The genetic background of osteoporosis in cystic fibrosis: Association analysis with polymorphic markers in four candidate genes

Journal of Cystic Fibrosis

Volumn 5, Issue 4, 2006, Pages 229-235

  Castellani, Carlo ^a   Malerba, Giovanni ^b   Sangalli, Antonella ^b   Delmarco, Antonella ^a   Petrelli, Elena ^b   Rossini, Maurizio ^c   Assael, Baroukh M ^a   Mottes, Monica ^b  

^a Azienda Ospedaliera   (Italy)

^b Institute of Biology and Genetics   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

Author keywords

Cystic fibrosis; Modifier genes; Osteoporosis

Indexed keywords

25 HYDROXYVITAMIN D; ANTIBIOTIC AGENT; BIOCHEMICAL MARKER; CALCITONIN RECEPTOR; CALCIUM; CALCIUM ION; COLLAGEN DERIVATIVE; COLLAGEN TYPE 1; COLLAGEN TYPE 1 ALPHA1; ESTROGEN RECEPTOR ALPHA; IMMUNOGLOBULIN G; OSTEOCALCIN; PANCREAS ENZYME; PARATHYROID HORMONE; TESTOSTERONE; TRANSMEMBRANE CONDUCTANCE REGULATOR; VITAMIN D; VITAMIN D RECEPTOR;

ADULT; AGE DISTRIBUTION; ARTICLE; BODY MASS; BODY WEIGHT; BONE DENSITY; BONE MASS; CALCIUM BLOOD LEVEL; CONTROLLED STUDY; CORRELATION ANALYSIS; CYSTIC FIBROSIS; FEMALE; FORCED EXPIRATORY VOLUME; FREQUENCY ANALYSIS; GENDER BIAS; GENE DELETION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MUTATIONAL ANALYSIS; OSTEOPENIA; OSTEOPOROSIS; PANCREAS FUNCTION; PHENOTYPIC VARIATION; SCORING SYSTEM; STATISTICAL SIGNIFICANCE; VERTEBRA FRACTURE;

ADULT; COLLAGEN TYPE I; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DENSITOMETRY; ESTROGEN RECEPTOR ALPHA; FEMALE; GENETIC MARKERS; HUMANS; MALE; OSTEOPOROSIS; PHENOTYPE; POLYMORPHISM, GENETIC; RECEPTORS, CALCITONIN; RECEPTORS, CALCITRIOL; SPINE;

EID: 34247557329     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2006.03.008     Document Type: Article

References (44)

1. Riordan J.R., Rommens J.M., Kerem B., Alon N., Rozmahel L., Grzelczak Z., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 (1989) 1066-1073
2. Rosenstein B.J., and Zeitlin P.L. Cystic fibrosis. Lancet 351 (1998) 277-281
3. Assael B.M., Castellani C., Barao Ocampo M., Iansa P., Callegaro A., and Valsecchi M.G. Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years. Am J Epidemiol 156 (2002) 397-401
4. Cystic Fibrosis Foundation. Patient Registry 2003 Annual Data Report (2004), Cystic Fibrosis Foundation, Bethesda, Maryland
5. Elkin S.L., Fairney A., Burnett S., Kemp M., Kyd P., Burgess J., et al. Vertebral deformities and low bone mineral density in adults with cystic fibrosis: a cross-sectional study. Osteoporosis Int 12 (2001) 366-372
6. Flohr F., Lutz A., App E.M., Mathys H., and Reincke M. Bone mineral density and quantitative ultrasound in adults with cystic fibrosis. Eur J Endocrinol 146 (2002) 531-536
7. Conway S.P., Morton A.M., Oldroyd B., Truscott J.G., White H., Smith A.H., et al. Osteoporosis and osteopenia in adults and adolescents with cystic fibrosis: prevalence and associated factors. Thorax 55 (2000) 798-804
8. Aris R.M., Merkel P.A., Bachrach L.K., Borowitz D.S., Boyle M.P., Elkin S.L., et al. Consensus statement: guide to bone health and disease in cystic fibrosis. J Clin Endocrinol Metab 90 (2005) 1888-1896
9. Frangolias D.D., Parè P.D., Kendler D.L., Davidson A.G., Wong L., Raboud J., et al. Role of exercise and nutrition status on bone mineral density in cystic fibrosis. J Cystic Fibrosis 2 (2003) 163-170
10. Pocock N.A., Eisman J.A., Hopper J.I., Yates G.M., Sambrook P.N., and Ebert S. Genetic determinants of bone mass in adults: a twin study. J Clin Invest 80 (1987) 706-710
11. Morrison N.A., Qi J.C., Tokita A., Kelly P.J., Crofts L., Nguyen T.V., et al. Prediction of bone density from vitamin D receptor alleles. Nature 367 (1994) 284-287
12. Harris S.S., Eccleshall T.R., Gross C., Dawson- Hughes B., and Feldman D. The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women. J Bone Miner Res 12 (1997) 1043-1048
13. Ioannidis J.P., Ralston S.H., Bennett S.T., Brandi M.L., Grinberg D., Karassa F.B., et al. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. JAMA 292 17 (2004 (Nov 3)) 2105-2114
14. Nakamura M., Zhang Z.Q., Shan L., Hisa T., Sasaki M., Tsukino R., et al. Allelic variants of human calcitonin receptor in the Japanese population. Hum Genet 99 (1997) 38-41
15. Braga V., Mottes M., Mirandola S., Lisi V., Malerba G., Sartori L., et al. Association of CR and COLIA1 alleles with BMD values in peri- and postmenopausal women. Calcif Tissue Int 67 (2000) 361-366
16. Braga V., Sangalli A., Malerba G., Mottes M., Mirandola S., Gatti D., et al. Relationship between VDR (BsmI and FokI), COL1A1 and CTR polymorphisms with bone mass, bone turnover markers and sex hormones in men. Calcif Tissue Int 70 (2002) 457-462
17. Taboulet J., Frenkian M., Frendo J.L., Feingold N., Jullienne A., and De Vernejoul M.C. Calcitonin receptor polymorphism is associated with a decreased fracture risk in postmenopausal women. Hum Mol Genet 7 (1998) 2129-2133
18. Grant S.F.A., Reid D.M., Blake G., Herd R., Fogelman I., and Ralston S.H. Reduced bone density and osteoporosis associated with apolymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 14 (1996) 203-205
19. Mann V., Hobson E.E., Li B., Stewart T.L., Grant S.F.A., Robins S.P., et al. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 107 (2001) 899-907
20. Genant H.K., Jergas M., Palermo L., Nevitt M., Valentin R.S., Black D., et al. Comparison of semiquantitative visual and quantitative morphometric assessment of prevalent and incident vertebral fractures in osteoporosis. J Bone Miner Res 11 (1996) 984-996
21. Looker A.C., Wahner H.W., Dunn W.L., Calvo M.S., Harris T.B., Heyse S.P., et al. Proximal femur bone mineral levels of US adults. Osteoporos Int 5 (1995) 389-409
22. Lewiecki E.M., Kendler D.L., Kiebzak G.M., Schmeer P., Prince R.L., El-Hajj Fuleihan G., et al. Special report on the official positions of the International Society for Clinical Densitometry. Osteoporos Int 15 (2004) 779-784
23. Quanier P.H., Tammeling G.J., and Cotes J.E. Lung volumes and forced ventilatory flows. report of the working party "Standardization of Lung Function Tests" European Community for Steel and Coal. Official statement of the European Respiratory Society. Eur Respir J 6 suppl 16 (1993) 5-40
24. Siafakas N.M., Vermeire P., Pride N.B., Paoletti P., Gibson J., Howard P., et al. European Respiratory Society - consensus statement. Optimal assessment and management of chronic obstructive pulmonary disease. Eur Respir J 8 (1995) 1398-1420
25. Bonizzato A., Bisceglia L., Marigo C., Nicolis E., Bombieri C., Castellani C., et al. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-eastern Italy: identification of 90% of the mutations. Hum Genet 95 (1995) 397-402
26. Welsh M.J., and Smith A.E. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73 (1993) 1251-1254
27. Gross C., Eccleshall T.R., Malloy P.J., Luz Villa M., Marcus R., and Feldman D. The presence of a polymorphism at the transcription initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J Bone Miner Res 11 (1996) 1850-1855
28. Kobayashi S., Inoue S., Hosoi T., Ouchi Y., Shiraki M., and Orimo H. Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 11 (1996) 306-310
29. Moskalenko M.V., Aseev M.V., Zazareskaia I.E., Kotova S.M., Ivashchenko I., and Baranov V.S. Analysis of association of COL1A1 gene alleles with the development of osteporosis. Genetika 38 (2002) 1699-1703
30. WHO Study Group. Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: Report of a WHO Study Group. WHO. Technical Report Series vol. 843 (1994), World Health Organization, Geneva
31. King S.J., Topliss D.J., Kotsimbos T., Nyulasi I.B., Bailey M., Ebeling P.R., et al. Reduced bone density in cystic fibrosis: deltaf508 mutation is an independent risk factor. Eur Respir J 25 (2005) 54-61
32. Davies J.C., Griesenbach U., and Alton E. Modifier genes in cystic fibrosis. Pediatr Pulmonol 39 (2005) 383-391
33. Rowntree R.K., and Harris A. The phenotypic consequences of CFTR mutations. Ann Hum Genet 67 (2003) 471-485
34. Acton J.D., and Wilmott R.W. Phenotype of CF and the effects of possible modifier genes. Paediatr Respir Rev 2 (2001) 332-339
35. Drumm M.L. Modifier genes and variation in cystic fibrosis. Respir Res 2 (2001) 125-128
36. Krane S.M., and Holick M.F. Metabolic bone disease. In: Fauci A.S., Martin J.B., Braunwald E., et al. (Eds). Harrison's principles of internal medicine. 14th ed vol. 2 (1998), McGraw- Hill, New York 2247-2259
37. Wonke B., Jensen C., Hanslip J.J., Prescott E., Lalloz M., Layton M., et al. Genetic and acquired predisposing factors and treatment of osteoporosis in thalassemia major. J Pediatr Endocrinol Metab 11 Suppl 3 (1998) 795-801
38. Perrotta S., Cappellini M.D., Bertoldo F., Servedio V., Iolascon G., D'Agruma L., et al. Osteoporosis in beta-thalassemia major patients: analysis of the genetic background. Br J Haematol 111 (2000) 461-466
39. Ioannidis J.P., Stavrou I., Trikalinos T.A., Zois C., Brandi M.L., Gennari L., et al. Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: a meta-analysis. J Bone Miner Res 17 (2002) 2048-2060
40. Rossini M., Del Marco A., Dal santo F., Gatti D., Braggion C., James G., et al. Prevalence and correlates of vertebral fractures in adults with cystic fibrosis. Bone 35 (2004) 771-776
41. Christakos S., and Prince R. Estrogen, vitamin D, and calcium transport. J Bone Miner Res 18 (2003) 1737-1739
42. Dick I.M., Devine A., Beilby J., and Prince R.L. Effects of endogenous estrogen on renal calcium and phosphate handling in elderly women. Am J Physiol Endocrinol Metab 288 (2005) E430-E435
43. Katz S.M., Krueger L.J., and Falkner B. Microscopic nephrocalcinosis in cystic fibrosis. N Engl J Med 319 (1988) 263-266
44. Matthews L.A., Doershuk C.F., Stern R.C., and Resnick M.I. Urolithiasis and Cystic Fibrosis. J Urol 155 (1996) 1563-1564