Association between polymorphisms in vitamin D receptor gene and adolescent idiopathic scoliosis: a meta-analysis

Dai, Jun; Lv, Zheng‐tao; Huang, Jian; Peng, Cheng; Huang, Fang; Chen, Anmin

doi:10.1007/s00586-018-5614-0

Cited by 9 publications

(12 citation statements)

References 41 publications

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“…Three of the eight included studies supported a single-gene hypothesis for AIS etiology, albeit within specific populations. Additional systematic reviews of AIS have evaluated the quality of evidence between AIS etiology and specific variants, including those in or near LBX1 [ 64 – 66 , 69 , 72 , 83 ], ESR1/2 [ 84 – 86 ], and VDR [ 87 , 88 ]. Our systematic review will build upon this work by evaluating evidence for specific SNPs in relationship to AIS etiology, rather than collective evidence for a single-gene hypothesis.…”

Section: Discussionmentioning

confidence: 99%

Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis: a systematic review protocol

et al. 2022

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Background Adolescent idiopathic scoliosis (AIS) is a structural lateral spinal curvature of ≥ 10° with rotation. Approximately 2–3% of children in most populations are affected with AIS, and this condition is responsible for approximately $1.1 billion in surgical costs to the US healthcare system. Although a genetic factor for AIS has been demonstrated for decades, with multiple potentially contributory loci identified across populations, treatment options have remained limited to bracing and surgery. Methods The databases MEDLINE (via PubMed), Embase, Google Scholar, and Ovid MEDLINE will be searched and limited to articles in English. We will conduct title and abstract, full-text, and data extraction screening through Covidence, followed by data transfer to a custom REDCap database. Quality assessment will be confirmed by multiple reviewers. Studies containing variant-level data (i.e., GWAS, exome sequencing) for AIS subjects and controls will be considered. Outcomes of interest will include presence/absence of AIS, scoliosis curve severity, scoliosis curve progression, and presence/absence of nucleotide-level variants. Analyses will include odds ratios and relative risk assessments, and subgroup analysis (i.e., males vs. females, age groups) may be applied. Quality assessment tools will include GRADE and Q-Genie for genetic studies. Discussion In this systematic review, we seek to evaluate the quality of genetic evidence for AIS to better inform research efforts, to ultimately improve the quality of patient care and diagnosis. Systematic review registration PROSPERO registration #CRD42021243253

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Section: Discussionmentioning

confidence: 99%

Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis: a systematic review protocol

et al. 2022

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“…Status of vitamin D is of great concern in critical periods of growth, mainly in the pubertal spurt (19,20). To the date, most of the studies focused on VDR have been performed in subjects who are vitamin D-deficient because VDR SNPs may modify receptor-mediated responses based on vitamin D status (21).…”

Section: Introductionmentioning

confidence: 99%

“…To the date, most of the studies focused on VDR have been performed in subjects who are vitamin D-deficient because VDR SNPs may modify receptor-mediated responses based on vitamin D status (21). Scarce data are available for vitamin D sufficient subjects (19). We carried out this study in healthy children and adolescents aged 10 to 14 years with sufficient levels of vitamin D to examine the relationships between FokI, ApaI and TaqI SNPs in the VDR gene and parameters of inflammation and oxidative stress.…”

Section: Introductionmentioning

confidence: 99%

Vitamin D receptor gene ApaI and FokI polymorphisms and its association with inflammation and oxidative stress in vitamin D sufficient Caucasian Spanish children

Ferrer-Suay¹,

Alonso‐Iglesias²,

Tortajada‐Girbés³

et al. 2021

Transl Pediatr

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Background: Vitamin D has gone from being just one vitamin to being an important prohormone with multiple effects on different tissue types. The mechanism of action of the active form or calcitriol is mediated by the intracellular vitamin D receptor (VDR). The interaction of the VDR with calcitriol modulates the expression of target genes involved in cell proliferation and cytokine production. Several studies have explored the effects of vitamin D deficiency in inflammatory disorders. Furthermore, some mutations in the VDR can affect its functionality. The focus of this study was to explore associations between VDR single nucleotide polymorphisms (SNPs) and markers of inflammation and oxidative stress in vitamin D sufficient children.Methods: This is a cross-sectional study of a Caucasian Spanish population including 155 healthy children (87 males, 68 females) aged 10 to 14 years. FokI, ApaI and TaqI SNPs of the VDR gene were genotyped.Routine biochemistry, serum levels of interleukin-6, tumor necrosis factor-α, interferon-γ, 8-isoprostaglandin F2α and nitrates were determined. Results:The homozygous major allele AA in the FokI SNP was associated with increased levels of highdensity lipoprotein cholesterol in a recessive inheritance mode (P=0.025). The minor allele A of ApaI was significantly associated with decreased serum tumor necrosis factor-α and 8-isoprostaglandin F2α in an additive mode (P=0.016 and P=0.020 respectively). No significant associations were observed between the TaqI SNP and any of the parameters evaluated. Haplotype analysis confirmed the significance of the relationships between ApaI and FokI SNPs and parameters associated with inflammation and oxidative stress.Conclusions: Genetic variations of VDR are associated with subtle changes in metabolic, inflammatory and oxidative stress markers. These results may provide a better understanding of the relationships between vitamin D and these clinical parameters.

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“…[ 10 ] Meanwhile, another review only approved the result in Bsml but rejected the conclusion in Apal. [ 11 ] Estrogen receptor (ESR) gene is believed to be related to growth and maturation. Nevertheless, null association with AIS was found in the review of both locus ESR1 rs9340799 and ESR2 rs1256120.…”

Section: Introductionmentioning

confidence: 99%

Association study of single nucleotide polymorphism in tryptophan hydroxylase 1 gene with adolescent idiopathic scoliosis

Yang

2021

Medicine

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Background: Adolescent idiopathic scoliosis is a common spinal deformity among children and adolescents worldwide with its etiology uncertain. Over a decade, a single nucleotide polymorphism rs10488682 in tryptophan hydroxylase 1 (TPH1) gene has been investigated in several association studies. We perform this study to summarize the current evidence of TPH1 rs10488682 polymorphisms and adolescent idiopathic scoliosis (AIS). Methods: Six databases were systematically searched: PubMed, Embase, Cochrane Library, Web of Science, Chinese Biomedical Literature, and Wanfang database. Eligible case–control studies related to TPH1 and AIS were selected. Reference lists of them were reviewed for more available studies. Two authors independently screened and evaluated the literature and extracted data. The odds ratios and 95% confidence intervals were derived in association tests. Subgroup analysis was conducted by ethnicity. Sensitivity analysis was performed to examine the stability of the overall results. Results: A total of 1006 cases and 1557 controls in 3 independent studies were included for meta-analysis. Statistical significance was discovered in heterozygote model (AT vs AA: OR = 1.741, 95%Cl = 1.100–2.753, P = .018 < .05, I 2 = 0%), recessive model (AA vs AT + TT: OR = 0.640, 95%Cl = 0.414–0.990, P = .045 < .05, I 2 = 0%) and over-dominant model (AT vs AA + TT: OR = 1.366, 95%Cl = 1.115–1.673, P = .003 < .05, I 2 = 84.7%) in overall populations. Similar associations were also found in the Caucasian population. No significant associations were found in other genotypic comparisons and allelic comparisons. Conclusions: Statistically significant correlations were discovered between the TPH1 rs10488682 polymorphisms and AIS. Heterozygous AT genotype seems to be risky with an over-dominant effect. Ethnicity appears to modify the disease association. Registration: Not applicable.

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Association between polymorphisms in vitamin D receptor gene and adolescent idiopathic scoliosis: a meta-analysis

Cited by 9 publications

References 41 publications

Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis: a systematic review protocol

Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis: a systematic review protocol

Vitamin D receptor gene ApaI and FokI polymorphisms and its association with inflammation and oxidative stress in vitamin D sufficient Caucasian Spanish children

Association study of single nucleotide polymorphism in tryptophan hydroxylase 1 gene with adolescent idiopathic scoliosis

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