporadic ALS patients. Watanabe, M., Jackson, M., Ikeda, M., Mizushima, K., Amari, M., Takatama, M., Hirai, S., Ikeda, Y., Shizuka-Ikeda, M., Okamoto, K. Brain Res. (2006) [Pubmed]
  22. Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes. Deleuze, J.F., Dhorne, S., Hazan, J., Borghi, E., Raynaud, N., Pollet, N., Meunier-Rotival, M., Deschatrette, J., Alagille, D., Hadchouel, M. Mamm. Genome (1994) [Pubmed]
  23. Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease. Goddard, K.A., Olson, J.M., Payami, H., van der Voet, M., Kuivaniemi, H., Tromp, G. Neurogenetics (2004) [Pubmed]
  24. Genotype and plasma concentration of cystatin C in patients with late-onset Alzheimer disease. Chuo, L.J., Sheu, W.H., Pai, M.C., Kuo, Y.M. Dementia and geriatric cognitive disorders (2007) [Pubmed]
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