Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.30.2 (endonuclease)
18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The association between vitamin D receptor gene polypmorphisms and bone mineral density is controversial. The relationship between vitamin D receptor genotype and risk of fracture is uncertain. To determine whether vitamin D receptor polymorphisms were associated with the risk of hip, vertebral, and other (nonhip, nonvertebral) fractures in elderly women, we conducted a case-cohort study within a prospective study of 9704 community-dwelling women aged 65 years and older. Vitamin D receptor allele and genotype frequencies in women who experienced first incident hip (n = 181), vertebral (n = 127), and other (n = 223) fractures were compared with those of control women selected randomly from the cohort. Average length of follow-up was 6.5, 3.7, and 5.4 years for women in hip, vertebral, and other fracture analyses, respectively. Vitamin D receptor polymorphisms were determined by polymerase chain reaction amplification of genomic DNA using TaqI and ApaI restriction site endonuclease digestion. All nonvertebral fractures were confirmed by X-ray reports; hip fractures were validated by review of X-ray films. Vertebral fractures were defined by morphometry using lateral spine radiography at baseline and an average of 3.7 years later. Allele or genotype frequencies did not differ between fracture cases and their respective controls. Vitamin D receptor genotype (defined by TaqI, ApaI, or the combination of TaqI and ApaI) was not significantly associated with the risk of hip, vertebral, or other fractures. For example, compared with the referent group of women with TT genotype, those with Tt and tt genotypes had similar age- and weight-adjusted risks of fracture at the hip (hazard ratios 0.9, 95% confidence interval [CI] 0.6-1.3, and 0.8, 95% CI 0.5-1.2, respectively), spine (odds ratios 1.1, 95% CI 0.7-1.8, and 0.7, 95% CI 0.4-1.3, respectively), or other skeletal site (hazard ratios 1.0, 95% CI 0. 7-1.4, and 1.0, 95% CI 0.7-1.5, respectively). These findings were not altered in additional analyses including those adjusted for and stratified by age, ethnic ancestry, calcaneal bone density, dietary calcium intake, use of calcium supplements, use of vitamin D supplements, and oral estrogen use. We conclude that Vitamin D receptor polymorphisms defined by TaqI and ApaI are not associated with the risk of fracture in older women. Our results suggest that determination of these vitamin D receptor polymorphisms is not a clinically useful test for the prediction of fracture risk in elderly women.
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PMID:Vitamin D receptor gene polymorphisms and the risk of fractures in older women. For the Study of Osteoporotic Fractures Research Group. 1049 Dec 9

We examined the vitamin D receptor genotypes (BB, Bb and bb) defined by the Bsml restriction endonuclease in relation to biochemical indices of bone metabolism in healthy Caucasian infants. We measured the serum concentrations of the carboxy-terminal propeptide of type I procollagen (PICP) and the urinary excretion of total pyridinoline, free, total and bound deoxypyridinoline, the type I collagen N-terminal and C-terminal cross-linked telopeptides. The concentrations of the urinary indices are expressed relative to creatinine. Subjects with BB genotype had the highest mean concentrations of free, total and bound deoxypyridinoline and of the N-terminal cross-linked telopeptide (PANOVA = 0.0016, 0.0004, 0.0002 and 0.0053, respectively). BB boys had a higher excretion of the C-terminal cross-linked telopeptide than the other genotypes (PANOVA = 0.0253). In a subgroup of homozygotes aged 10 (1) months, BB subjects had the highest levels of the C-terminal cross-linked telopeptide (p=0.03), and of total deoxypyridinoline (p=0.02) and pyridinoline (p=0.06) concentrations. No significant association between the vitamin D receptor genotype and PICP was found. These data suggest that there may be a contribution of the vitamin D receptor genotype to skeletal metabolism in early childhood.
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PMID:Bsm I polymorphism in the vitamin D receptor gene is related to bone collagen turnover in healthy infants. 1061 58

The vitamin D receptor gene (VDRG) polymorphism as a factor of bone turnover rate or bone mineral density (BMD) is a controversial issue, especially in different ethnic populations. In addition to intron 8 (Bsm1, Taq1) and exon 9 (Apa1), VDRG polymorphism is present at its translation initiation site on exon 2. The VDRG has two translation initiation sites. The first shows a thymine/cytosine polymorphism and can be detected by restriction fragment length polymorphism (RFLP) using the endonuclease Fok1. This start codon polymorphism (SCP) of the VDRG was detected by polymerase chain reaction and then by RFLP with Fok1. While the f allele was assigned for the presence of the restriction site, the F allele was assigned for the absence of the restriction site, and the encoded vitamin D receptor is shorter by three amino acids. We examined the association between this SCP of the VDRG and bone turnover as well as BMD in 101 premenopausal Taiwanese women aged 40-53 years. Total body bone mineral content and BMD of proximal femur and lumbar spine were measured by dual-energy X-ray absorptiometry. We found a prevalence of 39.6% for the f allele of the VDRG. The frequencies of FF, Ff and ff genotypes were 35.6%, 49.5% and 14.9%, respectively. There was no statistically significant difference in BMD at any site or bone turnover markers among the three Fok1 genotypes (FF, Ff and ff). The SCP is independent of Bsm1, Apa1 or Taq1 polymorphisms of the VDRG at intron 8 and exon 9. In conclusion, the SCP polymorphism detected by endonuclease Fok1 does not significantly influence BMD or bone turnover in premenopausal women in Taiwan.
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PMID:The vitamin D receptor start codon polymorphism (Fok1) and bone mineral density in premenopausal women in Taiwan. 1062 63

We undertook this study in order to examine the association between bone mineral density (BMD) and a polymorphism at the first of two potential translation initiation codons in the vitamin D receptor (VDR) gene. This polymorphism was detected by restriction fragment length polymorphism analysis, using polymerase chain reaction (PCR) and the restriction endonuclease FokI. The f allele indicates the presence of the FokI site, and the F allele its absence. The FokI genotype was determined in 174 postmenopausal Korean women, aged 43-71 years. The distribution of FokI genotypes in Koreans was found not to differ significantly from those found in Caucasians and Japanese, although it does differ significantly from that found in the black American population. We observed a significant association between the FokI polymorphism and lumbar BMD; P = 0.048, analysis of covariance [ANCOVA], but no association with femoral neck BMD (P = 0.505, ANCOVA). Those with the ff genotype had a 13.3% lower BMD in the lumbar spine than the FF subjects. In addition, a significantly higher prevalence of the ff genotype was observed in osteoporotic compared with osteopenic or normal women (P = 0.036, chi2 test). These data suggest that the ff genotype of the VDR gene correlates with decreased BMD in the lumbar spine in postmenopausal Korean women.
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PMID:Association of the vitamin D receptor start codon polymorphism (FokI) with bone mineral density in postmenopausal Korean women. 1104 9

Susceptibility to Graves' disease (GD), which is determined by environmental and genetic factors, is conferred by genes in the human leukocyte antigen (HLA) and genes unlinked to HLA, including the CTLA-4 gene. We recently described the association of GD with the vitamin D receptor (VDR) exon 2 initiation codon (VDR-FOK:I) polymorphism. An association of some VDR genotypes with osteoporosis, primary hyperparathyroidism, and some autoimmune diseases, such as insulin-dependent diabetes mellitus and multiple sclerosis, has been reported. We investigated the distribution of VDR gene polymorphism in 180 Japanese patients with GD (48 males and 132 females) and 195 controls (67 males and 128 females). A VDR allelic polymorphism was assessed by BSM:I endonuclease restriction after specific PCR amplification. Genotypic polymorphism was clearly defined as BB (no restriction site on both alleles), bb (restriction site on both alleles), or Bb (heterozygous). The distribution of genotype frequencies differed between patients with GD and controls (chi(2) = 7.53; 2 degrees of freedom; P: = 0.023). The relative risk conferred by at least 1 B allele (BB or Bb) was 1.5. We also found an association between VDR-APA:I polymorphism and GD. No relation was detected between this polymorphism and the VDR-FOK:I polymorphism in the patients. The present results support the association of the VDR gene with GD in Japanese by showing that the VDR gene could be a non-HLA-linked gene predisposing an individual to GD. The role of the VDR gene polymorphism should be further studied in other populations, and the distribution of other polymorphisms, such as the polyadenylase polymorphism further down the VDR 3'-untranslated region, should be studied in terms of GD susceptibility.
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PMID:Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population. 1113 21

Autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) are immune-mediated chronic inflammatory diseases of the liver of unknown etiology. Genetic factors appear to be involved in the pathogenesis of both diseases. 1,25-Dihydroxyvitamin D(3) has been implicated as an immunomodulator, which acts through its own receptor (VDR). Polymorphisms of the VDR have been linked to a variety of autoimmune diseases. In this study VDR polymorphisms were analyzed in 123 patients with AIH, 74 patients with PBC, and 214 controls. VDR polymorphisms were assessed by BsmI, TaqI, ApaI, and Fok endonuclease digestion after specific polymerase chain reaction (PCR) amplification. We found a significant association between the BsmI polymorphisms in PBC patients in comparison with controls (chi(2) = 9.49, P =.009). Furthermore we detected a significant association of the Fok polymorphims in AIH patients in comparison to controls (chi(2) = 9.71, P =.008) indicating a genetic link of VDR polymorphisms to autoimmune liver diseases such as PBC and AIH in German patients. These findings contribute to the knowledge of the complex events determining immunologic tolerance in the liver. Further studies are needed to elucidate the mechanisms by which the vitamin D receptor contributes to the development of autoimmune diseases.
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PMID:Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis. 1178 68

The purpose of this study was to evaluate whether vitamin D receptor (VDR) genes BsmI polymorphisms were markers for susceptibility to or severity of systemic lupus erythematosus (SLE) in Chinese patients in Taiwan. The study included 47 Chinese patients with SLE. In addition, 90 unrelated, healthy individuals living in central Taiwan served as control subjects. Each polymorphism was detected as a result of polymerase chain reaction (PCR)-based restriction analysis. A PCR product length was determined to be 580bp (BB) whereas two fragments of 405 and 175bp were determined to be excisable lengths (bb) by BsmI endonuclease. The relationship between Bsm polymorphisms and clinical manifestations of SLE was evaluated. We found that BB was significantly more common and bb less common in SLE than in control group (chi2 = 54.2, P < 0.0001). In addition, the frequency of B allele was also significantly more common in patients with SLE than in the healthy control subjects (chi2 = 38.7, P < 0.0001), giving an odds ratio of 7.14 (95% confidence interval 3.53-14.4). In the SLE patients, we did not detect any associations of VDR genotype with the clinical, laboratory profiles, or lupus nephritis (chi2 = 2.34, P = 0.3). This study indicated an increased distribution of VDR BB genotype and B allelic frequencies in the Chinese SLE patients in Taiwan. However, there were no associations between the frequency of VDR allelic variations and clinical manifestations, laboratory profiles, or lupus nephritis.
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PMID:Association of vitamin D receptor gene BsmI polymorphisms in Chinese patients with systemic lupus erythematosus. 1189 16

Bone mineral density (BMD) is affected by muscle strength. Recently, vitamin D receptor (VDR) genotype was reported to affect muscle strength as well as BMD in Caucasian women. The aim of this study was to evaluate independent effects of muscle strength of the trunk on BMD at the spine and its change over time in Japanese women. We followed 119 healthy postmenopausal women for 4 years and determined the change in BMD at the spine by dual energy X-ray absorptiometry. Isometric peak torque and isokinetic concentric and eccentric peak torque of the trunk flexors and extensors were measured. The VDR genotype was determined by the PCR-RFLP method based on Apa I and Taq I endonuclease digestions defining the absence/existence of the restriction sites as A/a and T/t, respectively. The subjects were 60.1 +/- 6.6 years old, had 0.808 +/- 0.159 g/cm2 of BMD at baseline. The mean annual change in BMD (delta BMD) was -5.6 +/- 10.4 mg/cm2 during the follow-up period. The VDR genotype, defined by Taq I enzyme, significantly related to BMD at baseline and delta BMD showing that the subjects with genotype TT had the lowest BMD at baseline and lost bone most rapidly. However, its effect on muscle strength was not significant. All the trunk muscle strength indices showed significant positive effects on delta BMD, that is, the effects in increasing the gain and reducing the loss of BMD, after controlling for the effects of age, body size and the VDR genotype. The eccentric trunk extensor torque had a significant positive effect on delta BMD in a dose-dependent manner. The effect of this torque was the greatest among all the muscle indices. The net effect of the trunk extensor torque on delta BMD was greater than that of the VDR genotype. The trunk muscle strength was suggested to affect BMD change independently of age, body size, and the VDR genotype. Exercise programs to increase the strength of the trunk muscles would be beneficial for the prevention of osteoporosis regardless of the VDR genotypes.
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PMID:Greater trunk muscle torque reduces postmenopausal bone loss at the spine independently of age, body size, and vitamin D receptor genotype in Japanese women. 1215 94

The genetic difference among individuals partly explains variance in adaptive response to exercise through gene-environment interaction. The aim of this cross-sectional study was to evaluate the role of the vitamin D receptor (VDR) gene polymorphism, which locates at the translation initiation site, in the adaptations of bone to long-term impact loading. The VDR genotypes, as detected by endonuclease Fok I, and bone phenotypes of the lumbar spine and femoral neck were examined in 44 highly trained young male athletes and 44 age-matched nonathletic controls. As a whole, the athletes had a significantly higher bone mineral content resulting from a combination of increased volume and density at both sites than the controls. When the athletes were compared with the controls within each VDR genotype, however, the increased spinal volume was found only in the athletes with the FF but not in those with the Ff genotype("F" for the absence of the endonuclease Fok I restriction site and "f" for its presence). Differences in bone mineral content in the lumbar spine and femoral neck between the controls and the athletes were greater in subjects with FF than those with Ff. Our results suggest a gene-environment interaction in that the bone phenotypes in individuals with FF adapt to impact loading by producing stronger bone structure than those with the Ff do.
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PMID:Potential role of vitamin D receptor gene polymorphism in determining bone phenotype in young male athletes. 1239 Oct 72

With the aim to determine whether bone metabolism in young women using low-dose oral contraception is influenced by vitamin D receptor (VDR) genotype, we designed the prospective clinical study of 41 healthy women aged 20-27 years. Twenty-one women of the study group were prescribed an oral contraceptive (30 microg ethynyl estradiol and 150 microg levonorgestrel) and 20 women of the control group a nonhormonal contraceptive or none. Biochemical markers of bone metabolism (bone-specific alkaline phosphatase, osteocalcin, deoxypyridinoline) and VDR genotype, using BsmI endonuclease, were determined. After 3 months in the study group, the BB genotype subgroup showed significantly decreased osteocalcin (p = 0.010), in the Bb genotype subgroup bone-specific alkaline phosphatase (p = 0.043) and osteocalcin (p = 0.006) decreased, and in the bb genotype subgroup no changes were observed. In the control group, there were no significant changes in markers of bone metabolism regarding VDR genotype. In conclusion, our study shows that in young women VDR gene polymorphism could influence bone metabolism during low-dose oral contraceptive use.
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PMID:Vitamin D receptor gene polymorphism and bone metabolism during low-dose oral contraceptive use in young women. 1252 55


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