Association of interleukin-6 (rs1800796) but not transforming growth factor beta 1 (rs1800469) with serum calcium levels in osteoporotic patients

Eftekhari, Hajar; Hosseini, Seyed Reza; Baboli, Hadis Pourreza; Golchin, Maryam Mafi; Heidari, Laleh; Abedian, Zeinab; Pourbagher, Roghayeh; Amjadi‐Moheb, Fatemeh; Kani, Seyyedeh Narges Mousavi; Nooreddini, Hajighorban; Akhavan‐Niaki, Haleh

doi:10.1016/j.gene.2018.05.118

Cited by 12 publications

(11 citation statements)

References 50 publications

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“…IL-6 is linked to DDH with its complex role in the physiology of bone metabolism, calcium and vitamin D levels, which plays a considerable role in the pathogenesis of osteoporosis [63]. Mutations of a single nucleotide-SNPs-located in the promoter of IL-6 are linked to OA [64], which is often the result of an untreated DDH.…”

Section: Genetic Aspectsmentioning

confidence: 99%

Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

Harsanyi¹,

Zamborský²,

Krajčíová³

et al. 2020

Medicina

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As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. Candidate gene association studies (CGASs) along with genome-wide association studies (GWASs) and genome-wide linkage analyses (GWLAs) have found numerous genes and loci with susceptible DDH association. Studies put major importance on candidate genes associated with the formation of connective tissue (COL1A1), osteogenesis (PAPPA2, GDF5), chondrogenesis (UQCC1, ASPN) and cell growth, proliferation and differentiation (TGFB1). Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies.

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Section: Genetic Aspectsmentioning

confidence: 99%

Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

Harsanyi¹,

Zamborský²,

Krajčíová³

et al. 2020

Medicina

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“… 11 More importantly, IL-6 r s1800796 were significantly correlated with BMD, while BMD is a key indicator of bone strength and the most effective predictor of fracture risk. 37 What’s more, osteoporosis is a common complication and clinical outcome of OVCF, and IL-6 rs1800796 is also associated with osteoporosis. 37 Therefore, we suspected that IL-6 rs1800796 might be related to OVCF.…”

Section: Discussionmentioning

confidence: 99%

Association of IL-6 and TGF-β Gene Polymorphisms with the Risk of Thoracolumbar Osteoporotic Vertebral Compression Fractures

Xiong

Yang

Yan³

et al. 2022

PGPM

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Purpose Osteoporotic vertebral compression fracture (OVCF) is a common disease in the elderly, and genetic factors play a key role in its occurrence. The present study was conducted to investigate the association between interleukin-6 ( IL-6 ) and the transforming growth factor ( TGF-β ) gene polymorphisms and the occurrence of thoracolumbar OVCF. Patients and Methods This case–control study recruited 146 patients with OVCF and 144 osteoporosis patients as the control group. Genotypes of the IL-6 rs1800796 and TGF-β rs1982073 were analyzed by sequencing. Genotype distribution and allelic frequencies were investigated by the χ 2 test. Odds ratios (OR) and 95% confidence intervals (CI) evaluated the relationship of IL-6 or TGF-β polymorphism and OVCF susceptibility. Results Allele G and genotype GG of IL-6 rs1800796 was more frequent in patients with OVCF (40.07% vs.28.47%; 19.18% vs.7.64%) compared with controls. GG genotype (OR=3.394, 95% CI=1.560–7.385, P < 0.001) and G allele (OR=1.680, 95% CI=1.187–2.376, P < 0.001) of IL-6 rs1800796 was significantly associated with increased risk of OVCF. What is more, CT and TT genotypes (41.78 vs.51.39; 19.86 vs.26.39) and allele T (40.75 vs 52.08) of TGF-β rs1982073 were less frequent in OVCFs, more common in controls and protective against OVCF risk (OR=0.436, 95% CI=0.228–0.835, P = 0.012; OR=0.615, 95% CI=0.443–0.855, P = 0.004). Conclusion Our results suggest that the G allele and GG genotype of IL-6 rs1800796 may contribute to increased susceptibility to OVCF in elderly Chinese. In contrast, CT and TT genotypes and the T allele of TGF-β rs1982073 may contribute to lower susceptibility of OVCF.

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“…IL‐6 was the most focused inflammatory biomarker for OSA (Chu & Li, ; Kaditis et al, ; Kurt, Tosun, & Talay, ; Lopez‐Pascual et al, ; Popko et al, ; Shalitin, Deutsch, & Tauman, ; Wu et al, ; Zhong, Xiong, Shi, & Xu, ). IL‐6 rs1800796, a function variant located in the promoter region of IL‐6 , has been evaluated for its association with many kinds of diseases, including cancers, celiac disease, chronic HBV infection, acute coronary syndrome, ischemic stroke, periodontitis, IgA nephropathy, hip fracture, osteoarthritis, acute chorioamnionitis, etc., (Akinyemi et al, ; Amr, El‐Awady, & Raslan, ; Barartabar et al, ; Du, Gao, Zhang, & Wang, ; Eftekhari et al, ; Fernandes et al, ; Fragoso et al, ; Kaditis et al, ; Konwar, Del Gobbo, Terry, & Robinson, ; Li et al, ; Ponce de Leon‐Suarez et al, ; Tang et al, ; Wang, Chen, Zhao, Zhang, & Yu, ; Wang et al, ; Zhang et al, ; Zhang, Mao, & Sun, ; Zhao, Li, & Li, ). Although two previous studies evaluated the associations of IL‐6 rs1800796 with the development of OSA, the results were not significant, which may be caused by the relatively small sample size (Kaditis et al, ; Zhang et al, ).…”

Section: Discussionmentioning

confidence: 99%

Association study of genetic variations of inflammatory biomarkers with susceptibility and severity of obstructive sleep apnea

Zhang

Wang

Chen

et al. 2019

Molec Gen & Gen Med

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Background Obstructive sleep apnea (OSA) increases health risks of cardiovascular disease and stroke. Both genetic factors and environmental exposures contribute to the occurrence of OSA. The purpose of this study was to determine the role of four functional inflammatory single nucleotide polymorphisms (SNPs) (VWF rs1063856, IL‐6 rs1800796, TNF rs1800629, and CRP rs2794521) in the susceptibility and severity of OSA. Methods A case–control study of OSA among Chinese population was conducted. Genotyping was performed using ABI TaqMan SNP genotyping technique. Results We found VWF rs1063856 (OR = 1.50, 95% CIs = 1.10–2.04; p = 0.010), IL‐6 rs1800796 (OR = 1.32, 95% CIs = 1.11–1.56; p = 0.002), TNF rs1800629 (OR = 1.44, 95% CIs = 1.13–1.83; p = 0.003), and CRP rs2794521 (OR = 1.27, 95% CIs = 1.04–1.55; p = 0.021) were all significantly associated with increased susceptibility of OSA, while VWF rs1063856 (OR = 1.75, 95% CIs = 1.18–2.62; p = 0.006), IL‐6 rs1800796 (OR = 1.39, 95% CIs = 1.10–1.76; p = 0.006) were associated with the severity of OSA. Conclusions Our study indicated that functional variants of inflammatory biomarkers could cause the occurrence of OSA and influence the severity of OSA. These findings further support that inflammatory cytokines were closely related to the occurrence and development of OSA.

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Association of interleukin-6 (rs1800796) but not transforming growth factor beta 1 (rs1800469) with serum calcium levels in osteoporotic patients

Cited by 12 publications

References 50 publications

Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

Association of IL-6 and TGF-β Gene Polymorphisms with the Risk of Thoracolumbar Osteoporotic Vertebral Compression Fractures

Association study of genetic variations of inflammatory biomarkers with susceptibility and severity of obstructive sleep apnea

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