Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls

Physiological Genomics

Volumn 14, Issue , 2003, Pages 217-224

  Suuriniemi, Miia ^a,b   Mahonen, Anitta ^c   Kovanen, Vuokko ^a   Alén, Markku ^d   Cheng, Sulin ^a  

^a UNIVERSITY OF JYVÄSKYLÄ   (Finland)

^b LIKES RESEARCH CENTER FOR SPORT AND HEALTH SCIENCES   (Finland)

^c UNIVERSITY OF EASTERN FINLAND   (Finland)

^d Peurunka Medical Rehabilitation Ctr   (Finland)

Author keywords

Children; Genetics; Osteoporosis; Type I collagen

Indexed keywords

ALLELE; ANTHROPOMETRIC PARAMETERS; ARTICLE; BODY COMPOSITION; BONE DENSITY; BONE DEVELOPMENT; BONE MASS; BONE MINERAL; BONE TURNOVER; COLLAGEN TYPE I ALPHA2 GENE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DIAGNOSTIC IMAGING; DNA POLYMORPHISM; DUAL ENERGY X RAY ABSORPTIOMETRY; FEMALE; FINLAND; FRACTURE; FRAGILITY FRACTURE; GEL COUPLING SCANNING QUANTITATIVE ULTRASONOMETRY; GENE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; GROWTH ACCELERATION; HUMAN; HUMAN CELL; HUMAN EXPERIMENT; NORMAL HUMAN; OSTEOPOROSIS; PERIPHERAL QUANTITATIVE COMPUTED TOMOGRAPHY; PHYSICAL ACTIVITY; PREPUBERTY; PRIORITY JOURNAL; RADIUS; SCHOOL CHILD; SPINE; TIBIA; ULTRASOUND BONE SONOMETRY; BINDING SITE; BONE REMODELING; CHILD; CLINICAL TRIAL; GENETIC PREDISPOSITION; GENETICS; MULTICENTER STUDY; PUBERTY; RETROSPECTIVE STUDY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ALPHA 2(I) COLLAGEN; COLLAGEN; ENDODEOXYRIBONUCLEASE PVUII; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

BINDING SITES; BONE DENSITY; BONE REMODELING; CHILD; COLLAGEN; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; FINLAND; FRACTURES, BONE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PUBERTY; RETROSPECTIVE STUDIES; RISK FACTORS;

EID: 0242270688     PISSN: 15312267     EISSN: None     Source Type: Journal    
DOI: 10.1152/physiolgenomics.00070.2003     Document Type: Article

References (42)

1. Audi L, Garcia Ramirez M, and Carrascosa A. Genetic determinants of bone mass. Horm Res 51: 105-123,
2. Barkmann R, Kantorovich E, Singal C, Hans D, Genant HK, Heller M, and Gluer CC. A new method for quantitative ultrasound measurements at multiple skeletal sites: first results of precision and fracture discrimination. J Clin Densitom 3: 1-7, 2000, 1999
3. Bernad M, Martinez ME, Escalona M, Gonzalez ML, Gonzalez C, Garces MV, Del Campo MT, Martin Mola E, Madero R, and Carreno L. Polymorphism in the type I collagen (COLIA1) gene and risk of fractures in postmenopausal women. Bone 30: 223-228, 2002.
4. Blumsohn A, Hannon R, and Eastell R. Apparent instability of osteocalcin in serum as measured with different commercially available immunoassays. Clin Chem 41: 318-319, 1995.
5. Cáceres JF and Kornblihtt AR. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet 18: 186-193, 2002.
6. Campbell BG, Wootton JA, Macleod JN, and Minor RR. Canine COL1A2 mutation resulting in C-terminal truncation of pro-α2(I) and severe osteogenesis imperfecta. J Bone Miner Res 16: 1147-1153, 2001.
7. Cheng S, Fan B, Wang L, Fuerst T, Lian M, Njeh C, He Y, Kern M, Lappin M, Tylavsky F, Casal D, Harris S, and Genant HK. Factors affecting broadband ultrasound attenuation results of the calcaneus using a gel-coupled quantitative ultrasound scanning system. Osteoporos Int 10: 495-504, 1999.
8. Cheng S, Kröger H, Junkala T, Koistinen A, Kuronen P, Renko R, Tylavsky F, and Suominen H. Physical activity and bone mass in prepubertal girls. J Bone Miner Res 15, Suppl 1: S333, 2000.
9. Cheng S, Tylavsky FA, Orwoll ES, Rho JY, and Carbone LD. The role of collagen abnormalities in ultrasound and densitometry assessment: in vivo evidence. Calcif Tissue Int 64: 470-476, 1999.
10. Chipman SD, Sweet HO, McBride DJ, Davisson MT, Marks SC, Shuldiner AR, Wenstrup RJ, Rowe DW, and Shapiro JR. Defective pro-α2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. Proc Natl Acad Sci USA 90: 1701-1705, 1993.
11. Constantinou CD, Spotila LD, Zhuang J, Sereda L, Hanning C, and Prockop DJ. PvuII polymorphism at the COL1A2 locus. Nucleic Acids Res 18: 5577, 1990.
12. Ferrari S, Rizzoli R, Slosman D, and Bonjour JP. Familial resemblance for bone mineral mass is expressed before puberty. J Clin Endocrinol Metab 83: 358-361, 1998.
13. Garnero P, Cloos P, Sornay-Rendu E, Qvist P, and Delmas PD. Type I collagen racemization and isomerization and the risk of fracture in postmenopausal women: the OFELY prospective study. J Bone Miner Res 17: 826-833, 2002.
14. Gomez B, Ardakani S, Ju J, Jenkins D, Cerelli MJ, Daniloff GY, and Kung VT. Monoclonal antibody assay for measuring bone-specific alkaline phosphatase activity in serum. Clin Chem 41: 1560-1566, 1995.
15. Grant SF, Reid DM, Blake G, Herd R, Fogelman I, and Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α1 gene. Nat Genet 14: 203-205, 1996.
16. Halleen J, Hentunen TA, Hellman J, and Väänänen HK. Tartrate-resistant acid phosphatase from human bone: purification and development of an immunoassay. J Bone Miner Res 11: 1444-1452, 1996.
17. Halleen JM, Hentunen TA, Karp M, Kakonen SM, Pettersson K, and Väänänen HK. Characterization of serum tartrate-resistant acid phosphatase and development of a direct two-site immunoassay. J Bone Miner Res 13: 683-687, 1998.
18. Hans D, Srivastav SK, Singal C, Barkmann R, Njeh CF, Kantorovich E, Gluer CC, and Genant HK. Does combining the results from multiple bone sites measured by a new quantitative ultrasound device improve discrimination of hip fracture? J Bone Miner Res 14: 644-651, 1999.
19. Hickman M, Roberts C, and Gaspar de Matos M. Exercise and leisure-time activities. In: Health and Health Behaviour Among Young People, edited by Currie C, Hurrelmann K, Settertotulte W, Smith R, and Todd J. Health Promotion and Investment for Health, World Health Organization Regional Office for Europe. Copenhagen: 2000, p. 73-82.
20. Keen RW, Woodford-Richens KL, Grant SFA, Ralston SH, Lanchbury JS, and Spector TD. Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover. Arthritis Rheum 42: 185-190, 1999.
21. Krawczak M, Reiss J, and Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90: 41-54, 1992.
22. Kuivaniemi H, Tromp G, Chu ML, and Prockop DJ. Structure of a full-length cDNA clone for the prepro α2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation. Biochem J 252: 633-640, 1988.
23. Landis WJ. The strength of a calcified tissue depends in part on the molecular structure and organization of its constituent mineral crystals in their organic matrix. Bone 16: 533-544, 1995.
24. Martin RB and Ishida J. The relative effects of collagen fiber orientation, porosity, density, and mineralization on bone strength. J Biomech 22: 419-426, 1989.
25. McBride DJ, Shapiro JR, and Dunn MG. Bone geometry and strength measurements in aging mice with the oim mutation. Calcif Tissue Int 62: 172-176, 1998.
26. Mehta SS, Oz OK, and Antich PP. Bone elasticity and ultrasound velocity are affected by subtle changes in the organic matrix. J Bone Miner Res 13: 114-121, 1998.
27. Melkko J, Kauppila S, Niemi S, Risteli L, Haukipuro K, Jukkola A, and Risteli J. Immunoassay for intact amino-terminal propeptide of human type I procollagen. Clin Chem 42: 947-954, 1996.
28. Muller RF and Young ID. Emery's Elements of Medical Genetics. Edinburgh, Scotland: Churchill Livingston, 1995, p. 93-104.
29. Nicholls AC, Oliver J, McCarron S, Winter GB, and Pope M. Splice site mutation causing deletion of exon 21 sequences from the pro α2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta. Hum Mutat 7: 219-227, 1996.
30. Paterson CR and Mole PA. Bone density in osteogenesis imperfecta may well be normal. Postgrad Med J 70: 104-107, 1994.
31. Phillips CL, Bradley DA, Schlotzhauer CL, Bergfeld M, Libreros-Minotta C, Gawenis LR, Morris JS, Clarke LL, and Hillman LS. Oim mice exhibit altered femur and incisor mineral composition and decreased bone mineral density. Bone 27: 219-226, 2000.
32. Rose NJ, Mackay K, Byers PH, and Dalgleish R. A Gly238Ser substitution in the α2 chain of type I collagen results in osteogenesis imperfecta type III. Hum Genet 95: 215-218, 1995.
33. Saban J, Zussman MA, Havey R, Patwardhan AG, Schneider GB, and King D. Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta. Bone 19: 575-579, 1996.
34. Sainz J, Van Tornout JM, Sayre J, Kaufman F, and Gilsanz V. Association of collagen type 1 α1 gene polymorphism with bone density in early childhood. J Clin Endocrinol Metab 84: 853-855, 1999.
35. Shapiro J. An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine at the triple helix position 43 in the pro α1 (I) chain of type I collagen. J Clin Invest 89: 567-573, 1992.
36. Shapiro JR, Burn VE, Chipman SD, Velis KP, and Bansal M. Osteoporosis and familial idiopathic scoliosis: association with an abnormal α2(I) collagen. Connect Tissue Res 21: 117-124, 1989.
37. Spotila LD, Colige A, Sereda L, Constantinou-Deltas CD, Whyte MP, Riggs BL, Shaker JL, Spector TD, Hume E, and Olsen N. Mutation analysis of coding sequences for type I procollagen in individuals with low bone density. J Bone Miner Res 9: 923-932, 1994.
38. Superti-Furga A, Pistone F, Romano C, and Steinmann B. Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. J Med Genet 26: 358-362, 1989.
39. Superti-Furga A, Raghunath M, Pistone FM, Romano C, and Steinmann B. An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta. Connect Tissue Res 29: 31-40, 1993.
40. Tanner J. Physical growth and development. In: Textbook of Pediatrics, edited by Forfar JO and Arnell CC. Edinburgh, Scotland: Churchill Livingstone, 1978, p. 249-303.
41. Uitterlinden AG, Burger H, Huang Q, Yue F, McGuigan FE, Grant SF, Hofman A, van Leeuwen JP, Pols HA, and Ralston SH. Relation of alleles of the collagen type I α1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 338: 1016-1021, 1998.
42. Zhuang J, Tromp G, Kuivaniemi H, Nakayasu K, and Prockop DJ. Deletion of 19 base pairs in intron 13 of the gene for the pro α2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta. Hum Genet 91: 210-216, 1993.