Bone health, genetics, and personalised nutrition

Cashman, Kevin D.; Seamans, Kelly M.

doi:10.1007/s12263-007-0010-0

Cited by 6 publications

(3 citation statements)

References 25 publications

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“…It is estimated that 46-62% of BMD variation can be attributed to genetic factors, including variations in expressions of different candidate genes encoding proteins such as calciotropic hormones, cytokines, growth factors, bone matrix proteins, and growth factor receptors, which all participate in bone metabolism and in the pathogenesis of OP (Gronholz, 2008;Marini and Brandi, 2010). The vitamin D receptor (VDR) gene has been extensively studied in relation to BMD, with inconsistent results reported for different populations around the world (Thakkinstian et al, 2004;Zintzaras et al, 2006;Cashman and Seamans, 2007;Marini and Brandi, 2010). The VDR gene, also known as the 1,25-dihydroxy vitamin D3 receptor, is located on chromosome 12q13.11, is 75 kb in size, and is composed of 11 exons.…”

Section: Introductionmentioning

confidence: 99%

Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women

González-Mercado

Sánchez-López²,

Regla-Nava³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. We investigated associations between vitamin D receptor (VDR) gene polymorphisms, FokI T>C (rs2228570), BsmI G>A (rs1544410), ApaI G>T (rs7975232), and TaqI T>C (rs731236), with bone mineral density (BMD) in postmenopausal Mexican-Mestizo women. Three hundred and twenty postmenopausal women participated, who were classified according to World Health Organization criteria as non-osteoporotic (Non-OP; N = 88), osteopenic (Opn; N = 144), and osteoporotic (OP; N = 88). BMD measurements at the lumbar (L1-L4) spine and at the left and right femoral neck were obtained by dual-energy X-ray absorptiometry. Single nucleotide polymorphisms (SNPs) were genotyped using real-time polymerase chain reaction and TaqMan probes. Genotype and allelic frequencies of the 4 VDR SNPs were similar among the 3 groups. Polymorphic allele frequencies were as follows: FokI (C) 0.53, 0.49, 0.56; BsmI (A) 0.26, 0.22, 0.23; ApaI (T) 0.43, 0.39, 0.44; TaqI (C) 0.27, 0.22, 0.23 for the Non-OP, Opn, and OP groups, respectively. Although no associations were found between the SNPs and BMD, based on the putative function of the FokI SNP, we constructed, for the first time, the haplotype with the 4 VDR SNPs, and found that the CGGT haplotype differed between the Non-OP and OP groups (21.8 vs 31.8%, P < 0.05). The risk analysis for this haplotype was nearly significant under the dominant model (OR = 1.783, 95%CI = 0.98-3.25, P = 0.058). This result suggests a possible susceptibility effect of the C allele of the FokI SNP for the development of osteoporosis in postmenopausal Mexican-Mestizo women.

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Section: Introductionmentioning

confidence: 99%

Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women

González-Mercado

Sánchez-López²,

Regla-Nava³

et al. 2013

Genet. Mol. Res.

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“…Many studies report that the children and adolescents with CF do not succeed to achieve adequate bone mass, compared with healthy children in the time of their quick puberty growth. [3,4] In a study from France in 114 children and adolescents with CF who had good nutritional status and mild lung disease, 34% had Z score lower than -1 in the lumbar part of the spine, including patients 6 years old. Similar findings in normal prepubertal children with CF are reported in stud-ies from Grey and al., Bianchi and al.…”

Section: Discussionmentioning

confidence: 99%

“…The incidence of bone disease in CF in the world is 30%. [2] The etiology of osteopenia in CF is multifactorial, including poor nutritional status, repeated episodes of infection and inflammation, altered hormonal status, glucocorticoid use, reduction in physical activities which are necessary to promote bone strength, insufficiency of vitamin D. [3] It can be a result of abnormal turnover, decreased bone formation and increased bone resorption. Patients with CF have a deficit of liposolubile vitamins (A, D, E and K).…”

Section: Analysis Of Bone Metabolism In Children With Cystic Fibrosismentioning

confidence: 99%

Analysis of Bone Metabolism in Children with Cystic Fibrosis

Jakovska

2018

Prilozi

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One of the most important CF-related conditions is the bone disease, which is nowadays acknowledged as a significant clinical complication of CF. Imbalance between bone formation and degradation in cystic fibrosis (CF) has become an important issue for developing osteopenia. The aim of the study was to assess bone formation and resorption process with bone markers in children with cystic fibrosis (CF). Materials and methods: The study included 35 clinically stable children with CF who regularly attended the Cystic fibrosis center at the University Pediatric Clinic in Skopje, R. Macedonia. The control group was presented with 21 healthy children at the same age. Serum osteocalcin (OC), β cross laps, 25OHD and PTH were determined by ELISA assays in the CF group (mean age 8.25±SD1.9 y.) and in age-match controls (7.5±1.9 y.). Results: Vitamin D in the CF group was (23.83±10.9 ng/ml versus 25.6±11.53 in the control group, p=0.57), OC (70.88±34.24 ng/ml v.100.02±47.98, p=0.01) βcrosslaps (1.35±0.72 ng/ml v.1.54±0.73, p=0.37) and PTH (37.39±25.5 pg/ml v. 36.76±25.73, p=0.92). In the study, we did not find a significant difference for 25OHD between CF and healthy controls. OC in children with CF correlates significantly with the control and indicates a decreased formation rate whereas resorption rate is normal. Conclusion: Our results suggest that bone turnover in CF is impaired in childhood. Serum markers for bone formation can be used for predicting osteopenia in children with CF.

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Does the geographical gradient of ApoE4 allele exist in China? A systemic comparison among multiple Chinese populations

Qin

Jing

et al. 2010

Mol Biol Rep

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The allelic frequencies of apolipoprotein E (apoE) vary substantially around the world. There is a conspicuous south-to-north gradient of e4 frequencies in Europe, with the proportion of e4 carriers from only 10-15% in the south to 40-50% in the north. The mechanism may be related to the possibility that e4 carriers are less likely to develop vitamin D deficiency. In addition, Asian populations traditionally have lower e4 frequency than Europeans, which may be attributed in part to the scarce or irregular food supplies in Western world in the recent past. However, whether these geographical distribution gradients exist in China is yet unknown. ApoE genotypes of 200 children from Nanning City were determined by PCR-restriction fragment length polymorphism (RFLP) analysis. Allele frequency data of 18 other populations were collected from published sources and correlated with latitude and longitude information from different geographic resources. In our subjects, the frequencies of apoE genotypes were E3/E3: 73.0%, E3/E2: 15.0%, E4/E3: 5.0%, E4/E4: 5.0%, and E4/E2: 2.0%; the frequencies of apoE alleles were e2: 8.5%, e3: 83.0%, and e4: 8.5%, respectively. The total sample consisted of 3,679 individuals from 19 Chinese populations; the allelic frequencies were e2: 7.6%, e3: 85.5%, and e4: 6.9%, respectively; the proportion of e4 carriers was from 4.9% in Kunming to 17.5% in Harbin. Systemic comparison among multiple Chinese populations revealed that positive correlation existed between the e4 allele frequency distribution and latitude north (r=0.586, P=0.008), but no correlation of the e4 allele frequency distribution with longitude east was found (r=-0.018, P=0.942). We conclude that there is a south-to-north, but not an east-to-west gradient for the apoE4 allele in China.

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Bone health, genetics, and personalised nutrition

Cited by 6 publications

References 25 publications

Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women

Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women

Analysis of Bone Metabolism in Children with Cystic Fibrosis

Does the geographical gradient of ApoE4 allele exist in China? A systemic comparison among multiple Chinese populations

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