Association of Collagen Type α1 Sp1 Polymorphism with Intervertebral Disc Degeneration in Han Elderly People

LIN Peng, FU Qiao

Abstract

To examine the association of collagen type I α1 (COLIA1) Sp1 polymorphism with intervertebral disc degeneration in Han elderly people. Methods?The objects in this case-control study were the Han elderly people over 65-years-old. There were totally 375 intervertebral disc degeneration patients and 118 healthy controls matched in demographic characteristics recruited．The guanine (G) to thymidine (T) polymorphism in the first intron of COLIA1 gene was detected by PCR. Detected the difference of genotype frequency distribution and allele frequency between case group and the control group. Results?Hardy-Weinberg equilibrium was analyzed in both case and control group．Sp1 site was genotyped，and the polymorphisms distributed in line with Hardy-Weinberg equilibrium either in case or control groups．There was significant difference in genotype frequency of Sp1 between control group and case group. GG: 264(70.4%)/82(69.5%), GT: 102(27.2%)/26(22.0%) and TT: 9(2.4%)/10(8.5%), respectively; (χ2 =9.527,P=0.009). No significant difference in allele frequencies of SNP was found between case group and control group. G: 630(84.0%)/190(80.5%) and T: 120(16.0%)/46(19.5%), respectively. (χ2=1.563,P=0.211). Conclusion?COLIA1 Sp1 polymorphism may be a genetic risk factor related to intervertebral disc degeneration in Han elderly people.

 

Keywords: COLIA1 gene, Gene polymorphism, Degenerative disc disease 

 

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References


Grant SF, Reid DM. Blake G. et al. Reduced bone density and osteoporosis associated with a polymorphic Spl binding site in the collagen type 1 alpha 1 gene. Nat Genet .1996; 14(2);203- 205.

Roux C, Dougados M. Abel L, et al. Association of a polymorphism in the collagen I alpha 1 gene with osteoporosis in French women. Arthritis Rheum. 1998;41 (1): 187-188.

Uitterlinden AG, Burger H, Huang Q, et al. Relation of alleles of the collagen type 1 alphal gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med, 1998;338(15); 1016-1021.

Sainz J, Van Tornout JM, Sayre J, et al. Association of collagen type 1 alphal gene polymorphism with bone density in early childhood. J Clin Endocrinol Metab, 1999; 84 (3); 853- 855.

Keen RW, Woodford-Richens KL, Grant SF. et al. Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover. Arthritis Rheum, 1999;42(2); 285-290.

Harris SS, Patel MS, Cole DE, et al. Associations of the collagen type I alphal Spl polymorphism with five-year rates of bone loss in older adults. Calcif Tissue Int.2000;66(4) ;268- 271.

Kann P, Bergink AP, Fang Y, et al. The collagen I al SP1 polymorphism is associated with differences in ultrasound transmission velocity in the calcaneus in postmenopausal women. Calcif Tissue Int ,2002; 70(6);450-456.

Langdahl BL, Ralston SH, Grant SF, et al. An Spl binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res, 1998; 13 (9):1384-1389.

Weichetova M, Stepan JJ, Michalska D, et al. COLIAl polymorphism contributes to bone mineral density to assess prevalent wrist fractures. Bone,2000;26(3):287-290.

Plhrmarm С, Metzdoff A. Zanetti M. Magnetic resonance classification of lumbar intervertebral disc degeneration. Spine. 2001;26(17):1873-1878.

Radwnou F, Lee TS. Zhou RH. et al. Intervertebral disc degeneration:the role of the mitochondrial pathway in annulus fibrosis cell apoptosis induced by overload. Am J Patrol.2004; 164(3):915-924.

Videman T, Gibbons LE. Battie MC, el at. The relative roles of intragenic polymorphisms of the vitamin D receptor gene in lumbar spine degeneration and bone density. Spine, 2001; 26 (3) :Е7-Е12.

Kawaguchi Y, Kanamori M. Ishihara H. et at. The association of lumbar disc disease with vitamin-D receptor gene polymorphism. J Bone Joint Surg Am, 2002; 84 ( 11 ): 2022- 2028.

YamadaY. Okuizumi H. Miyauchi A. et al. Association of transforming growth factor betal genotype with spinal osteophytosis in Japanese women. Arthritis Rheum. 2000; 43 (2):452-460.

Zajickova K. Hill M. Vankova M. et al. Low-density lipoprotein receptor-related protein 5 and vitamin Г) receptor gene polymorphisms in relation to vitamin D levels in menopause. Clin Chem Lab Med.2006;44(9); 1066-1069.

Graafmans WC, Lips P. Ooms ME. et al. The effect of vitamin D supplementation on the bone mineral density of the femoral neck is associated with vitamin D receptor genotype. J Bone Miner Res,1997; 12(8): 1241-1245.

Sal men T. Heikkinen AM. Mahonen A. et al. Early postmenopausal bone loss is associated with Pvu Ц estrogen receptor gene polymorphism in Finnish women: effect of hormone replacement therapy. J Bone Miner Res,2000; 15(2): 315-321.

Yamada Y, Hosoi T, Makimoto F. et al. Transforming growth factor beta-1 gene polymorphism and bone mineral density in Japanese adolescents. Am J Med. 1999; 106(4) ;477- 479.

Pluijm SMF, van Essen HW. Bravenboer N. et al. Collagen type I al Spl polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women. Ann Rheum Dis. 2004;63(3): 71-77.

Mann V. Hobson EE. Li B. et al. A COLIA1 Spl binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest.2001; 107(7) :899-907.

Aigner T, Dietz U, Stoss H, et al. Differential expression of collagen types I . II . Ill . and X in human osteophytes. Lab Invest ,1995; 73 (2): 236-24 3.


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