Genetics of Osteoporosis and Vitamin D Receptor Alleles

Eisman, John A.; Morrison, Nigel Alexander; Kelly, Paul; Sambrook, Philip N.; Howard, G.; Qi, Jian-Cheng; Tokita, Akifumi; Crofts, Linda; Nguyen, Tuan V.; Birmingham, J

doi:10.1007/bf03354655

Cited by 11 publications

(5 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…DNA was extracted using standard salting out procedure. Extracted DNA was ampliWed and analysed for TNFRII, VDR (Bsm I and Fok I), A2M, GSTT 1 , GSTM 1 and ACE loci using PCR protocols and restriction enzyme digestions described previously, with minor modiWcations [11,17,19,26,27]. Allele frequencies were obtained by direct allele counting.…”

Section: Methodsmentioning

confidence: 99%

Association analysis of TNFR2, VDR, A2M, GSTT1, GSTM1, and ACE genes with rheumatoid arthritis in South Asians and Caucasians of East Midlands in the United Kingdom

et al. 2010

View full text Add to dashboard Cite

Genetic associations of TNFR2, VDR (Bsm I and Fok I), A2M, GSTT(1), GSTM(1) and ACE in South Asian and Caucasian patients with rheumatoid arthritis (RA) were assessed in this study. DNA samples from South Asians (134 cases, 149 controls) and Caucasians (137 cases, 150 controls) from the East Midlands of the United Kingdom were genotyped for seven polymorphisms. All cases were rheumatoid-factor positive. Significant genetic associations were observed with TNFR2 R-R (OR = 3.16, CI 1.20-9.26, P < 0.05), A2M 1-1 (OR = 2.09, CI 1.21-3.64, P < 0.05) and GST T(1)null (OR = 1.97, CI 1.07-3.68, P < 0.05) among Caucasian patients. In South Asians, VDR Bsm I B-B genotype (OR = 2.08, CI 1.23-3.52, P < 0.05), A2M 2-2 genotype (OR = 3.99, CI 1.19-17.18, P < 0.05), and GST T(1)null genotype (OR = 2.81, CI 1.40-5.77, P < 0.002) genotypes were associated with RA. In the majority of cases, recessive and multiplicative modes of inheritance explained the observed associations. This study demonstrates that ethnicity affects the genetic associations in RA.

show abstract

Section: Methodsmentioning

confidence: 99%

Association analysis of TNFR2, VDR, A2M, GSTT1, GSTM1, and ACE genes with rheumatoid arthritis in South Asians and Caucasians of East Midlands in the United Kingdom

et al. 2010

View full text Add to dashboard Cite

show abstract

“…Studies in twins [3,4] and relatives [5,6] estimate that genetic factors account for up to 50-90% of the total factors that determine bone mass [7][8][9] and contribute significantly to the following processes: peak bone mass acquisition [4,5,10], turnover [11,12], and loss of bone mass throughout the lifetime of the patient [13]. Four polymorphisms (BsmI, TaqI, ApaI, and FokI) in the Vitamin D receptor (VDR) gene have been studied more frequently because of their associations with BMD and osteoporosis.…”

Section: Introductionmentioning

confidence: 99%

The Relationship between Polymorphisms in the Vitamin D Receptor Gene and Bone Mineral Density in Postmenopausal Women

et al. 2014

View full text Add to dashboard Cite

The objective of this study was to identify, through a systematic review of the literature, Vitamin D receptor gene (VDR) polymorphisms related to osteoporosis and their effects on bone mineral density (BMD). The articles dated between January 2000 and December 2011 in the Scielo and PubMed databases were reviewed. A total of 23 articles that studied the association between the BsmI, ApaI, FokI, and TaqI polymorphisms and bone mineral density in postmenopausal women were selected. We found systematic studies/meta-analysis (level E-I) and case-control/cohort (level E-IV) studies. No definite conclusions can be made regarding the association of BsmI, ApaI, FokI, and TaqI polymorphisms with BMD among postmenopausal women. Larger and more rigorous analytical studies with consideration of gene-gene/environment interactions are needed to further dissect the mechanisms by which VDR alleles influence BMD.

show abstract

“…Although studies performed by Morrison et al [8,9] have focused attention on the possibility that polymorphisms in the vitamin D receptor (VDR) gene may account for a significant part of this variation, the distribution of BMD in the population strongly suggests a polygenic inheritance [10,11]. Several groups have studied the relationship between VDR and bone mass as well as bone turnover in different populations, and obtained discordant results [8,[12][13][14][15][16][17][18][19][20][21][22][23].…”

Section: Introductionmentioning

confidence: 99%

Vitamin D Receptor Alleles, Bone Mineral Density and Turnover in Postmenopausal Osteoporotic and Healthy Women

Duman

Tanakol²,

Erensoy

et al. 2004

Med Princ Pract

View full text Add to dashboard Cite

Objective: Vitamin D receptor (VDR) gene polymorphisms and bone metabolic markers were investigated as potential genetic markers for osteoporosis in postmenopausal Turkish women. The relationship between their VDR gene polymorphisms and bone states was determined. Materials and Methods: Restriction fragment length polymorphisms at the VDR gene locus (i.e., for BsmI, ApaI, and TaqI) was investigated in 75 postmenopausal osteoporotic (53.16 ± 1.31 years) and 66 healthy (52.62 ± 1.69 years) Turkish women and the genotypes were related to bone mineral density (BMD) at femoral neck (FN), lumbar spine (L1–4), trochanter, Ward’s triangle (Ward’s) and metabolic parameters of bone turnover. Results: In osteoporotic women, TaqI genotype-related differences of the VDR gene were found to be significant at all BMD sites; TT genotype had higher L1–4 BMD values than Tt and tt (p < 0.05); tt genotype had significantly lower BMD at FN (p < 0.05), trochanter (p < 0.01), and Ward’s (p < 0.05) compared to TT genotype. The tt genotype was found to be associated with higher (p < 0.05) serum osteocalcin levels compared to Tt and TT genotypes in the osteoporotic women, whereas no such association was found for the healthy women. Conclusion: Our data showed an association between VDR TaqI genotype and BMD at the FN, L1–4, trochanter and Ward’s triangle in nonobese postmenopausal osteoporotic women. Thus the VDR gene Taql polymorphism modulates differences in BMD in the postmenopausal osteoporotic women.

show abstract

Genetics of Osteoporosis and Vitamin D Receptor Alleles

Cited by 11 publications

References 11 publications

Association analysis of TNFR2, VDR, A2M, GSTT1, GSTM1, and ACE genes with rheumatoid arthritis in South Asians and Caucasians of East Midlands in the United Kingdom

Association analysis of TNFR2, VDR, A2M, GSTT1, GSTM1, and ACE genes with rheumatoid arthritis in South Asians and Caucasians of East Midlands in the United Kingdom

The Relationship between Polymorphisms in the Vitamin D Receptor Gene and Bone Mineral Density in Postmenopausal Women

Vitamin D Receptor Alleles, Bone Mineral Density and Turnover in Postmenopausal Osteoporotic and Healthy Women

Contact Info

Product

Resources

About