Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk

Biochemical and Biophysical Research Communications

Volumn 384, Issue 4, 2009, Pages 501-505

  Lindahl, Katarina ^a   Rubin, Carl Johan ^a   Brändström, Helena ^a   Karlsson, Magnus K ^b   Holmberg, Anna ^b   Ohlsson, Claes ^c   Mellström, Dan ^c   Orwoll, Eric ^d   Mallmin, Hans ^a   Kindmark, Andreas ^a   Ljunggren, Östen ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

BMD; COL1A2; Collagen; Osteoporosis; Polymorphism; rs42524; SNP; Stroke

Indexed keywords

COLLAGEN TYPE 1; DNA;

ARTICLE; BONE DENSITY; BONE MINERAL; COHORT ANALYSIS; COL1A2 GENE; DISEASE ASSOCIATION; DUAL ENERGY X RAY ABSORPTIOMETRY; GENE; GENETIC VARIABILITY; GENOTYPE; HEART INFARCTION; HIP; HONG KONG; HUMAN; LUMBAR SPINE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; SELF REPORT; SINGLE NUCLEOTIDE POLYMORPHISM; STROKE; SWEDEN; UNITED STATES;

AGED; BONE DENSITY; COHORT STUDIES; COLLAGEN; HETEROZYGOTE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; STROKE; SWEDEN;

EID: 65649125634     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2009.05.006     Document Type: Article

References (31)

1. Gueguen R., Jouanny P., Guillemin F., Kuntz C., Pourel J., and Siest G. Segregation analysis and variance components analysis of bone mineral density in healthy families. J. Bone Miner. Res. 10 (1995) 2017-2022
2. Arden N.K., Baker J., Hogg C., Baan K., and Spector T.D. The heritability of bone mineral density, ultrasound of the calcaneus and hip axis length: a study of postmenopausal twins. J. Bone Miner. Res. 11 (1996) 530-534
3. Christian J.C., Yu P.L., Slemenda C.W., and Johnston Jr. C.C. Heritability of bone mass: a longitudinal study in aging male twins. Am. J. Hum. Genet. 44 (1989) 429-433
4. Pocock N.A., Eisman J.A., Hopper J.L., Yeates M.G., Sambrook P.N., and Eberl S. Genetic determinants of bone mass in adults. A twin study. J. Clin. Invest. 80 (1987) 706-710
5. Slemenda C.W., Christian J.C., Williams C.J., Norton J.A., and Johnston Jr. C.C. Genetic determinants of bone mass in adult women: a reevaluation of the twin model and the potential importance of gene interaction on heritability estimates. J. Bone Miner. Res. 6 (1991) 561-567
6. Peacock M., Koller D.L., Fishburn T., Krishnan S., Lai D., Hui S., Johnston C.C., Foroud T., and Econs M.J. Sex-specific and non-sex-specific quantitative trait loci contribute to normal variation in bone mineral density in men. J. Clin. Endocrinol. Metab. 90 (2005) 3060-3066
7. Xiao P., Shen H., Guo Y.F., Xiong D.H., Liu Y.Z., Liu Y.J., Zhao L.J., Long J.R., Guo Y., Recker R.R., and Deng H.W. Genomic regions identified for BMD in a large sample including epistatic interactions and gender-specific effects. J. Bone Miner. Res. 21 (2006) 1536-1544
8. Tajima O., Ashizawa N., Ishii T., Amagai H., Mashimo T., Liu L.J., Saitoh S., Tokuyama K., and Suzuki M. Interaction of the effects between vitamin D receptor polymorphism and exercise training on bone metabolism. J. Appl. Physiol. 88 (2000) 1271-1276
9. Prockop D.J., and Kivirikko K.I. Collagens: molecular biology, diseases, and potentials for therapy. Annu. Rev. Biochem. 64 (1995) 403-434
10. Mann V., and Ralston S.H. Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone 32 (2003) 711-717
11. Nguyen T.V., Esteban L.M., White C.P., Grant S.F., Center J.R., Gardiner E.M., and Eisman J.A. Contribution of the collagen I alpha1 and vitamin D receptor genes to the risk of hip fracture in elderly women. J. Clin. Endocrinol. Metab. 90 (2005) 6575-6579
12. Stewart T.L., Roschger P., Misof B.M., Mann V., Fratzl P., Klaushofer K., Aspden R., and Ralston S.H. Association of COLIA1 Sp1 alleles with defective bone nodule formation in vitro and abnormal bone mineralization in vivo. Calcif. Tissue Int. 77 (2005) 113-118
13. Gerdhem P., Brandstrom H., Stiger F., Obrant K., Melhus H., Ljunggren O., Kindmark A., and Akesson K. Association of the collagen type 1 (COL1A 1) Sp1 binding site polymorphism to femoral neck bone mineral density and wrist fracture in 1044 elderly Swedish women. Calcif. Tissue Int. 74 (2004) 264-269
14. Yoneyama T., Kasuya H., Onda H., Akagawa H., Hashiguchi K., Nakajima T., Hori T., and Inoue I. Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. Stroke 35 (2004) 443-448
15. Korkko J., Ala-Kokko L., De Paepe A., Nuytinck L., Earley J., and Prockop D.J. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am. J. Hum. Genet. 62 (1998) 98-110
16. T.M. Hsu, X. Chen, S. Duan, R.D. Miller, P.Y. Kwok, Universal SNP genotyping assay with fluorescence polarization detection, Biotechniques 31 (2001) 560, 562, 564-568, passim.
17. Chen X., Levine L., and Kwok P.Y. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 9 (1999) 492-498
18. V. Van Heyningen, P.L. Yeyati, Mechanisms of non-Mendelian inheritance in genetic disease, Hum. Mol. Genet. 13 Spec No. 2 (2004) R225--R233.
19. Morissette J., Clepet C., Moisan S., Dubois S., Winstall E., Vermeeren D., Nguyen T.D., Polansky J.R., Cote G., Anctil J.L., Amyot M., Plante M., Falardeau P., and Raymond V. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat. Genet. 19 (1998) 319-321
20. Cabral W.A., Makareeva E., Letocha A.D., Scribanu N., Fertala A., Steplewski A., Keene D.R., Persikov A.V., Leikin S., and Marini J.C. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. Hum. Mutat. 28 (2007) 396-405
21. Malfait F., Symoens S., De Backer J., Hermanns-Le T., Sakalihasan N., Lapiere C.M., Coucke P., and De Paepe A. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum. Mutat. 28 (2007) 387-395
22. Cepollaro C., Gonnelli S., Pondrelli C., Montagnani A., Martini S., Bruni D., and Gennari C. Osteogenesis imperfecta: bone turnover, bone density, and ultrasound parameters. Calcif. Tissue Int. 65 (1999) 129-132
23. Boyde A., Travers R., Glorieux F.H., and Jones S.J. The mineralization density of iliac crest bone from children with osteogenesis imperfecta. Calcif. Tissue Int. 64 (1999) 185-190
24. Vetter U., Eanes E.D., Kopp J.B., Termine J.D., and Robey P.G. Changes in apatite crystal size in bones of patients with osteogenesis imperfecta. Calcif. Tissue Int. 49 (1991) 248-250
25. Miller E., Delos D., Baldini T., Wright T.M., and Pleshko Camacho N. Abnormal mineral-matrix interactions are a significant contributor to fragility in oim/oim bone. Calcif. Tissue Int. 81 (2007) 206-214
26. Sarathchandra P., Kayser M.V., and Ali S.Y. Abnormal mineral composition of osteogenesis imperfecta bone as determined by electron probe X-ray microanalysis on conventional and cryosections. Calcif. Tissue Int. 65 (1999) 11-15
27. Di Lullo G.A., Sweeney S.M., Korkko J., Ala-Kokko L., and San Antonio J.D. Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen. J. Biol. Chem. 277 (2002) 4223-4231
28. Moriguchi M., Yamada M., and Yanagisawa T. Immunocytochemistry of keratan sulfate proteoglycan and dermatan sulfate proteoglycan in porcine tooth-germ dentin. Anat. Sci. Int. 79 (2004) 145-151
29. Viguet-Carrin S., Garnero P., and Delmas P.D. The role of collagen in bone strength. Osteoporos Int. 17 (2006) 319-336
30. Uitterlinden A.G., Burger H., Huang Q., Yue F., McGuigan F.E., Grant S.F., Hofman A., van Leeuwen J.P., Pols H.A., and Ralston S.H. Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N. Engl. J. Med. 338 (1998) 1016-1021
31. Liu P.Y., Lu Y., Long J.R., Xu F.H., Shen H., Recker R.R., and Deng H.W. Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians. J. Med. Genet. 41 (2004) 752-757