COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women

Bustamante, Mariona; Nogués, Xavier; Enjuanes, Anna; Elosúa, Roberto; García-Giralt, Natàlia; Pérez-Edo, Lluís; Cáceres, Enrique Cerrillo Martín de; Carreras, Ramón; Mellibovsky, Leonardo; Balcells, Susana; Díez-Pérez, Adolfo; Grinberg, Daniel

doi:10.1007/s00198-006-0225-8

Cited by 52 publications

(48 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There have been several association studies and meta-analyses of this SNP and its relation to BMD variations and vertebral fractures; furthermore, functional studies have shown that the T allele of this polymorphism is associated with effects on DNA binding, gene transcription, protein production, and defects in bone mineralization (Grant et al 1996;Efstathiadou et al 2001;Mann et al 2001;Wynne et al 2002;Mann and Ralston 2003;Stewart et al 2005;Bustamante et al 2007;Yazdanpanah et al 2007;Jin et al 2009Jin et al , 2011.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, another polymorphism in the 5′ flank of COL1A1, rs1107946 (−1997G/T), was significantly associated with lumbar spine BMD and femoral neck BMD in a cohort of Spanish postmenopausal women (Garcia-Giralt et al 2002;Yamada et al 2005). However, the results of studies seeking associations of these polymorphisms with osteoporosis have not always been consistent in different population analyses (Wynne et al 2002;Hubacek et al 2006;Bustamante et al 2007;Yazdanpanah et al 2007;Jin et al 2009Jin et al , 2011.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women

Rojano-Mejía

Coral‐Vázquez

Espinosa

et al. 2011

AGE

View full text Add to dashboard Cite

Osteoporosis is characterized by low bone mineral density (BMD). One of the most important factors that influence BMD is the genetic contribution. The collagen type 1 alpha 1 (COL1A1) and the JAGGED (JAG1) have been investigated in relation to BMD. The aim of this study was to investigate the possible association between two single-nucleotide polymorphisms (SNPs) of COL1A1, their haplotypes, and one SNP of JAG1 with BMD in postmenopausal Mexican-Mestizo women. Seven hundred and fifty unrelated postmenopausal women were included. Risk factors were recorded and BMD was measured in lumbar spine, total hip, and femoral neck by dual-energy X-ray absorptiometry. DNA was obtained from blood leukocytes. Two SNPs in COL1A1 (rs1800012 and rs1107946) and one in JAG1 (rs2273061) were studied. Real-time PCR allelic discrimination was used for genotyping. The differences between the means of the BMDs according to genotype were analyzed with covariance. Deviations from Hardy-Weinberg equilibrium were AGE (2013) , and haplotype analysis of COL1A1 was conducted. Under a dominant model, the rs1800012 polymorphism of the COL1A1 showed an association with BMD of the lumbar spine (P00.021). In addition, analysis of the haplotype of COL1A1 showed that the G-G haplotype presented a higher BMD in lumbar spine. We did not find an association between the s1107946 and rs2273061 polymorphisms of the COL1A1 and JAG1, respectively. Our results suggest that the rs1800012 polymorphism of the COL1A1, in addition to one haplotype, were significantly associated with BMD variation in Mexican-Mestizo postmenopausal women.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women

Rojano-Mejía

Coral‐Vázquez

Espinosa

et al. 2011

AGE

View full text Add to dashboard Cite

show abstract

“…Previously reported single nucleotide polymorphisms (SNPs) have small individual effects and the genetic correlation with the phenotypes is low (9). Therefore, more haplotype and gene-gene interaction cohort studies should be performed for the investigation of the genetic background of OP (5,10,11).…”

Section: Introductionmentioning

confidence: 99%

Single nucleotide polymorphisms in new candidate genes are associated with bone mineral density and fracture risk

Lazáry

Kósa

Tobiás

et al. 2008

European Journal of Endocrinology

View full text Add to dashboard Cite

Objective: Osteoporosis (OP) is a multifactorial disease with high heritability but its exact genetic background is still poorly understood. We examined the effect of 24 single nucleotide polymorphisms (SNPs) located in five genes -alkaline phosphatase, matrix metalloproteinase-2, tissue inhibitor of metalloproteases-2 (TIMP2), fibroblast growth factor receptor-1 (FGFR1), and fatty acid-binding protein-3 (FABP3) -previously not associated with OP. Design: We performed a genotype-phenotype association study at a university hospital. Methods: A total of 360 Hungarian postmenopausal women were involved in the study. Bone mineral density (BMD) was determined at spine, hip, and distal radius. Genomic DNA was extracted from venous blood samples and a high-throughput genotyping method based on single-based primer extension was applied for allelic discrimination. Robust statistical tools were utilized for multiplex data analysis. Results: SNP rs6996321 in FGFR1 was significantly related to spine BMD (PZ0.002) and rs10914367 in FABP3 was associated with hip BMD (PZ0.028). Non-vertebral fracture risk was significantly increased in carriers of ' A' allele of rs9900972 in TIMP2 (odds ratioZ2.06, PZ0.0187). We could also identify validated gene-gene interactions significantly affecting BMD and fracture risk. Conclusions: We identified two previously unreported SNPs in FGFR1 and FABP3 associated with BMD and a third SNP in TIMP2 related to risk for non-vertebral osteoporotic fractures. This is the first report about the association between these allelic variants and the phenotypes of postmenopausal OP. Further studies need to clarify the role of these genes and their polymorphisms in the process of bone loss.

show abstract

“…At present, the incidence of OP is continuously increasing, and OP-related fractures have serous effects on the quality of life for many people. Gene polymorphisms may play an important role in the pathogenesis of this disease (Bustamante et al, 2007), and may be used as a diagnostic tool for early detection and prevention of OP (Wu, 2011).…”

Section: Introductionmentioning

confidence: 99%

Relationship between estrogen receptor 1 gene polymorphisms and postmenopausal osteoporosis of the spine in Chinese women

et al. 2016

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. The purpose of this study was to evaluate single nucleotide polymorphism (SNP) variants of the estrogen receptor 1 gene (ESR1) at rs2234693 and rs9340799, as well as to investigate the relationship between ESR gene polymorphisms and postmenopausal osteoporosis (OP) of the spine in Chinese women. We recruited 198 postmenopausal women with OP and 276 healthy women between May 2012 and September 2015 in Zhongshan Hospital. Dual energy x-ray absorptiometry was used to measure the bone mineral density (BMD) of the lumbar vertebrae in all subjects. In addition, PCR-restriction fragment length polymorphism based analysis was conducted to identify the genotypes of ESR1. The distribution of ESR1 in the osteoporosis group and the control group was determined; the relationship between ESR polymorphisms and BMD was analyzed. The distributions of BMD were: TT < TC < CC, GG < AG < AA. The TT, TTGG, and TCGG genotypes were found to be lower as compared to the other genotypes. Stratified analysis suggested that the TT genotype and the combined genotypes TTGG and TCGG were significantly higher in the OP group as compared to the control group (P < 0.01). Therefore, ESR1 polymorphisms at rs2234693 and rs9340799 may be associated with OP, and could be used as markers to screen those with high risks to postmenopausal OP in Chinese women.

show abstract

COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women

Abstract: Polymorphisms at COL1A1 and TGFB1 and haplotypes at COL1A1 and ESR1 were found to be associated with BMD in a cohort of postmenopausal Spanish women. Moreover, COL1A1 polymorphisms showed significant interactions among them and with the VDR 3' polymorphisms.

Cited by 52 publications

References 37 publications

JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women

JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women

Single nucleotide polymorphisms in new candidate genes are associated with bone mineral density and fracture risk

Relationship between estrogen receptor 1 gene polymorphisms and postmenopausal osteoporosis of the spine in Chinese women

Contact Info

Product

Resources

About