Open Access

Effects of SNPs in the Col1a1 and Methylenetetrahydrofolate Reductase Genes on BMD in Postmenopausal Women in Malta

Huang QY, Recker RR, Deng HW. Searching for osteoporosis genes in the post-genome era: progress and challenges. Osteoporos Int 2003; 14(9): 701-715.10.1007/s00198-003-1445-9Search in Google Scholar

Liu YZ, Liu YJ, Recker RR, Deng HW. Molecular studies of identification of genes for osteoporosis: the 2002 update. J Endocrinol 2003; 177(2): 147-196.10.1677/joe.0.1770147Search in Google Scholar

Zmuda JM, Cauley JA, Ferrell RE. Molecular epidemiology of vitamin D receptor gene variants. Endocrinol Rev 2000; 22(2): 203-217.10.1093/oxfordjournals.epirev.a018033Search in Google Scholar

Ionnidis JPA, Stavrou I, Trikalinos TA, Zois C, Brandi ML, Gennari L, Albagha O, Ralston SH, Tsatsoulis A. Association of polymorphisms of the estrogen receptor α gene with bone mineral density and fracture risk in women: a meta-analysis. J Bone Miner Res 2002; 17(11): 2048-2060.10.1359/jbmr.2002.17.11.2048Search in Google Scholar

Urano T, Shiraki M, Ezura Y, Fujita M, Sekine E, Hoshino S, Hosoi T, Orimo H, Emi M, Ouchi Y, Inoue S. Association of a single nucleotide polymorphism in low density lipoprotein receptorrelated protein 5 gene with bone mineral density. J Bone Miner Metab 2004; 22(4): 341-345.10.1007/s00774-003-0492-9Search in Google Scholar

Langdahl BL, Carstens M, Stenkjaer L, Eriksen EF. Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures. J Bone Miner Res 2002; 17(7): 1245-1255.10.1359/jbmr.2002.17.7.1245Search in Google Scholar

Chung HW, Seo JS, Hur SE, Kim HL, Kim JY, Jung JH, Kim LH, Park BL, Shin HD. Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women. J Hum Genet 2003; 48(5): 243-248.10.1007/s10038-003-0020-8Search in Google Scholar

Langdahl BL, Carstens M, Stenkjaer L, Eriksen EF. Polymorphisms in the transforming growth factor β1 gene and osteoporosis. Bone 2003; 32(3): 297-310.10.1016/S8756-3282(02)00971-7Search in Google Scholar

Kim JG, Roh KR, Lee JY. The relationship among serum insulin-like growth factor-I, insulinlike growth factor-I gene polymorphism, and bone mineral density in postmenopausal women in Korea. Am J Obstet Gynecol 2002; 186(3): 345-350.10.1067/mob.2002.12048311904589Search in Google Scholar

Styrkarsdottir U, Cazier JB, Kong A, Rolfsson O, Larsen H, Bjarnadottir E, Johannsdottir VD, Sigurdadottir MS, Bagger Y, Christiansen C, Reynisdottir I, Grant SFA, Jonasson K, Frigge ML, Gulcher JR, Sigurdsson G, Stefansson K. Linkage of osteoporosis to chromosome 20p12 and association to BMP2. PLoS Biol 2003; 1(1): 1-10.10.1371/journal.pbio.000006927002014691541Search in Google Scholar

Grant FA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the Collagen type 1 α1 gene. Nat Genet 1996; 14(2): 203-205.10.1038/ng1096-203Search in Google Scholar

Jorgensen HL, Madsen JS, Madsen B, Saleh MMA, Abrahamsen B, Fenger M, Lauritzen JB. Association of a common allelic polymorphism (C677T) in the methylene tetrahydrofolate reductase gene with reduced risk of osteoporotic fractures. A case control study in Danish postmenopausal women. Calcif Tissue Int 2002; 71(5): 386-392.Search in Google Scholar

Spotila LD, Rodriguez H, Koch M, Tenenhouse HS, Tenenhouse A, Li H, Devoto M. Association analysis of bone mineral density and single nucleotide polymorphisms in two candidate genes on chromosome 1p36. Calcif Tissue Int 2003; 73(2): 140-146.10.1007/s00223-002-2079-1Search in Google Scholar

Dalgleish R. The human type I collagen mutation database. Nucleic Acids Res 1997; 25(1): 181-187.10.1093/nar/25.1.181Search in Google Scholar

Myllyharju J, Kivirikko KI. Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet 2004; 20(1): 33-43.10.1016/j.tig.2003.11.004Search in Google Scholar

MacDonald HM, McGuigan FA, New SA, Campbell MK, Golden MHN, Ralston SH, Reid DM. COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss. J Bone Miner Res 2001; 16(9): 1634-1641.10.1359/jbmr.2001.16.9.1634Search in Google Scholar

Mann V, Ralston SH. Meta-analysis of COLIA1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone 2003; 32(6): 711-717.10.1016/S8756-3282(03)00087-5Search in Google Scholar

Brown MA, Haughton MA, Grant SFA, Gunnell AS, Henderson NK, Eisman JA. Genetic control of bone density and turnover: role of the Collagen 1 α 1, oestrogen receptor, and vitamin D receptor genes. J Bone Miner Res 2001; 16(4): 758-764.10.1359/jbmr.2001.16.4.758Search in Google Scholar

Mann V, Hobson EE, Li B, Stewart TL, Grant SFA, Robins SP, Aspden RM, Ralston SH. A COLIA1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001; 107(7): 899-907.10.1172/JCI10347Search in Google Scholar

Bernad M, Martinez ME, Escalona M, Gonzalez ML, Gonzalez C, Garces MV, DelCampo MT, Mola EM, Madero R, Carreno L. Polymorphism in the type I Collagen (COLIA1) gene and risk fractures in postmenopausal women. Bone 2002; 30(1): 223-228.10.1016/S8756-3282(01)00639-1Search in Google Scholar

Aerssens J, Dequeker J, Peeters J, Breemans S, Broos P, Boonen S. Polymorphisms of the VDR, ER and COLIA1 genes and osteoporotic hip fracture in elderly postmenopausal women. Osteoporos Int 2000; 11(7): 583-591.10.1007/s00198007007911069192Search in Google Scholar

Garcia-Giralt N, Nogues X, Enjuanes A, Puig J, Mellibovski L, Bay-Jensen A, Carreras R, Balcells S, Diez-Perez A, Grinberg D. Two new single nucleotide polymorphisms in the COLIA1 upstream regulatory region and their relationship to bone mineral density. J Bone Miner Res 2002; 17(3): 384-393.10.1359/jbmr.2002.17.3.384Search in Google Scholar

Lubec B, Fang-Kircher S, Lubec T, Blom HJ, Boers GH. Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria. Biochim Biophys Acta 1996; 1315(3): 159-162.10.1016/0925-4439(95)00119-0Search in Google Scholar

McLean RR, Karasik D, Selhub J, Tucker KL, Ordovas JM, Russo GT, Cupples LA, Jacques PF, Kiel DP. Association of a common polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene with bone phenotypes depends on plasma folate status. J Bone Miner Res 2003; 19(3): 410-418.10.1359/JBMR.0301261Search in Google Scholar

Kang SS, Wong PW, Zhou JM, Sora J, Lessick M, Ruggie N, Grcevich G. Thermolabile methylenetetrahydrofolate reductase in patients with coronary artery disease. Metabolism 1988; 37(7): 611-613.10.1016/0026-0495(88)90076-5Search in Google Scholar

Van der Put NMJ, Gabreels F, Stevens EMB, Smeitink JAM, Trijbels FJM, Eskes TKAB, Van den Heuvel LP, Blom HJ. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects? Am J Hum Genet 1998; 62(5): 1044-1051.10.1086/30182513770829545395Search in Google Scholar

Miyao M, Morita H, Kurihara H, Inoue S, Hoshino S, Shiraki M, Yazaki Y, Ouchi Y. Association of methylenetetrahydrofolate reductase (MTHFR) polymorphism with bone mineral density in postmenopausal Japanese women. Calcif Tissue Int 2000; 66(3): 190-194.10.1007/s00223001003810666493Search in Google Scholar

Devoto M, Shimoya K, Caminis J, Ott J, Tenenhouse A, Whyte MP, Sereda L, Hall S, Considine E, Williams CJ, Tromp G, Kuivaniemi H, Ala-Kokko L, Prockop DJ, Spotila LD. First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q. Eur J Hum Genet 1998; 6(2): 151-157.10.1038/sj.ejhg.52001699781060Search in Google Scholar

Devoto M, Specchia C, Li HH, Caminis J, Tenenhouse A, Rodriguez H, Spotila LD. Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36. Hum Mol Genet 2001; 10(21): 2447-2452.10.1093/hmg/10.21.244711689491Search in Google Scholar

Wilson SG, Reed PW, Bansal A, Chiano M, Lindersson M, Langdown M, Prince RL, Thompson D, Thompson E, Bailey M, Kleyn PW, Sambrook P, Shi MM, Spector TD. Comparison of genome screens for two independent cohorts provides replication of suggestive linkage of bone mineral density to 3p21 and 1p36. Am J Hum Genet 2003; 72(1): 144-155.10.1086/34581937861912478480Search in Google Scholar

Kanis JA, Melton LJ, Christiansen C, Johnston CC, Khaltaev N. The diagnosis of osteoporosis. J Bone Miner Res 1994; 9(8): 1137-1141.10.1002/jbmr.56500908027976495Search in Google Scholar

Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16(3): 1215.10.1093/nar/16.3.1215Search in Google Scholar

Terwillinger JD, Ott J. Linkage disequilibrium between alleles at marker loci. In: Terwillinger JD, OTT J, Eds. Handbook of Human Genetic Linkage. Baltimore: John Hopkins University Press. 1994; 188-198.Search in Google Scholar

Braga V, Mottes M, Mirandola S, Lisi V, Malerba G, Sartori L, Bianchi G, Gatti D, Rossini M, Bianchini D, Adami S. Association of CTR and COL1A1 alleles with BMD values in peri- and postmenopausal women. Calcif Tissue Int 2000; 67(5): 361-366.10.1007/s002230001160Search in Google Scholar

Efstathiadou Z, Kranas V, Ionnnidis JPA, Georgiou I, Tsatsoulis A. The Sp1 COL1A1 gene polymorphism, and not vitamin D receptor or estrogen receptor gene polymorphisms, determines bone mineral density in postmenopausal Greek women. Osteoporos Int 2001; 12(4): 326-331.10.1007/s001980170123Search in Google Scholar

Weichetova M, Stepan JJ, Michalska A, Haas T, Pols HAP, Uitterlinden AG. COL1A1 polymorphism contributes to bone mineral density to assess prevalent wrist fractures. Bone 2000; 26(3): 287-290.10.1016/S8756-3282(99)00280-XSearch in Google Scholar

Gerdhem P, Brandstrom H, Stiger F, Obrant K, Melhus H, Ljunggren O, Kindmark A, Akesson K. Association of Collagen type 1 (COL1A1) Sp1 binding site polymorphism to femoral neck bone mineral density and wrist fracture in 1044 elderly Swedish women. Calcif Tissue Int 2004; 74(3): 264-269.10.1007/s00223-002-2159-214595528Search in Google Scholar

Lei SF, Deng FY, Liu XH, Huang QR, Qin Y, Zhou Q, Jiang DK, Li YM, Mo XY, Liu MY, Chen XD, Wu XS, Shen H, Dvornyk V, Zhao L, Recker RR, Deng HW. Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with populations of different ethnicity. J Bone Miner Metab 2003; 21(1): 34-42.10.1007/s00774030000612491092Search in Google Scholar

Lau EMC, Choy DTK, Li M, Woo J, Chung T, Sham A. The relationship between COL1A1 polymorphisms (Sp1) and COL1A2 polymorphisms (Eco R1 and PvuII) with bone mineral density in Chinese men and women. Calcif Tissue Int 2004; 75(2): 133-137.10.1007/s00223-003-0008-615085313Search in Google Scholar

Garnero P, Borel O, Grant SFA, Ralston SH, Delmas PD. Collagen 1 α1 Sp1 polymorphism, bone mass, and bone turnover in healthy French premenopausal women: the OFELY study. J Bone Miner Metab 1998; 13(5): 813-817.10.1359/jbmr.1998.13.5.8139610745Search in Google Scholar

Qureshi AM, McGuigan FEA, Seymour DG, Hutchison JD, Reid DM, Ralston SH. Association between COL1A1 Sp1 alleles and femoral neck geometry. Calcif Tissue Int 2001; 69(2): 67-72.10.1007/s00223001003711683425Search in Google Scholar

Liu PY, Lu Y, Long JR, Xu FH, Shen H, Recker RR, Deng HW. 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 2004; 41(10): 752-757.10.1136/jmg.2004.019851173560815466008Search in Google Scholar

Garcia-Giralt N, Enjuanes A, Bustamante M, Mellibovsky L, Nogues X, Carreras R, Diez-Perez D, Grinberg D, Balcells S. In vitro functional assays and haplotypes of two COL1A1-promoter SNPs. Bone 2005; 36(5): 902-908.10.1016/j.bone.2004.12.01215814304Search in Google Scholar

Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scararo G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, Lopez MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martinez-Frias ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. Geographical and ethnic variation of the 677 C→T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet 2003; 40(8): 619-625.10.1136/jmg.40.8.619173557112920077Search in Google Scholar

Castro R, Rivera I, Ravasco P, Jakobs C, Blom HJ, Camilo ME, Almeida IT. 5,10 Methylenetetrahydrofolate reductase 677 C→T and 1298 A→C mutations are genetic determinants of elevated homocysteine. Q J Med 2003; 96(4): 297-303.10.1093/qjmed/hcg03912651974Search in Google Scholar

Rosenberg N, Murata M, Ikeda Y, Opare-Sem O, Zivelin A, Geffen E, Selgsohn U. The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese and Africans. Am J Hum Genet 2002; 70(3): 758-762.10.1086/33893238495211781870Search in Google Scholar

Golbahar J, Hamidi A, Aminzadeh MA, Omrani GR. Association of plasma folate, plasmatotal homocysteine, but not methylenetetrahydrofolate reductase C677T polymorphism, with bone mineral density in postmenopausal Iranian women: a crosssectional study. Bone 2004; 35(3): 760-765.10.1016/j.bone.2004.04.01815336613Search in Google Scholar

Abrahamsen B, Medsen JS, Tofteng CL, Stilgren L, Bladbjerg EM, Kristensen SR, Brixen K, Mosekilde L. Are effects of MTHFR (C677T) genotype on BMD confined to women with low folate and riboflavin intake? Analysis of food records from the Danish osteoporosis prevention study. Bone 2005; 36(3): 577-583.10.1016/j.bone.2004.12.01415777680Search in Google Scholar

Friso S, Choi SW, Girelli D, Mason JB, Dolnikowski GG, Bagley PJ, Olivieri O, Jacques PF, Rosenberg IH, Carrocher R, Selhub J. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci USA 2002; 99(8): 5606-5611.10.1073/pnas.06206629912281711929966Search in Google Scholar

ISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other