Abstract
Polymerase chain reaction was used to amplify across variable restriction sites of the COLI A1 and COLI A2 genes that encode the alpha 1 and 2 subunits of type I collagen. The relationship between these polymorphisms and bone mineral density (BMD) was studied in 683 Chinese men and women. In 100 men and women, COLI A1 Sp1 polymorphism was not found, which was consistent with other previous studies in Asian populations. However a statistically significant relationship was observed between COLI A2 Eco R1 and Puv II genotypes among the Chinese men studied. The mean BMD was consistently lower in men of the EE and PP genotype (P < 0.05 by analysis of variance [ANOVA]) than in men of the ee and pp genotypes. However, no association between BMD and the Eco R1 or Puv II genotypes was observed in Chinese women (P > 0.05 by ANOVA). We conclude that the COLI Al Sp1 binding site is absent in Hong Kong Chinese, whereas the COLI A2 Eco R1 and Puv II genetic polymorphisms may be associated with the BMD of elderly Chinese men.
Similar content being viewed by others
References
JA Kanis LJ Melton SuffixIII C Christiansen CC Johnson N Khaltaev (1994) ArticleTitleThe diagnosis of osteoporosis. J Bone Miner Res 9 1137–1141 Occurrence Handle1:STN:280:ByqD28jgtFY%3D Occurrence Handle7976495
JC Christian PL Yu CW Slemenda CC Johnson SuffixJr (1989) ArticleTitleHeritability of bone mass: a longitudinal study in aging male twins. Am J Hum Genet 44 429–433 Occurrence Handle1:STN:280:BiaC3s3lvFE%3D Occurrence Handle2916585
J Dequeker J Nijs A Verstraeten P Geusens G Gevers (1987) ArticleTitleGenetic determinants of bone mineral content at the spine and radius: a twin study. Bone 8 207–209 Occurrence Handle10.1016/8756-3282(87)90166-9 Occurrence Handle1:STN:280:BieC1czotFY%3D Occurrence Handle3446256
R Gueguen P Jouanny F Guillemin C Kuntz J Pourel et al. (1995) ArticleTitleSegregation analysis and variance components analysis of bone mineral density in healthy families. J Bone Miner Res 12 2017–2022
PH Byers RD Steiner (1992) ArticleTitleOsteogenesis imperfecta. Annu Rev Med 43 269–282 Occurrence Handle10.1146/annurev.me.43.020192.001413 Occurrence Handle1:CAS:528:DyaK38XkvVOmtb4%3D Occurrence Handle1580589
Z Efstathiadou A Tsatsoulis JP Ioannidis (2001) ArticleTitleAssociation of collagen I ∝ 1 Sp1 polymorphism with the risk of prevalent fractures: a meta-analysis. J Bone Miner Res 16 1586–1592 Occurrence Handle1:CAS:528:DC%2BD3MXmvV2qs7c%3D Occurrence Handle11547828
L Yaich WD Dupont DR Cavener FF Parl (1992) ArticleTitleAnalysis of the Puv II restriction fragment-length polymorphism and exon structure of the estrogen receptor gene in breast cancer and peripheral blood. Cancer Res 52 77–83 Occurrence Handle1:CAS:528:DyaK38Xls1Cqug%3D%3D Occurrence Handle1345763
DM Smith WE Nance KW Kang JC Christian Jr Johnson CC (1973) ArticleTitleGenetic factors in determining bone mass. J Clin Invest 52 2800–2808 Occurrence Handle1:STN:280:CSuD387msVA%3D Occurrence Handle4795916
NA Pocock JA Eisman JL Hopper MG Yeates PN Sambrook et al. (1987) ArticleTitleGenetic determinants of bone mass in adults: a twin study. J Clin Invest 80 706–710 Occurrence Handle1:STN:280:BiiA3cfotVM%3D Occurrence Handle3624485
RA Evans GM Marel EK Lancaster S Kos M Evans et al. (1988) ArticleTitleBone mass is low in relatives of osteoporotic patients. Ann Intern Med 109 870–873 Occurrence Handle1:STN:280:BiaD2cfmslw%3D Occurrence Handle3190041
E Seeman JL Hopper LA Bach et al. (1989) ArticleTitleReduced bone mass in daughters of women with osteoporosis. N Engl J Med 320 554–558 Occurrence Handle1:STN:280:BiaC38jksVY%3D Occurrence Handle2915666
SB Soroko E Barrett-Connor SL Edelstein D Kritz-Silverstein (1994) ArticleTitleFamily history of osteoporosis and bone mineral density at the axial skeleton: the Rancho Bernardo Study. J Bone Miner Res 9 761–769 Occurrence Handle1:STN:280:ByuA28%2FnslE%3D Occurrence Handle8079652
P Jouanny F Guillemin C Kuntz C Jeandel J Pourel (1995) ArticleTitleEnvironmental and genetic factors affecting bone mass: similarity of bone density among members of healthy families. Arthritis Rheum 38 61–67 Occurrence Handle1:STN:280:ByqC3MfktVQ%3D Occurrence Handle7818574
SL Hui CW Slemenda CC Johnson SuffixJr (1989) ArticleTitleBaseline measurement of bone mass predicts fracture in white women. Ann Intern Med 111 355–361 Occurrence Handle1:STN:280:BiaA2cbptVc%3D Occurrence Handle2764403
SR Cummings DM Black MC Nevitt et al. (1993) ArticleTitleBone density at various sites for prediction of hip fractures. Lancet 341 72–75 Occurrence Handle10.1016/0140-6736(93)92555-8 Occurrence Handle1:STN:280:ByyC3MnltFY%3D Occurrence Handle8093403
KO Han IG Moon CS Hwang JT Choi HK Yoon et al. (1999) ArticleTitleLack of an intronic Sp1 binding-site polymorphism at the collagen type I ∝ 1 gene in healthy Korean women. Bone 24 135–137 Occurrence Handle10.1016/S8756-3282(98)00155-0 Occurrence Handle1:CAS:528:DyaK1MXhtVejt70%3D Occurrence Handle9951783
T Nakajima N Ota Y Shirai A Hata H Yoshida et al. (1999) ArticleTitleEthnic difference in contribution of Sp1 site variation of COLI A1 gene in genetic predisposition to osteoporosis. Calcif Tissue Int 65 352–353 Occurrence Handle10.1007/s002239900711 Occurrence Handle1:CAS:528:DyaK1MXnsV2nu74%3D Occurrence Handle10541758
I Lambrinoudaki AW Kung (2001) ArticleTitleAbsence of high risk “s” allele associated with osteoporosis at the intronic SP1 binding-site of collagen I alpha 1 gene in Southern Chinese. J Endocrinol Invest 24 499–502 Occurrence Handle1:CAS:528:DC%2BD3MXmtlekuro%3D Occurrence Handle11508783
M Weichetova JJ Stepan D Michalska T Haas HA Pols et al. (2000) ArticleTitleCOLIA1 polymorphism contributes to BMD to assess prevalent wrist fractures. Bone 26 287–290 Occurrence Handle10.1016/S8756-3282(99)00280-X Occurrence Handle10710003
J Sainz JM Tornout ParticleVan J Sayre F Kaufman V Gilsanz (1999) ArticleTitleAssociation of collagen type 1 alpha1 gene polymorphism with bone density in early childhood. J Clin Endocrinol Metab 84 853–855 Occurrence Handle10.1210/jc.84.3.853 Occurrence Handle1:CAS:528:DyaK1MXhvFegtLs%3D Occurrence Handle10084560
FEA McGuigan DM Reid SH Ralston (1999) ArticleTitleSusceptibility to osteoporotic fracture is determined by allelic variation at the Sp1 site, rather than other polymorphic sites, at the COLIA1 locus. Osteoporos Int 15 338–342
RW Keen KL Woodford-Richens SFA Grant SH Ralston JS Lanchbury et al. (1999) ArticleTitlePolymorphism at the type I collagen COLIA1 locus is associated with reduced BMD, increased fracture risk and increased collagen turnover. Arthritis Rheum 42 285–290 Occurrence Handle10.1002/1529-0131(199902)42:2<285::AID-ANR10>3.0.CO;2-3 Occurrence Handle1:CAS:528:DyaK1MXhtlars7Y%3D Occurrence Handle10025922
G Hampson C Evans RJ Petitt WD Evans SJ Woodhead et al. (1998) ArticleTitleBMD, collagen type 1 alpha 1 genotypes and bone turnover in premenopausal women with diabetes mellitus. Diabetologia 41 1314–1320 Occurrence Handle10.1007/s001250051071 Occurrence Handle1:CAS:528:DyaK1cXntVers7c%3D Occurrence Handle9833939
BL Langdahl SH Ralston SFA Grant EF Eriksen (1998) ArticleTitleAn Sp1 binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in men and women. J Bone Miner Res 13 1384–1389 Occurrence Handle1:CAS:528:DyaK1cXmtVeqs7c%3D Occurrence Handle9738510
AG Uitterlinden H Burger Q Huang F Yue FEA McGuigan et al. (1998) ArticleTitleRelation of alleles of the collagen type I ∝ I gene to bone density and risk of osteoporotic fractures in postmenopausal women. N Engl J Med 338 1016–1022 Occurrence Handle10.1056/NEJM199804093381502 Occurrence Handle1:STN:280:DyaK1c7otFOqug%3D%3D Occurrence Handle9535665
P Garnero O Borel SFA Grant SH Ralston PD Delmas (1998) ArticleTitleCollagen I ∝ I polymorphism, bone mass and bone turnover in healthy French pre-menopausal women: the OFELY Study. J Bone Miner Res 13 813–881 Occurrence Handle1:CAS:528:DyaK1cXjsVaqurk%3D Occurrence Handle9610745
C Roux M Dougados L Abel G Mercier G Lucotte (1998) ArticleTitleAssociation of a polymorphism in the collagen I ∝ I gene with osteoporosis in French women. Arthritis Rheum 41 187–188 Occurrence Handle10.1002/1529-0131(199801)41:1<187::AID-ART33>3.3.CO;2-H Occurrence Handle1:STN:280:DyaK1c%2Fptl2rsg%3D%3D Occurrence Handle9433891
SFA Grant DM Reid G Blake R Herd I Fogelman et al. (1996) ArticleTitleReduced bone density and osteoporosis associated with a polymorphic Sp1 site in the collagen type I alpha 1 gene. Nat Genet 14 203–205 Occurrence Handle1:CAS:528:DyaK28XmtVKntb4%3D Occurrence Handle8841196
S Beavan A Prentice B Dibba L Yan C Cooper et al. (1998) ArticleTitlePolymorphism of the collagen type I (alpha) 1 gene and ethnic differences in hip-fracture rates. N Engl J Med 339 351–352 Occurrence Handle10.1056/NEJM199807303390517 Occurrence Handle1:STN:280:DyaK1czjsF2qsA%3D%3D Occurrence Handle9696653
Acknowledgments
We are very grateful to Professor Stuart H. Ralston from the Department of Medicine and Therapeutics, University of Aberbeen, UK, for validating our COLI A1 studies.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Lau, E.M.C., Choy, D.T.K., Li, M. et al. The Relationship Between COLI A1 Polymorphisms (Sp 1) and COLI A2 Polymorphisms (Eco R1 and Puv II) with Bone Mineral Density in Chinese Men and Women. Calcif Tissue Int 75, 133–137 (2004). https://doi.org/10.1007/s00223-003-0008-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00223-003-0008-6