Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: The GENOMOS study

Langdahl, Bente; Uitterlinden, André G.; Ralston, Stuart H.; Trikalinos, Thomas A; Balcells, Susana; Brandi, Maria Luisa; Scollen, Serena; Lips, Paul; Lorenc, Roman; Obermayer–Pietsch, Barbara; Reid, David M.; Bruges-Armas, Jácome; Arp, Pascal P.; Bassiti, Amelia; Bustamante, Mariona; Husted, Lise Bjerre; Carey, A.; Cano, R. Pérez; Dobnig, Harald; Dunning, Alison M.; Fahrleitner‐Pammer, Astrid; Falchetti, Alberto; Karczmarewicz, Elżbieta; Kruk, Marcin; Leeuwen, Johannes P.T.M. van; Masi, Laura; Meurs, Joyce B. J. van; Mangion, Jon; McGuigan, Fiona; Mellibovsky, Leonardo; Mosekilde, Leif; Nogués, Xavier; Pols, Huibert A. P.; Reeve, J.; Renner, Wilfried; Rivadeneira, Fernando; Schoor, Natasja M. van; Ioannidis, John P. A.

doi:10.1016/j.bone.2007.11.007

Cited by 85 publications

(42 citation statements)

References 47 publications

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“…As examples, the frequencies of the -509T and 869C alleles among controls in our study were 0.523 and 0.524, respectivelyvalues similar to those observed in healthy Japanese subjects (Kamiya et al, 2001;Kawaguchi et al, 2003) but higher than those in white subjects (McGuigan et al, 2007;Langdahl et al, 2003Langdahl et al, , 2008. We showed that the genotype distributions of SNP-509C>T and SNP 869T>C in controls are indeed in Hardy-Weinberg equilibrium, suggesting that the genetic structure of our sample is comparable to that of other studies of TGF-β1 polymorphism in OPLL patients.…”

Section: Discussionsupporting

confidence: 87%

“…The T allele of the -509C>T polymorphism has been associated with an increased risk of diseases such as endometriosis, asthma, and breast cancer (Zhang et al, 2010;Huang et al, 2011;Lee et al, 2011). Furthermore, the associations of the -509C>T polymorphism with bone mass or osteoporosis have been investigated, both alone and in combination with 869T>C polymorphism, but have yielded inconsistent or contradictory results (Yamada et al, 2001;Langdahl et al, 2003Langdahl et al, , 2008. The T allele of the -509C>T polymorphism is associated with reduced bone mass in postmenopausal Japanese women (Yamada et al, 2001) and in white men (Langdahl et al, 2008), whereas the T allele is associated with increased BMD in Danish men and women (Langdahl et al, 2003).…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, the associations of the -509C>T polymorphism with bone mass or osteoporosis have been investigated, both alone and in combination with 869T>C polymorphism, but have yielded inconsistent or contradictory results (Yamada et al, 2001;Langdahl et al, 2003Langdahl et al, , 2008. The T allele of the -509C>T polymorphism is associated with reduced bone mass in postmenopausal Japanese women (Yamada et al, 2001) and in white men (Langdahl et al, 2008), whereas the T allele is associated with increased BMD in Danish men and women (Langdahl et al, 2003). Another study has shown no association between the -509C>T polymorphism and BMD or bone loss in a British population (McGuigan et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

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Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients

Han¹,

Ropper²,

Jeon³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Ossification of the posterior longitudinal ligaments (OPLL) has been considered to be associated with abnormalities of bone metabolism, and transforming growth factor-β1 (TGF-β1) has been demonstrated to affect the bone remodeling process. We investigated two SNPs of the TGF-β1 promoter (-509C>T; rs1800469) and exon 1 (869T>C; rs1982073) in 298 Koreans (98 patients with OPLL and 200 control subjects). The promoter SNP -509C>T was determined by PCR and RFLP, and the TaqMan probe assay was used to determine 869T>C polymorphism genotypes. The subjects were divided into OPLL continuous group (continuous type plus mixed type) and OPLL segmental group (segmental and localized type). We also separately analyzed this association according to gender difference. There was no significant difference in genotype distributions of -509C>T and 869T>C polymorphisms of the TGF-β1 gene between OPLL patients and controls. A combined analysis of TGF-β1 -509C>T and 869T>C polymorphisms showed no significant association with OPLL, and a subgroup analysis did not show any significant correlation between the SNP -509C>T or SNP 869T>C and OPLL subgroups. Stratification by gender demonstrated no significant effect. We conclude that promoter region (-509C>T) and exon 1 (869T>C) polymorphisms are not associated with OPLL in the Korean population.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients

Han¹,

Ropper²,

Jeon³

et al. 2013

Genet. Mol. Res.

View full text Add to dashboard Cite

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“…Adding to the evidence that this is an important region in bone regulation, it also overlaps with QTLs linked to areal BMD and cortical area of femur identified in a (F344×LEW)F2 rat cross [6,13]. Of note, this chr 1 locus harbours the osteoporosis candidate genes transforming growth factor beta 1 (TGFB1) and estrogen receptor alfa (ESR1) [36,37].…”

Section: Discussionmentioning

confidence: 69%

Genetic loci for bone architecture determined by three-dimensional CT in crosses with the diabetic GK rat

Lagerholm

Park²,

Luthman³

et al. 2010

Bone

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The F344 rat carries alleles contributing to bone fragility while the GK rat spontaneously develops type-2 diabetes. These characteristics make F344 x GK crosses well suited for the identification of genes related to bone size and allow for future investigation on the association with type-2 diabetes. The aim of this study was to identify quantitative trait loci (QTLs) for bone size phenotypes measured by a new application of three-dimensional computed tomography (3DCT) and to investigate the effects of sex-and reciprocal cross.Tibia from male and female GK and F344 rats, representing the parental, F1 and F2 generations, were examined with 3DCT and analyzed for: total and cortical volumetric BMD, straight and curved length, peri-and endosteal area at mid-shaft. F2 progeny (108 male and 98 female) were genotyped with 192 genome-wide microsatellite markers (average distance 10 cM). Sex-and reciprocal cross-separated QTL analyses were performed for the identification of QTLs linked to 3DCT phenotypes and true interactions were confirmed by likelihood ratio analysis in all F2 animals.Several genome-wide significant QTLs were found in the sex-and reciprocal cross-separated progeny on chromosomes (chr) 1, 3, 4, 9, 10, 14, and 17. Overlapping QTLs for both males and females in the (GK×F344)F2 progeny were located on chr 1 (39-67 cM). This region confirms previously reported pQCT QTLs and overlaps loci for fasting glucose. Sex separated linkage analysis confirmed a male specific QTL on chr 9 (67-82 cM) for endosteal area at the fibula site. Analyses separating the F2 population both by sex and reciprocal cross identified cross specific QTLs on chr 14 (males) and chr 3 and 4 (females). Two loci, chr 4 and 6, are unique to 3DCT and separate from pQCT generated loci.The 3DCT method was highly reproducible and provided high precision measurements of bone size in the rat enabling identification of new sex-and cross-specific loci. The QTLs on chr 1 indicate potential genetic association between bone-related phenotypes and traits affecting type-2 diabetes. The results illustrate the complexity of the genetic architecture of bone size phenotypes, and demonstrate the importance of complementary methods for bone analysis.

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“…2 Different polymorphisms have been described in several genes. 3 Although a large number of association studies have been performed, the individual contribution of these polymorphisms to the pathogenesis of osteoporosis remains to be universally confirmed. 4 The collagen type I α1 (COLIA1) Sp1 binding site polymorphism initially described in 1996 is one of the most widely studied candidate genes for osteoporosis.…”

Section: Introductionmentioning

confidence: 99%

Association of Collagen Type I α1 (COLIA1) Sp1 Polymorphism with Osteoporotic Fracture in Caucasian Post-menopausal Women: a Meta-analysis

Yao

Sun

et al. 2009

J Int Med Res

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Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: The GENOMOS study

Cited by 85 publications

References 47 publications

Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients

Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients

Genetic loci for bone architecture determined by three-dimensional CT in crosses with the diabetic GK rat

Association of Collagen Type I α1 (COLIA1) Sp1 Polymorphism with Osteoporotic Fracture in Caucasian Post-menopausal Women: a Meta-analysis

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