Association of the g.19074G&gt;A genetic variant in the osteoprotegerin gene with bone mineral density in Chinese postmenopausal women

Zhang, Y.D.; Zhang, Z.; Zhou, Na; Jia, Wang; Cheng, Xiaoliang; Wei, Xiaomou

doi:10.4238/2014.august.28.9

Cited by 5 publications

(6 citation statements)

References 41 publications

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“…[53] Many genetic polymorphisms, such as A163G, T245G, T950C and G1181C, A27450T, and G19074A, have been investigated to be associated with BMD and osteoporosis. [54,55]…”

Section: Discussionmentioning

confidence: 99%

The genetic association between osteoprotegerin (OPG) gene polymorphisms and bone mineral density (BMD) in postmenopausal women

et al. 2018

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“…[53] Many genetic polymorphisms, such as A163G, T245G, T950C and G1181C, A27450T, and G19074A, have been investigated to be associated with BMD and osteoporosis. [54,55]…”

Section: Discussionmentioning

confidence: 99%

The genetic association between osteoprotegerin (OPG) gene polymorphisms and bone mineral density (BMD) in postmenopausal women

et al. 2018

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“…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). 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).…”

Section: Discussionmentioning

confidence: 79%

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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“…Moreover, it was indicated that women who were homozygous for Phe117 had higher spine and neck hip BMD in comparison with those who were heterozygous (Phe/Leu) or homozygous (Leu/Leu) for position 117 (21). The same situation was found for women who were homozygous for Cys87 in comparison with those who were heterozygous (Cys/Tyr) or homozygous (Tyr/Tyr) for position 87 (22).…”

Section: Discussionmentioning

confidence: 80%

Mutational Study in the Exon2 of Osteoprotegrin Gene in Osteoporotic Women in Chahar Mahal va Bakhtiari Province of Iran

Dehghan

Jaktaji

Mousavi

2022

Zahedan J Res Med Sci

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Background: Osteoporosis is a multifactorial disease. Mutation in cystein-rich domain2 (CRD2) and cystein-rich domain3 (CRD3) of osteoprotegrin protein can prevent its interaction with receptor activator of nuclear factor kappa beta (RANKL) ligand and lead to osteoporosis. Objectives: This study aimed to investigate the possible alteration in exon2 of the osteoprotegrin gene encoding CRD2 and CRD3 domains in osteoporotic women in Chahar Mahal va Bakhtiari Province of Iran. Methods: The N-terminal region of human osteoprotegerin (OPG) protein was aligned with mice osteoprotegrin proteins using Clustal Omega multiple alignment tool. The genomic DNA of 72 osteoporotic women was extracted by commercial kit. The region of exon2 of the OPG gene encoding CRD2 and CRD3 was amplified by PCR and sequenced by DNA sequencing. Results: The result of multiple protein alignment showed dissimilarities among three species in terms of CRD2 and CRD3 domains. The results of polymerase chain reaction (PCR) amplification and DNA sequencing indicated that CRD2 and CRD3 sequence were intact in osteoporotic women. Conclusion: Due to the binding possibility of OPG protein with RANKL ligand, it was concluded that the expression of OPG gene may have been different in osteoporotic women. However, it was recommended that further studies should be conducted in order to confirm this finding.

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Association of the g.19074G>A genetic variant in the osteoprotegerin gene with bone mineral density in Chinese postmenopausal women

Cited by 5 publications

References 41 publications

The genetic association between osteoprotegerin (OPG) gene polymorphisms and bone mineral density (BMD) in postmenopausal women

The genetic association between osteoprotegerin (OPG) gene polymorphisms and bone mineral density (BMD) in postmenopausal women

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

Mutational Study in the Exon2 of Osteoprotegrin Gene in Osteoporotic Women in Chahar Mahal va Bakhtiari Province of Iran

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