Polymorphism analysis in the COLIA1 gene of patients with thalassemia major and intermedia

Haematologia

Volumn 32, Issue 4, 2002, Pages 475-482

  Arisal, O ^a   Deviren, A ^a   Yosunkaya Fenerci, E ^a   Hacihanefioglu, S ^a   Ulutin, T ^a   Erkmen, S ^b   Buyru, N ^c  

^a ISTANBUL UNIVERSITY   (Turkey)

^b N Dr Burhan Nalbantoglu State Hos   (Cyprus)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Collagen; Osteoporosis; Polymorphism; Thalassemia

Indexed keywords

ASCORBIC ACID; BISPHOSPHONIC ACID DERIVATIVE; CALCIUM DERIVATIVE; COLLAGEN TYPE 1; DEFEROXAMINE; GUANINE; PAMIDRONIC ACID; THYMIDINE;

ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; BONE DENSITY; BONE MINERAL; CONTROLLED STUDY; FEMALE; GENETIC POLYMORPHISM; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; OSTEOPENIA; OSTEOPOROSIS; THALASSEMIA MAJOR;

ADULT; BASE SEQUENCE; BETA-THALASSEMIA; BINDING SITES; BONE DENSITY; BONE DISEASES, METABOLIC; COLLAGEN TYPE I; DNA; FEMALE; HUMANS; MALE; OSTEOPOROSIS; POLYMORPHISM, GENETIC; SP1 TRANSCRIPTION FACTOR; THALASSEMIA; TURKEY;

EID: 0038281395     PISSN: 00176559     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. WHO Working Group, Hereditary anemias. Genetic basis, clinical features, diagnosis and treatment, Bull. World Health Org. 60, 643 (1982).
2. Johansson, C. E., Musculoskelatal problems in hemoglobinopathy, Orthop. Clin. North Am. 21, 191-198 (1990).
3. Soroko, S. B., Barnet-Connor, E., Edelstein, S. L., Kritz-Silverstain, U., Family history of osteoporosis and bone mineral density at the axial skeleton: The Rancho Bernardo study, J. Bone Miner. Res. 9, 761-769 (1994).
4. Pocock, N. A., Eisman, J. A., Hopper, J. L., Yeates, M. G., Sambrook, P. N., Eberl, S., Genetics determinants of bone mass in adults: A twin study, J. Clin. Invest. 80, 706-710 (1987).
5. Smith, D. M., Nance, W. E., Kang, K. W., Christiansen J. C., Johnston, C. C., Genetic factors in determining bone mass, J. Clin. Invest. 52, 2800-2808 (1973).
6. Kanis, J. A., Melton, L. J., Christiansen, C., Johnston, C. C., Khaltaev, N., The diagnosis of osteoporosis, J. Bone Miner. Res. 9, 1137- 1141 (1994).
7. Jensen, C. E., Tuck, S. M., Agnew, J. E., Koneru, S., Morris, R. W., Yardumian, A., Prescott, E., Hoffbrand, A. V., Wonke, B., High prevalence of low bone mass in thalassemia major, Br. J. Haematol. 103, 911-915 (1998).
8. DeSchepper, J., Derde, M. P., Van den Broeck, M., Piepaz, A., Jonckheer, M. H., Normative data for lumbar spine bone mineral content in children: influence of age, height, weight, and pubertal stage, J. Nucl. Med. 32, 216-220 (1990).
9. Gallagher, J. C., Goldgar, D., Moy, A., Total bone calcium in normal women: effects of age and menopause status, J. Bone Miner. Res. 2, 491-496 (1987).
10. Mozess, R. B., Barden, H. S., Drinka, P. L., Bauwens, S. F., Orwoll, E. S., Bell, N. H., Influence of age and body weight on spine and femur bone mineral density in US white men, J. Bone Miner. Res. 6, 645-652 (1990).
11. Lindsay, R., Cosman, F., Herrington, B. S., Himmelstein, S., Bone mass and body composition in normal women, J. Bone Miner. Res. 7, 55-63 (1992).
12. Cooper, G. S., Umbach, D. M., Are vitamin D receptor polymorphisms associated with bone mineral density? A meta analysis, J. Bone Miner. Res. 11, 1841-1849 (1996).
13. Dequeker, J., Nijs, J., Verstraeten, A., Geusens, P., Gevers, G., Genetic determinants of bone mineral content at the spine and radius: A twin study, Bone 8, 207-209 (1987).
14. Kelly, P. J., Eisman, J. A., Sambrook, P. N., Interaction of genetic and environmental influences on peak bone density, Osteopor. Int. 1, 56-60 (1990).
15. Morrison, N. A., Qi, J. C., Tokita, A., Kelly, D. J., Crafts, L., Nguyen, T. V., Sambrook, P. N., Eisman, J. A., Prediction of bone density from vitamin D receptor alleles, Nature 367, 284-287 (1994).
16. Kobayashi, S., Inoue, S., Hosoi, T., Ouchi, Y., Shiraki, M., Orimo, H., Association of bone mineral density with polymorphism of the estrogen receptor gene, J. Bone Miner. Res. 11, 306-311 (1996).
17. Sano, M., Inoue, S., Hosoi, T., Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis, Biochem. Biophys. Res. Comun. 217, 378-383 (1995).
18. Georgiadis, E. A., Billi, C., Georgiadis, A. E., Florentin, L., Evidence that COLIA1 genotype but not vitamin D receptor genotype (VDR) may contribute to the heritability of bone mineral density in postmenopausal women (PWM) in Greece, Osteoporos. Int. 11 (Suppl. 2), 147 (2000).
19. Atalay, F., Sahin, O., Seyrantepe, V., The relationship between defferent genotypes of collagen type 1 alpha (COLIA1) and bone mineral density in postmenopausal women, Osteoporos. Int. 11 (Suppl. 2), 146 (2000).
20. Manolagas, S. C., Jilka, R. L., Bone marrow, cytokines and bone remodeling. Emerging insight into the pathophysiology of osteoporosis [Review], N. Engl. J. Med. 332, 305-311 (1995).
21. Grant, S. F. A., Reid, D. M., Blake, G., Herd, R., Fogelman, I., Ralston, S. H., Reduced bone density and osteoporosis associated with a polymorphic Sp1 bilding site in the collagen type 1 alpha gene, Nature Genet. 14, 203-205 (1996).
22. Roudier, G., Hany, Y., Louboutin, J. Y., Ferrand, B., Bourel, M., Histomorphometrie et manifestations articulaires de l'hémochromatose idiopathique, Rev. Rheumol. Malad. Osteoarticul. 46, 91-99 (1979) (in French).
23. Weichetova, M., Stepan, J. J., Michalska, D., Haas, T., Pols, H. A. P., Uitterlinden, A. G., COLIA1 polymorphism contributes to bone mineral density to assess prevalent wrist fractures, Bone 26, 287-290 (2000).
24. Wonke, B., Jensen, C., Hanslip, J. J., Prescott, E., Lalloz, M., Erten, S., Tuck, S., Agnew, J. E., Raya, K., Davies, K., Hoffbrand, A. V., Genetic and acquired predisposing factors and treatment of osteoporosis in thalassemia major, J. Pediatr. Endocr. Metab. 11, 795-801 (1998).