Association between g.19163A&gt;G and g.23298T&gt;C genetic variants of the osteoprotegerin gene and bone mineral density in Chinese women

Liu, Shizhang; Yi, Z Kui Xing; Ling, Ming; Shi, Jiyuan

doi:10.14310/horm.2002.1446

Cited by 8 publications

(10 citation statements)

References 43 publications

(37 reference statements)

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“…Previous studies have demonstrated that changes in the OPG serum level are influenced by genetic polymorphisms, including 950T/C at the rs2073617 locus, 1181 G/C at the rs2073618 locus and 1181 G/C at the rs2073618 locus ( 33 – 35 ). The association between genetic polymorphisms in the OPG gene and bone mineral density has been the focus of previous investigations ( 36 , 37 ). Previous studies have implicated increased bone mineral density in the etiology of IDD ( 38 , 39 ); however, few studies have focused on a direct association between OPG genetic polymorphisms and the risk of IDD.…”

Section: Introductionmentioning

confidence: 99%

OPG rs2073617 polymorphism is associated with upregulated OPG protein expression and an increased risk of intervertebral disc degeneration

Xue

Zhan

Wang

et al. 2016

Experimental and Therapeutic Medicine

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The present study aimed to investigate the associations between three distinct osteoprotegerin (OPG) gene polymorphisms and the risk of intervertebral disc degeneration (IDD). A total of 200 IDD patients and 200 healthy controls were recruited from the Department of Spine Surgery at the First Affiliated Hospital of the University of South China (Hengyang, China) between January 2013 and May 2014. The allele, genotype and haplotype frequency distributions of three OPG polymorphisms in the study and control populations were analyzed by polymerase chain reaction prior to restriction fragment length polymorphism or high resolution melting assays. In addition, serum OPG levels were measured via an ELISA. The genotype and allele frequencies of the OPG rs2073617 polymorphisms were significantly higher in the IDD patients, as compared with the control group (P<0.05). Furthermore, carriers of the C allele exhibited a higher risk of IDD, as compared with carriers of the T allele (P<0.001). Conversely, the genotype and allele frequencies of the two other gene polymorphisms, rs2073618 and rs3102735, showed no significant differences between the patients and controls (P>0.05). The serum OPG levels were significantly higher in IDD patients with TT, TC and CC genotypes at the OPG rs2073617 polymorphism, as compared with the control group (P<0.05). Logistic-regression analysis suggested that high serum levels of OPG were positively correlated with IDD risk, whereas the T-C-A, T-G-A and T-G-G haplotypes were negatively correlated with IDD risk (P<0.05). Furthermore, the G-T-G haplotype was associated with protection against IDD (P=0.008), whereas the G-C-G haplotype was associated with an elevated susceptibility to IDD (P=0.007). The results of the present study suggested that OPG rs2073617 polymorphisms and upregulated serum levels of OPG were associated with an increased risk of IDD, whereas the T-C-A, T-G-A and T-G-G haplotypes were protective factors for IDD. The results of the present study suggested that the OPG gene polymorphism may have an important role in the progression of IDD, and its serum level may function as a valuable predictive indicator of the severity of degenerative disc diseases.

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Section: Introductionmentioning

confidence: 99%

OPG rs2073617 polymorphism is associated with upregulated OPG protein expression and an increased risk of intervertebral disc degeneration

Xue

Zhan

Wang

et al. 2016

Experimental and Therapeutic Medicine

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“…Some of these studies show contradictory results in this regard. There are seven polymorphic sites (i.e., Ilu16Thr, Thr20Ilu, Cys87Tyr, Val104Met, Phe117Leu, Cys87Tyr, Cys65Arg) in exon 2 of the OPG gene (6,10,(15)(16)(17)(18). Four of them were mainly studied in Chinese postmenopausal women and the findings confirmed their associations with BMD (10,(15)(16)(17).…”

Section: Discussionmentioning

confidence: 68%

“…Three other sites were indicated to be related to idiopathic hyperphosphatasia phenotypes (severe to mild phenotypes), including deformities and fractures in two girls and one boy in Argentina and Turkey (6). One of these polymorphic sites (Phe117Leu), which was observed in an idiopathic hyperphosphatasia girl in Argentina, was also studied in Chinese women and claimed to be associated with BMD (18). The Cys87Tyr site, which was related to severe phenotype in an idiopathic hyperphosphatasia boy with homozygote form (Tyr/Tyr), may also be a good candidate for investigating the possible association with BMD.…”

Section: Discussionmentioning

confidence: 99%

Investigation of the presence of G354A (Cys87Tyr) mutation in osteoprotegerin gene in women with osteoporosis in Chaharmahal and Bakhtiari province

Mousavi

Dehghan

Pourahmad

2019

J Shahrekord Univ Med Sci

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Background and aims: Osteoprotegerin (OPG) is a competitive inhibitor of the differentiation and activity of osteoclasts, which inhibits the final stages of osteoclast formation and induces its apoptosis. In addition, OPG is considered as one of the most important candidate genes in the pathogenesis of bone diseases such as osteoporosis and idiopathic hyperphosphatasia. The G354A (Cys87Tyr) mutation in the OPG gene leads to idiopathic hyperphosphatasia. This mutation is probably related to osteoporosis. The purpose of this study was to investigate the presence of G354A (Cys87Tyr) in women with osteoporosis in Chaharmahal and Bakhtiari province. Methods: In this descriptive-analytical study, the bone mineral density (BMD) of the femoral neck and lumbar spine of women referring to Shahrekord bone densitometry centers was measured by the X-ray absorptiometry technique in 2013-2014. Based on T-scores, people with osteoporosis were identified and 70 patients were enrolled in the study after receiving their consent. Finally, DNA was extracted from blood samples, amplified by polymerase chain reaction (PCR) technique, and sequenced by DNA sequencing method. Results: After DNA extraction from the blood, the quality and quantity were determined by gel electrophoresis and spectrophotometry, respectively. Then, the gene was amplified by the PCR method and the product was detected by gel electrophoresis, followed by sequencing the samples to investigate the presence of the mutation. Eventually, genotypes associated with Cys87Tyr mutation were not observed in the studied population. Conclusion: In the present study, the G354A (Cys87Tyr) mutation associated with idiopathic hyperphosphatasia was not found in women with osteoporosis.

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“…The OPG gene has been verified as being involved in bone remodeling, bone mineral homeostasis, and bone matrix composition (Liu et al, 2013) neck, and total hip by DEXA. However, to date, no studies have been published that evaluate the relationship of the 1181G>C and 163A>G SNPs of the OPG gene with BMD in patients with T1DM, despite evidence that these polymorphisms are associated with a loss of bone mass (Shang et al, 2013;Song et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

“…As an active component of this system, therefore, polymorphisms in the OPG gene might influence bone metabolism and BMD (Wang et al, 2013;Guo et al, 2014) neck hip and total hip was determined by dual-energy X-ray absorptiometry (DEXA). Although several studies have investigated the association of OPG single nucleotide polymorphisms (SNPs) such as 163A>G, 1181G>C, 245T>G, and 950T>C with BMD and bone disorders (Feng et al, 2012;Liu et al, 2013;Wang et al, 2013;Yu et al, 2013;Guo et al, 2014) which is characterized by a decrease in BMD, the relationship between the 1181G>C and 163A>G SNPs of the OPG gene and T1DM and BMD has not yet been evaluated.…”

Section: Introductionmentioning

confidence: 99%

Relationship between glycemic control and OPG gene polymorphisms with lower bone mineral density in patients with type 1 Diabetes mellitus

Loureiro

Ururahy

Souza

et al. 2018

Braz. J. Pharm. Sci.

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The aim of the present study was to investigate the bone mineral density (BMD) of patients with type 1 Diabetes mellitus (T1DM). We also assessed the association between osteoprotegerin (OPG) genetic polymorphisms and BMD. Genotyping was performed for 1181G>C and 163A>G OPG polymorphisms by allelic discrimination in 119 patients with T1DM and 161 normoglycemic (NG) individuals, aged 6 to 20 years old. Glycemic control, serum parameters of bone metabolism and BMD were evaluated. T1DM patients showed low BMD, poor glycemic control and decreased total calcium values when compared to controls (p < 0.05). For all the polymorphisms studied, the genotype and allele frequencies in patients with T1DM were not significantly different from the controls. In patients with T1DM, carriers of OPG 1181CC showed higher concentrations of ionized calcium compared to patients with GG+GC genotypes. These results suggest that low BMD is associated with poor glycemic control in T1DM. Despite the lack of a detected association between OPG polymorphisms and BMD in these patients, the increased ionized calcium in those carrying OPG 1181CC suggests a possible increase in osteoclastogenesis, a conclusion that may be supported by the lower BMD observed in these subjects.

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Association between g.19163A>G and g.23298T>C genetic variants of the osteoprotegerin gene and bone mineral density in Chinese women

Cited by 8 publications

References 43 publications

OPG rs2073617 polymorphism is associated with upregulated OPG protein expression and an increased risk of intervertebral disc degeneration

OPG rs2073617 polymorphism is associated with upregulated OPG protein expression and an increased risk of intervertebral disc degeneration

Investigation of the presence of G354A (Cys87Tyr) mutation in osteoprotegerin gene in women with osteoporosis in Chaharmahal and Bakhtiari province

Relationship between glycemic control and OPG gene polymorphisms with lower bone mineral density in patients with type 1 Diabetes mellitus

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