scholarly journals Association Analysis between g.18873C>T and g.27522G>A Genetic Polymorphisms ofOPGand Bone Mineral Density in Chinese Postmenopausal Women

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Fei Wang ◽  
Yi Cao ◽  
Fang Li ◽  
Jianlin Shan ◽  
Tianlin Wen
Keyword(s):  
Postmenopausal Women ◽  
Genetic Polymorphisms ◽  
Restriction Site ◽  
Mineral Density ◽  
X Ray ◽  
Potential Association ◽  
Pcr Rflp ◽  
Chinese Postmenopausal Women ◽  
Polymerase Chain ◽  
Created Restriction Site

Several studies report that theOPGis an important candidate gene in the pathogenesis of osteoporosis. This study aimed to detect the potential association ofOPGgene polymorphisms with osteoporosis in postmenopausal women. We recruited 928 subjects containing 463 with primary postmenopausal osteoporosis and 465 healthy volunteers as controls. The BMD of neck hip, lumbar spine (L2–4), and total hip were assessed by dual-energy X-ray absorptiometry (DEXA). Through the created restriction site-polymerase chain reaction (CRS-PCR), PCR-restriction fragment length polymorphism (PCR-RFLP), and DNA sequencing methods, the g.18873C>T and g.27522G>A have been investigated. As for g.18873C>T, our data indicated that subjects with CC genotype have significantly higher BMD value than those of CT and TT genotypes (allPvalues < 0.05). As for g.27522G>A, the BMD values of subjects with GG genotype were significantly higher than those of GA and AA genotypes (allPvalues < 0.05). Our findings suggest that theOPGg.18873C>T and g.27522G>A genetic polymorphisms are associated with the decreased risk for osteoporosis in Chinese postmenopausal women.

scholarly journals Association of Gremlin-2 gene polymorphisms with osteoporosis risk in Chinese postmenopausal women

2020 ◽  
Vol 40 (4) ◽  
Author(s):  
Yu Feng ◽  
Lei Zhu ◽  
Yong Gu ◽  
Ling-Jun Wang ◽  
Bing-Jie Niu ◽  
...  
Keyword(s):  
Postmenopausal Women ◽  
Gene Polymorphisms ◽  
Bone Morphogenetic Protein 2 ◽  
Genotype Distribution ◽  
Bone Homeostasis ◽  
Mineral Density ◽  
Morphogenetic Protein ◽  
Increased Risk ◽  
Chinese Postmenopausal Women ◽  
Polymerase Chain

Abstract The Gremlin-2 (GREM2) plays crucial roles in modulating bone homeostasis through the bone morphogenetic protein-2 pathway. However, GREM2 gene variants in osteoporosis were less frequent in a Chinese population. Therefore, the present study recruited 310 patients with osteoporosis and 339 healthy postmenopausal women to assess the correlation of GREM2 gene polymorphisms with the risk of osteoporosis. Polymerase chain reaction (PCR) and Sanger sequencing were utilized to genotype samples. The results showed that GREM2 gene rs4454537, not rs11588607, polymorphism was significantly associated with an increased risk of osteoporosis in postmenopausal women. Moreover, stratified analyses indicated a significant association between rs4454537 polymorphisms and body mass index of &lt;25 kg/m2. Additionally, the association between GREM2 rs4454537 polymorphism and clinical characteristics was assessed, which showed that this locus decreased the bone mineral density (BMD) in postmenopausal osteoporotic individuals. Furthermore, individuals with CC genotype appeared to have a higher GREM2 expression compared with those bearing the TT genotype of rs4454537 polymorphism. However, the genotype distribution of rs4454537 polymorphism showed no statistical difference between osteoporotic patients as a function of fracture status. In summary, GREM2 rs4454537 polymorphism decreases BMD and increases osteoporotic risk in postmenopausal women.

scholarly journals Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xuan Cai ◽  
Jun Dong ◽  
Teng Lu ◽  
Liqiang Zhi ◽  
Xijing He
Keyword(s):  
Postmenopausal Women ◽  
Chinese Women ◽  
Han Chinese ◽  
Blood Levels ◽  
Nucleotide Polymorphisms ◽  
Mineral Density ◽  
Association Analyses ◽  
Metabolism Disorder ◽  
Increased Risk ◽  
Chinese Postmenopausal Women

Abstract Background Osteoporosis (OP) is a complex bone metabolism disorder characterized by the loss of bone minerals and an increased risk of bone fracture. A recent study reported the relationship of the macrophage erythroblast attacher gene (MAEA) with low bone mineral density in postmenopausal Japanese women. Our study aimed to investigate the association of MAEA with postmenopausal osteoporosis (PMOP) in Han Chinese individuals. Methods A total of 968 unrelated postmenopausal Chinese women comprising 484 patients with PMOP and 484 controls were recruited. Four tag single nucleotide polymorphisms (SNPs) that covered the gene region of MAEA were chosen for genotyping. Single SNP and haplotypic association analyses were performed, and analysis of variance was conducted to test the correlation between blood MAEA protein level and genotypes of associated SNPs. Results SNP rs6815464 was significantly associated with the risk of PMOP. The C allele of rs6815464 was strongly correlated with the decreased risk of PMOP in our study subjects (OR[95% CI]=0.75[0.63-0.89], P=0.0015). Significant differences in MAEA protein blood levels among genotypes of SNP rs6815464 were identified in both the PMOP (F=6.82, P=0.0012) and control groups (F=11.5, P=0.00001). The C allele was positively associated with decreased MAEA protein levels in blood. Conclusion This case-control study on Chinese postmenopausal women suggested an association between SNP rs6815464 of MAEA and PMOP. Further analyses showed that genotypes of SNP rs6815464 were also associated with the blood level of MAEA protein.

TCF7L2 rs7903146 C>T gene polymorphism is not associated with hypoglycemia in sulfonylurea-treated type 2 diabetic patients

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Georgia Ragia ◽  
Evgenia Katsika ◽  
Charalampia Ioannou ◽  
Vangelis G. Manolopoulos
Keyword(s):  
Common Adverse Effect ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Factors Affecting ◽  
Potential Association ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Type 2 Diabetic ◽  
Tcf7l2 Rs7903146

Abstract Objectives Hypoglycemia is the most common adverse effect of sulfonylureas (SUs) and a major concern when using these drugs. Transcription factor 7-like 2 (TCF7L2) rs7903146 C>T polymorphism is an established and well characterized genetic marker of type 2 diabetes (T2DM) risk. The aim of the present study was to analyze the potential association of TCF7L2 rs7903146 C>T polymorphism with SU-induced hypoglycemia in a well characterized cohort of SU-treated patients previously genotyped for cytochrome P450 2C9 (CYP2C9) and P450 oxidoreductase (POR). Methods The study group consisted of 176 SU-treated T2DM patients of whom 92 had experienced at least one drug-associated hypoglycemic event. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for TCF7L2 rs7903146 genotyping. Results TCF7L2 rs7903146 C>T genotype and allele frequency did not differ between cases and controls (p=0.745 and 0.671, respectively). In logistic regression analysis adjusted for other factors affecting hypoglycemia, including CYP2C9 and POR genotypes, TCF7L2 rs7903146 C>T polymorphism did not increase the risk of hypoglycemia (OR=1.238, 95% C.I.=0.750–2.044, p=0.405). Conclusions TCF7L2 rs7903146 C>T polymorphism is not associated with SU-induced hypoglycemia. Identifying additional gene polymorphisms associated with SU-induced hypoglycemia is crucial for improving T2DM patient therapy with SUs.

scholarly journals Nonassociation of Estrogen Receptor Genotypes with Bone Mineral Density and Estrogen Responsiveness to Hormone Replacement Therapy in Korean Postmenopausal Women

1997 ◽  
Vol 82 (4) ◽  
pp. 991-995 ◽  
Author(s):  
Ki Ok Han ◽  
In Gul Moon ◽  
Young Soon Kang ◽  
Ho Yeon Chung ◽  
Hun Ki Min ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Estrogen Receptor ◽  
Hormone Replacement Therapy ◽  
Lumbar Spine ◽  
Replacement Therapy ◽  
Postmenopausal Women ◽  
Gene Locus ◽  
Restriction Site ◽  
Hormone Replacement ◽  
Mineral Density

Abstract Hormone replacement therapy (HRT) prevents bone loss in postmenopausal women, but some women are resistant to therapy. A recently reported case of severe estrogen resistance caused by a germ-line mutation at the estrogen receptor (ER) gene locus suggests the possibility that other variants of the ER gene could be responsible for resistance to HRT and could also be an answer to the heritable components of bone density. Three restriction fragment length polymorphisms (RFLPs) at the ER gene locus, represented as BstUI (or B variant), PvuII, and XbaI, and their relationship to bone mineral density (BMD) and estrogen responsiveness to HRT were examined in 248 healthy postmenopausal women, aged 41–68 yr (mean± sd, 52.0 ± 4.6 yr) in Korea. The BstUI restriction site was not found in Korean women. The distribution of the PvuII and XbaI RFLPs was as follows: PP, 35 (14.1%); Pp, 136 (54.8%); pp, 77 (31.1%); and XX, 18 (7.3%); Xx, 72 (29.0%); and xx, 158 (63.7%), respectively (capital letters signify the absence of and lower case letters signify the presence of the restriction site of each RFLP). There was no significant relation between ER genotypes and z score values of lumbar spine BMD. Also, no significant genotypic differences were found in the change in lumbar spine BMD and those in biochemical markers before and after 1 yr of HRT. These data indicate no significant effects of ER genotypes on BMD and estrogen responsiveness after HRT.

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