scholarly journals Vitamin D receptor (VDR) gene FokI, BsmI, ApaI and TaqI polymorphisms and osteoporosis risk: a meta-analysis

Author(s):  
Upendra Yadav ◽  
Pradeep Kumar ◽  
Vandana Rai

AbstractOsteoporosis is a bone disease characterized by low bone density. The prevalence of osteoporosis varies between different populations and ethnic groups. Numerous studies have investigated the relationship between VDR gene polymorphisms and osteoporosis across ethnic populations. Present meta-analysis aims to comprehensively evaluate the influence of common FokI, BsmI, ApaI and TaqI VDR gene polymorphisms and osteoporosis. PubMed, Google Scholar, Springer Link and Elsevier databases were searched for eligible studies and all statistical calculations were performed by Open Meta-Analyst software. Studies investigated BsmI (65 studies; 6,880 case/ 8,049 control), ApaI (31 studies; 3,763 case/ 3,934 control), FokI (18 studies; 1,895 case/ 1,722 control), and TaqI (26 studies; 2,458 case/ 2,895 control) polymorphisms were included in the present meta-analysis. Results of meta-analysis revealed significant association between dominant model of FokI (ORff+Ff vs. FF= 1.19, 95% CI= 1.04-1.36, p= 0.01, I2= 39.36%) in overall analysis and recessive model of Caucasian population of TaqI polymorphism (ORTT+Tt vs. tt= 1.35, 95% CI= 1.11-1.63, p= 0.002, I2= 50.07%). While no such effect is found in any other genetic model in any other gene polymorphisms of the overall analyses or sub-group analyses. In conclusion, we found the FokI polymorphism is associated with osteoporosis in overall analysis, also the TaqI polymorphism is a risk factor for the Caucasian population.

Rheumatology ◽  
2020 ◽  
Author(s):  
Hui-Min Li ◽  
Yi Liu ◽  
Ren-Jie Zhang ◽  
Jing-Yu Ding ◽  
Cai-Liang Shen

Abstract Objective To investigate the association of vitamin D receptor (VDR) gene polymorphisms with OA susceptibility. Methods Meta-analyses were performed using allelic contrast, contrast of homozygotes, and recessive and dominant models to clarify the association between OA and VDR ApaI, BsmI, TaqI and FokI polymorphisms. Odds ratio (OR) and the corresponding 95% CI were obtained, and subgroup analyses were performed based on the ethnicity and OA sites. Results A total of 18 studies with 2983 OA patients and 4177 controls were included in this meta-analysis. There were statistically significant associations in the spine between OA susceptibility and the VDR BsmI (B vs b: OR = 1.25, 95% CI: 1.03, 1.53, P = 0.026; BB vs bb: OR = 1.56, 95% CI: 1.02, 2.37, P = 0.038) and TaqI (T vs t: OR = 0.73, 95% CI: 0.54, 0.99, P = 0.044; TT vs Tt + tt: OR = 0.63, 95% CI: 0.42, 0.95, P = 0.028) polymorphisms, but not for the other polymorphisms. A statistically significant association was found between the VDR FokI polymorphism and OA susceptibility in the knee in the recessive model contrast (FF vs Ff + ff: OR = 0.63, 95% CI: 0.42, 0.95, P = 0.028), but this result was only pooled from one study. However, no significant associations were found between the VDR ApaI polymorphism and OA. Besides, ethnic stratification also indicated that there was no significant association between VDR gene polymorphism and OA in Caucasians or Asians. Conclusion Our meta-analysis suggests that the VDR BsmI and TaqI polymorphisms are associated with OA susceptibility in the spine. However, the VDR ApaI polymorphism is not a significant genetic risk factor for OA.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Liang Zhang ◽  
Xin Yin ◽  
Jingcheng Wang ◽  
Daolinag Xu ◽  
Yongxiang Wang ◽  
...  

Editor's Note: this Article has been retracted; the Retraction Note is available at https://doi.org/10.1038/s41598-021-88654-1.


2019 ◽  
Author(s):  
Hong Shen ◽  
Qinglan Liu ◽  
Peng Huang ◽  
Haozhi Fan ◽  
Feng Zang ◽  
...  

Abstract Vitamin D receptor (VDR) is involved in multiple immune-mediated disorders including Oral lichen planus (OLP). This study was aimed to investigate the association between VDR gene polymorphisms and the risk of OLP. 177 OLP patients and 207 healthy participants were recruited from Affiliated Hospital of Stomatology, Nanjing Medical University. Eight single nucleotide polymorphisms (SNPs: rs731236, rs739837, rs757343, rs2107301, rs2239185, rs7975232, rs11574129 and rs11568820) on the VDR gene were selected and genotyped. The results showed that the OLP risk was increased in subjects with the rs2239185 TT genotype (Recessive model: adjusted OR = 2.68, 95% CI = 1.28-5.62, P = 0.009) and rs7975232 CC genotype (Recessive model: adjusted OR = 2.25, 95% CI = 1.10-4.58, P = 0.026). And the significant cumulative effects on OLP risk were found in rs2239185 and rs7975232 (P < 0.01). The haplotype analysis showed that haplotype CC (rs2239185-rs7975232) was associated with increased OLP risk (OR =3.11, 95% CI = 1.42-6.83, P = 0.005), compared with haplotype AC. In conclusion, the variants of VDR rs2239185 and rs7975232 may influence the OLP susceptibility and VDR gene polymorphisms may be the candidate susceptibility region of OLP in Chinese Han population.


Drug Research ◽  
2018 ◽  
Vol 69 (01) ◽  
pp. 23-31
Author(s):  
Kun Zhao ◽  
Ming Yang ◽  
Yanxia Lu ◽  
Shusen Sun ◽  
Wei Li ◽  
...  

Abstract Background and study aim Some studies have reported an association between P2Y12 gene polymorphisms and clopidogrel adverse outcomes with inconsistent results. We aimed to explore the relationship between P2Y12 polymorphisms and the risk of adverse clinical events in patients treated with clopidogrel through a meta-analysis. Methods A systematic search of PubMed, Web of Science and the Cochrane Library was conducted. Retrieved articles were comprehensively reviewed and eligible studies were included, and the relevant data was extracted for this meta-analysis. All statistical tests were performed by the Review Manager 5.3 software. Results A total of 14 studies involving 8,698 patients were included. In the Han Chinese population, ischemic events were associated with P2Y12 T744C polymorphism in the CC vs TT+CT genetic model (OR=3.32, 95%CI=1.62-6.82, P=0.001), and the events were associated with P2Y12 C34T polymorphism in the TT+TC vs CC genetic model (OR=1.70, 95%CI=1.22-2.36, P=0.002). However, ischemic events were not related to P2Y12 G52T polymorphism (TT+TG vs GG: OR=1.13, 95%CI=0.76-1.68, P=0.56; TT vs GG+TG: OR=2.02, 95%CI=0.65-6.28, P=0.22). The associations between the P2Y12 polymorphism and ischemic events were not significant in T744C, G52T and C34T genotype for another subgroup of the Caucasian population (P>0.05). Only two studies referring to bleeding events were included in this analysis of C34T polymorphism, and no significant association was found (TT+TC vs CC: OR=1.07, 95%CI=0.37-3.15, P=0.90). Conclusions In the Caucasian population, P2Y12 gene polymorphisms are not associated with clinical events. However, in the Chinese Han population, P2Y12 T744C and C34T polymorphisms are significantly associated with adverse clinical events.


2019 ◽  
Vol 49 (1-2) ◽  
pp. 166-177 ◽  
Author(s):  
Li Zhang ◽  
Sini Zhang ◽  
Can He ◽  
Xihua Wang

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Yun Zhang ◽  
Wei Xia ◽  
Ping Lu ◽  
Huijuan Yuan

Aims. Studies on the associations of vitamin D receptor (VDR) gene polymorphisms with diabetic retinopathy (DR) susceptibility reported conflicting results. A systematic meta-analysis was undertaken to clarify this topic.Methods. A systematic search of electronic databases (PubMed, EMBASE, and CNKI) was carried out until March 31, 2016. The pooled odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of the association.Results. A total of 7 studies fulfilling the inclusion criteria were included in this meta-analysis (649 cases and 707 controls). Pooled ORs showed a significant association between FokI polymorphism and DR risk in all the four genetic models (OR=1.612(1.354~1.921), 1.988 (1.481~2.668), 1.889 (1.424~2.505), and 2.674 (1.493~4.790) in allelic, dominant, recessive, and additive models, resp.,PZ<0.01), but not for TaqI or BsmI polymorphism (PZ>0.05). Similar results were found in the subgroup analysis. Sensitivity analysis indicated that the results were relatively stable and reliable. Results of Begg’s and Egger’s tests suggested a lack of publication bias.Conclusions. Our meta-analysis demonstrated that DR was significantly associated with VDR gene FokI polymorphism. However, due to the relatively small sample size in this meta-analysis, further studies with a larger sample size should be done to confirm the findings.


2021 ◽  
pp. 107815522098115
Author(s):  
N Louati ◽  
F Turki ◽  
H Mnif ◽  
R Frikha

Background Our study aimed to investigate the association between multidrug resistance (MDR1) C1236T, C3435T and G2677T/A polymorphisms and the response to imatinib (IM) in chronic myeloid leukemia (CML). Materials and methods An electronic databases in PubMed, Embase, Web of Knowledge, Scopus and Cochrane were searched using combinations of keywords relating to MDR1 polymorphisms and the response to IM in CML. Studies retrieved from database searches were screened using strict inclusion and exclusion criteria. Results In total, 37 studies were initially identified, and 17 studies, involving 4494 CML patients, were eventually included in this meta-analysis. Results of our study revealed significant association between MDR1 G2677T/A and C3435T polymorphisms and response to IM in Caucasian population under recessive model (T or A vs G; OR = 1.43,95%CI [1;06-1.93]; T vs C;OR = 1.13; 95%IC [0.79; 1.63]), dominant (T or A vs G; OR = 0.94; 95%CI [0.74–1.21]; T vs C; OR = 1.49; 95%CI [1.02–2.17]) and heterozygous models (T or A vs G; OR = 0.83; 95%CI [0.64; 1.09]; T vs C; OR = 1.52; 95%CI [1.01–2.28]); respectively. However, never significative association was found between IM response and the MDR1 C1236T polymorphism (OR = 1.25; 95%CI [0.46; 3.33]). Conclusion The MDR1 G2677T/A and C3435T polymorphisms might be a risk factor for resistance to IM in Caucasian CML patients.


2019 ◽  
Author(s):  
Hong Shen ◽  
Qinglan Liu ◽  
Peng Huang ◽  
Haozhi Fan ◽  
Feng Zang ◽  
...  

Abstract Vitamin D receptor ( VDR ) is involved in multiple immune-mediated disorders including oral lichen planus (OLP). This study investigated the association between VDR gene polymorphisms and the risk of OLP. In total, 177 OLP patients and 207 healthy participants were recruited from the Affiliated Hospital of Stomatology, Nanjing Medical University. Eight single nucleotide polymorphisms (SNPs: rs731236, rs739837, rs757343, rs2107301, rs2239185, rs7975232, rs11574129 and rs11568820) in the VDR gene were selected and genotyped. The results showed that OLP risk was increased in subjects with the rs2239185 TT genotype (Recessive model: adjusted OR = 2.68, 95% CI = 1.28-5.62, P = 0.009) and rs7975232 CC genotype (Recessive model: adjusted OR = 2.25, 95% CI = 1.10-4.58, P = 0.026). Moreover, rs2239185 and rs7975232 ( P < 0.01) showed significant cumulative effects on OLP risk. .Haplotype analysis showed that the CC haplotype (rs2239185-rs7975232) was associated with an increased risk of OLP (OR =3.11, 95% CI = 1.42-6.83, P = 0.005), compared with the AC haplotype . In conclusion, the rs2239185 and rs7975232 variants of VDR may influence OLP susceptibility, and VDR gene polymorphisms may be candidate susceptibility regions for OLP in a Chinese Han population.


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