Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease

Journal of Inherited Metabolic Disease

Volumn 31, Issue 1, 2008, Pages 117-123

  Altarescu, G ^a   Chicco, G ^a   Whybra, C ^b   Delgado Sanchez, S ^b   Sharon, N ^a   Beck, M ^b   Elstein, D ^a  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; BIOLOGICAL MARKER; C REACTIVE PROTEIN; INTERLEUKIN 6;

ADULT; ANALYSIS OF VARIANCE; ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; FISHER EXACT TEST; GENE DELETION; GENE FREQUENCY; GENETIC CORRELATION; GENETIC POLYMORPHISM; GENOTYPE; HEMIZYGOSITY; HUMAN; INFLAMMATION; MAINZ SEVERITY SCORE INDEX; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEUROLOGIC DISEASE; NONPARAMETRIC TEST; PROGNOSIS; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; SCORING SYSTEM; SEX DIFFERENCE; STATISTICAL SIGNIFICANCE;

ADULT; ALPHA-GALACTOSIDASE; C-REACTIVE PROTEIN; CASE-CONTROL STUDIES; CHILD; FABRY DISEASE; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; HUMANS; INTERLEUKIN-6; ISCHEMIA; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROMOTER REGIONS (GENETICS); SEVERITY OF ILLNESS INDEX; SEX CHARACTERISTICS;

EID: 40849136301     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0716-6     Document Type: Article

References (24)

1. Allen MJ, Myer BJ, Khokher AM, Rushton N, Cox TM (1997) Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: Increased release of interleukin-6 and interleukin-10. QJM 90: 19-25.
2. Altarescu G, Phillips M, Foldes AJ, Elstein D, Zimran A, Mates M (2003) The interleukin-6 promoter polymorphism in Gaucher disease: A new modifier gene? QJM 96: 575-578.
3. Borsini W, Giuliacci G, Torricelli F, Pelo E, Martinelli F, Scordo MR (2002) Anderson-Fabry disease with cerebrovascular complications in two Italian families. Neurol Sci 3: 49-53.
4. Chamorro A, Revilla M, Obach V, Vargas M, Planas AM (2005) The -174G/C polymorphism of the interleukin 6 gene is a hallmark of lacunar stroke and not other ischemic stroke phenotypes. Cerebrovasc Dis 19: 91-95.
5. Desnick RJ, Brady R, Barranger J, et al (2003) Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138: 338-346.
6. Elstein D, Nir A, Klutstein M, Rudensky B, Zimran A (2005) C-reactive protein and NT-proBNP as surrogate markers for pulmonary hypertension in Gaucher disease. Blood Cells Mol Dis 34: 201-205.
7. Elstein D, Pastores GM, Zimran A, Kolodny E, Lubetzki-Korn I (2007) Late-onset Tay-Sachs (LOTS) disease: Scoring disease severity. American Neurological Association meeting; Washington DC (abstract).
8. Emsley HC, Smith CJ, Gavin CM, et al (2004) Peak plasma interleukin-6 and other peripheral markers of inflammation in the first week of ischaemic stroke correlate with brain infarct volume, stroke severity and long-term outcome. BMC Neurol 4: 2.
9. Eng CM, Desnick RJ (1994) Molecular basis of Fabry disease: Mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 3: 103-111.
10. Eng CM, Banikazemi M, Gordon RE, et al (2001) A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68: 711-722.
11. Fishman D, Faulds G, Jeffery R, 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.
12. Flex A, Gaetani E, Papaleo P (2004) Proinflammatory genetic profiles in subjects with history of ischemic stroke. Stroke 35: 2270-2275.
13. Greisenegger S, Endler G, Haering D, et al (2003) The (-174) G/C polymorphism in the interleukin-6 gene is associated with the severity of acute cerebrovascular events. Thromb Res 110: 181-186.
14. Paik JK, Kim OY, Koh SJ, et al (2007) Additive effect of interleukin-6 and C-reactive protein (CRP) single nucleotide polymorphism on serum CRP concentration and other cardiovascular risk factors. Clin Chim Acta 380: 68-74.
15. Revilla M, Obach V, Cervera A, Davalos A, Castillo J, Chamorro A (2002) A -174G/C polymorphism of the interleukin-6 gene in patients with lacunar infarction. Neurosci Lett 324: 29-32.
16. Rodriguez-Yanez M, Castellanos M, Blanco M, et al (2006) New-onset hypertension and inflammatory response/poor outcome in acute ischemic stroke. Neurology 67: 1973-1977.
17. Rogowski O, Shapira I, Zimran A, et al (2005) Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model. Blood Cells Mol Dis 34: 26-29.
18. Schiffmann R (2001) Natural history of Fabry disease in males: preliminary observations. J Inherit Metab Dis 24 (2 Supplement): 15-17.
19. Schiffmann R, Kopp JB, Austin HA 3rd, et al (2001) Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 285: 2743-2749.
20. Schlager O, Exner M, Mlekusch W, et al (2007) C-reactive protein predicts future cardiovascular events in patients with carotid stenosis. Stroke 38: 1263-1268.
21. Smith CJ, Emsley HC, Gavin CM, et al (2004) Peak plasma interleukin-6 and other peripheral markers of inflammation in the first week of ischaemic stroke correlate with brain infarct volume, stroke severity and long-term outcome. BMC Neurol 154: 2.
22. Smith CJ, Emsley HC, Vail A, et al (2006) Variability of the systemic acute phase response after ischemic stroke. J Neurol Sci 251: 77-81.
23. Whybra C, Kampmann C, Krummenauer F, et al (2004) The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 65: 299-307.
24. Zuliani G, Guerra G, Ranzini M, et al (2007) High interleukin-6 plasma levels are associated with functional impairment in older patients with vascular dementia. Int J Geriatr Psychiatry 22: 305-311.