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Micronutrients and Nutraceuticals: Effects on Exercise Performance
Published in Peter M. Tiidus, Rebecca E. K. MacPherson, Paul J. LeBlanc, Andrea R. Josse, The Routledge Handbook on Biochemistry of Exercise, 2020
Stella L. Volpe, Quentin Nichols
Because of vitamin D's role in bone metabolism, a number of studies have been published in this area. One such study was published by Armstrong et al. (4), who evaluated the gene–environment interaction in 51 Royal Marines in the United Kingdom who developed a stress fracture during training. They were compared to 141 uninjured controls. They performed genotyping for the vitamin D receptor (VDR) FokI polymorphism in all participants. They reported that baseline serum calcidiol concentrations interacted with the VDR FokI polymorphism. That is, the higher the calcidiol concentrations, the lower the stress fracture risk (p = 0.01). Armstrong et al. (4) concluded, “This further supports the role of low serum vitamin D concentrations in causing stress fractures, and hence prophylactic vitamin D supplementation as an injury risk mitigation strategy.”
PCR-RFLP
Published in M. Kam, Jeffrey L. Bidwell, Handbook of HLA TYPING TECHNIQUES, 2020
DQwl (Figure 3A) has seven alleles. Five of seven homozygous DQwl alleles are discriminated from each other on the basis of the cleavage patterns with five different restriction enzymes—Fokl, Apal, Haell, SfaNl, and BssHll (Table 6). Two indistinguishable alleles, DQB1*0501 and DQB1*0503, can be discriminated by the RFLP band patterns generated by one additional restriction enzyme, Hphl, as shown by Table 6. Unfortunately, no restriction enzyme is thus far available to distinguish between 0061*0602 and DQB1*0603 as long as the primers described here are used. (These two alleles can be discriminated using a 5′ primer of the 3′ end of the first intron flanking exon 2 followed by Rsal digestion.17) Of 21 possible heterozygotes among 7 DQwl alleles,15 can be defined by these enzymes (Table 7), and all of the 6 remaining heterozygotes include DQB1*0602 or DQB1*0603 on one allele. This must be discriminated using a 5′ primer of the 3′ end of the first intron (as described above) or allele-specific primers, or by taking the tight linkage disequilibrium into consideration for associated DRB1 and DQA1 alleles.
The science of biotechnology
Published in Ronald P. Evens, Biotechnology, 2020
In this short overview, five methods for gene editing will be defined and briefly outlined: (1) ARCUT, (2) meganucleases, (3) ZFN, (4) TALEN, and (5) CRISPER/Cas. ARCUT is artificial restriction DNA cutter. The DNA cleavage involves a pseudo-complementary peptide nucleic acid that specifies the cleavage site, DNA excision and splicing with ethylenediaminetetraacetic acid and cerium, and DNA ligase to foster DNA attachment at the target site. Meganucleases are large protein enzymes that are many in number and naturally occurring and that excise DNA sequences. They are bound to proteins that assist in specifying DNA cleavage sites. They are limited by also naturally occurring repair processes in cells that can also cause changes in other DNA sites. Zinc finger nucleases (ZFNs) are synthetic programmable combinations of a restriction endonuclease (FokI) and small zinc-ion regulated binding domain proteins, which target triple codons (three nucleic acid sites). FokI nucleases are the DNA cleavage domain only with deletion of the DNA recognition domain. FokI requires homodimerization at the target site in order to cleave DNA, such that two zinc finger molecules are needed to target two nearby DNA sites for DNA cleavage. TALEN is a transcription activator-like effector nuclease, a synthetic construction of a restriction endonuclease (FokI also), bound to a DNA-binding protein domain (TAL effector). The TALEN can bind to single nucleic acids and functions similar to the ZFNs.
Associations between polymorphisms in VDR gene and the risk of osteoporosis: a meta-analysis
Published in Archives of Physiology and Biochemistry, 2022
Ling Ling Jiang, Chao Zhang, Yu Zhang, Fei Ma, Yi Guan
Twenty-nine eligible literatures involving 3980 cases and 4322 controls explored relationship between FokI rs10735810 polymorphism and the risk of osteoporosis. The integrated analyses demonstrated that FokI rs10735810 polymorphism was significantly associated with the risk of osteoporosis in overall population (dominant comparison: OR = 0.76, 95%CI 0.69–0.83, p < .0001, I2 = 36%; recessive comparison: OR = 1.50, 95%CI 1.21–1.85, p = .0002, I2 = 51%; allele comparison: OR = 0.83, 95%CI 0.73–0.93, p = .002, I2 = 63%). Further subgroup analyses by ethnic groups revealed similar positive associations in Asians, but not in Caucasians. Additionally, further subgroup analyses by disease subtypes revealed similar positive results for FokI rs10735810 polymorphism in both type I and type II subgroups (see Table 2).
Lower vitamin D levels and VDR FokI variants are associated with susceptibility to sepsis: a hospital-based case-control study
Published in Biomarkers, 2022
Xinyue Yang, Jin Ru, Zhengchao Li, Xingpeng Jiang, Chuming Fan
Combination analysis has been recommended to establish a concrete association of related molecules in disease pathogenesis. Since vitamin D exerts its functional activity through VDR, investigating plasma vitamin D and VDR mutation status at the same time will represent the actual association of vitamin D with Sepsis and its clinical severity. Earlier studies have also found a connection between combined plasma vitamin D and VDR variants and systemic lupus erythematosus (Mahto et al.2018) and chronic heart failure. Similarly, the current study's combined findings revealed a significant influence by both plasma 25(OH) vitamin D levels and the VDR FokI variant in the occurrence of sepsis and septic shock. In all genetic backgrounds for the FokI polymorphism, subjects with deficient and inadequate 25 (OH) vitamin D levels were associated with sepsis. Furthermore, sepsis patients with low plasma 25(OH) vitamin D and the FF genotype (p = 0.04, OR = 6.62) or Ff (p = 0.07, OR = 5.53) were more likely to develop septic shock than other combinations. Collectively, the findings of the current study reinforce the joint analysis of related molecules in order to reach a firm conclusion on their function in disease.
The association between vitamin D receptor FokI gene polymorphism and osteoporosis in postmenopausal women: a meta-analysis
Published in Climacteric, 2021
S. Wang, Z. Ai, M. Song, P. Yan, J. Li, S. Wang
Postmenopausal osteoporosis is a common disease associated with aging, mainly in postmenopausal elderly women, which seriously affects their health span and even shortens life expectancy13–15. Gross et al. conducted a study in postmenopausal Mexican-American women, and found that the FokI polymorphism of the VDR gene correlates significantly with decreased BMD at the lumbar spine and with an increased rate of bone loss at the hip in ff subjects16. In another study of postmenopausal Italian women, Gennari et al. observed a weak association between the FokI polymorphism and lumbar BMD (p = 0.06) but no association with femoral neck BMD (p = 0.5)17. Based on VDR biological functions, FokI can be seen as a candidate gene for osteoporosis. Accumulating studies have investigated the association between this polymorphism and osteoporosis18,19, but the results were inconsistent. Therefore, we conducted a meta-analysis to quantitatively assess the impact of the FokI polymorphism on the risk of osteoporosis.