scholarly journals Association between calcium-sensing receptor (CaSR) R990G, CaSR A986S, and CaSR Q1011E gene polymorphisms and the risk of urolithiasis: a meta-analysis

2019 ◽  
Vol 21 (1) ◽  
Author(s):  
Besut Daryanto ◽  
Basuki Bambang Purnomo ◽  
Atma Gunawan ◽  
Fredo Tamara ◽  
Saga Aditya Hutama ◽  
...  

Abstract Backgrounds In the last two decades, studies have been widely carried out to assess the association between single-nucleotide polymorphisms (SNPs) of calcium-sensing receptor (CaSR) gene in exon 7 and the risk of urolithiasis. However, inconsistency across the studies was reported. Therefore, our current study aimed to perform a meta-analysis concerning the association between the risk of urolithiasis and the gene polymorphisms of CaSR R990G, CaSR A986S, and CaSR Q1011E. Methods Published papers from PubMed, Embase, Cohcrane, and Web of science were included for the study, and they were analyzed using fixed or random effect model. Results A total of 11 papers consisting of eight papers evaluating CaSR R990G, nine papers evaluating CaSR A986S, and five papers evaluating CaSR Q1011E were included in our analysis. Our pooled calculation found that protective effect against urolithiasis was observed in R allele and RR genotype of CaSR R990G and A allele and AA genotype of CaSR A986S. Conversely, increased susceptibility to urolithiasis was found in G allele and RG genotype of CaSR R990G and S allele of CaSR A986S. Interestingly, our findings in sub-group analysis confirmed that the correlation between CaSR R990G and urolithiasis was found in Caucasian population. Meanwhile, in Asian population, the association was observed in CaSR A986S. Conclusions CaSR R990G and CaSR A986S, but not CaSR Q1011E, are associated with the risk of urolithiasis.

2019 ◽  
Vol 42 (2) ◽  
pp. e150-e157 ◽  
Author(s):  
R Gupta ◽  
S Gupta ◽  
S Sharma ◽  
D N Sinha ◽  
R Mehrotra

Abstract Background The association of smokeless tobacco (SLT) with stroke has been dealt with in only a few reviews. The present meta-analysis aims to present the updated comprehensive summary risk of stroke in adult SLT users along with sub group analysis. Methods A systematic literature search for articles evaluating risk of stroke in SLT users was conducted. The study characteristics and risk estimates were extracted independently by two authors (RG and SG). Random-effect model was used to estimate the summary relative risks. Results The overall risk of stroke in SLT users was found to be significantly higher (1.17, 95% CI 1.04–1.30) compared to non-users, especially for users in Southeast Asian region. The results remained unchanged even after strict adjustment for smoking (1.18, 95% CI 1.04–1.32). SLT users had 1.34 times or 13.4% higher risk of fatal stroke, though risk of nonfatal stroke was not enhanced. Significantly higher risk of stroke was seen in users of chewing tobacco (1.35, 95% CI 1.20–1.50) in comparison to non-chewers. Gender-based analysis showed enhanced risk of fatal stroke in both male and female users. SLT-attributable fraction of fatal stroke was highest for India at 14.8%. Conclusion The significant higher risk of stroke with SLT use, even after adjustment for smoking, emphasizes the imperative need to include SLT cessation advice for control and prevention of stroke.


2020 ◽  
Vol 11 ◽  
Author(s):  
Ying Sun ◽  
Qing Lu ◽  
Xuefei Tao ◽  
Biao Cheng ◽  
Guoxing Yang

In recent years, the relationship between Cyp2C19*2 gene polymorphism and clopidogrel resistance reflected by platelet function assay has been studied extensively, but there is no clear conclusion yet. In order to evaluate the relationship between Cyp2C19*2 gene polymorphism and clopidogrel resistance more accurately, meta-analysis was conducted in this study. The I2 value taking 50% as the limit, the heterogeneity is judged as high or low, and then a random effect model or a fixed effect model is selected for statistical analysis. PubMed, EMBASE, Web of Science, CNKI, and China Wanfang database were searched, and the related literatures from the establishment of the database to May 2020 were collected and analyzed by STATA 15.0 software. A total of 3,073 patients were involved in 12 studies, including 1,174 patients with clopidogrel resistance and 1,899 patients with non-clopidogrel resistance. The results of this study showed that allele model (A vs. G): OR = 2.42 (95%CI: 1.97–2.98); dominant model (AA+GA vs. GG): OR = 2.74 (95%CI: 2.09–3.59); recessive model (AA vs. GA+GG): OR = 4.07 (95%CI: 3.06–5.41); homozygous model (AA vs. GG): OR = 5.70 (95%CI: 4.22–7.71); heterozygote model (GA vs. GG): OR = 2.32 (95%CI: 1.76–3.07), the differences were statistically significant. Also, the analysis of the Ethnicity subgroup indicated that the Asian allele model and the other four gene models were statistically significant. In conclusion, Cyp2C19*2 gene polymorphism is strongly associated with clopidogrel resistance. Allele A, genotype GA, AA, and GG + GA can increase clopidogrel resistance, especially in the Asian population.


PLoS Genetics ◽  
2010 ◽  
Vol 6 (7) ◽  
pp. e1001035 ◽  
Author(s):  
Karen Kapur ◽  
Toby Johnson ◽  
Noam D. Beckmann ◽  
Joban Sehmi ◽  
Toshiko Tanaka ◽  
...  

2020 ◽  
Author(s):  
Sintayehu Ambachew ◽  
Aklilu Endalamaw ◽  
Belete Biadgo ◽  
Abebaw Worede ◽  
Mulugeta Melku

Abstract Background: The metabolic syndrome is a clustering of hyperglycemia/insulin resistance, hypertension, dyslipidemia and obesity which are risk factors for cardiovascular disease, type 2 diabetes, stroke and all-cause mortality. The burden of metabolic syndrome is emerging alarmingly in low-and middle income countries like Ethiopia. This is the protocol to determine the pooled prevalence of metabolic syndrome in Ethiopian population.Methods: This systematic review and meta-analysis will include original articles of observational studies published in the English language. Searches will be carried out in PubMed, Google Scholar, and Africa Journals up to April 2019. A Fixed/Random-effect model will be used to estimate the pooled prevalence of metabolic syndrome in Ethiopia. Heterogeneity will be assessed using I² statistic. Sub-group analysis will also be conducted based on sex, study subjects, and methodological differences. Funnel plots and egger’s and Begg’s test will be used to asses publication bias.Ethics and dissemination: The review is based on published data; therefore, ethical approval is not required. The systematic review and meta-analysis will summarize the existing data on the prevalence of metabolic syndrome in Ethiopian population. This provides the empirical evidence necessary for researchers, policy-makers, and public health stakeholders to derive health-promoting policies, allocate resources, and set priorities for monitoring future trends. The final result will be presented at annual scientific meetings, conferences, and seminars. Moreover, it will also be published in the peer-reviewed reputable journal. We also plan to review every 5 years to provide updated information.Protocol registration number: PROSPERO International Prospective Register of Systematic Reviews (CRD42018090944)


Author(s):  
Zhifang DENG ◽  
Wenqi GAO ◽  
Wei LUO ◽  
Li AI ◽  
Min HU

Background: The gene polymorphisms in microRNA might relate to susceptibility of type 2 diabetes mellitus (T2DM). However, the results of existing studies were inconsistent and obscure. To investigate the precise associations between microRNA gene polymorphisms and T2DM risk, the present meta-analysis was performed. Methods: The literatures were searched from four electronic databases, PubMed, Embase, CNKI and Wanfang. Subsequently, odds ratios (ORs) and the corresponding 95% confidence intervals (CIs) were both used to evaluate the associations between two single nucleotide polymorphisms (SNPs) (microRNA146a rs2910164 (G>C), microRNA124a rs531564 (C>G)) and risk of T2DM in Asian population. Results: Totally, there were 4 studies included in our present analysis in the language of English and Chinese. There were partly significant associations between susceptibility of T2DM and SNPs (microRNA146a rs2910164 (G>C), microRNA124a rs531564 (C>G)). The G allele in microRNA146a rs2910164 (G>C) and C allele in microRNA124a rs531564 (C>G) both presented remarkably reduced risk of T2DM when compared with the healthy population. Conclusion: The microRNA146a rs2910164 (G allele) and microRNA124a rs531564 (C allele) might function as protective factors in the pathogenetic process of T2DM in Asian population.


2016 ◽  
Vol 36 (4) ◽  
Author(s):  
Yuqin Fan ◽  
Yan Kang ◽  
Min Zhang

The association between copper level and risk of preeclampsia (PE) has produced inconsistent results. Thus, a meta-analysis was conducted to summarize the evidence from epidemiological studies for copper level and PE risk. Pertinent studies were identified by a search of PubMed and Web of Knowledge up to April 2016. Standardized mean difference (SMD) was performed to combine the results. Random-effect model (REM) was used. Publication bias was estimated using Egger's regression asymmetry test. Twelve articles (10 case–control studies and 2 cross-sectional studies) involving 442 PE cases and 463 health controls were included in this meta-analysis. Our pooled results suggested that PE patients had a higher copper level compared with healthy pregnancy controls [summary SMD=0.69, 95% CI: 0.54–0.84, I2=96.7%; P<0.001]. The association was also significant in Asian population [SMD=0.73, 95% CI=0.57–0.90, I2=97.3%] and European populations [SMD=0.50, 95% CI=0.14–0.86, I2=58.9%]. After conducting the subgroup analysis and sensitive analysis, the results showed consistent significant association with the one based on all studies. No publication biases were found. Our analysis indicated that plasma or serum copper level in PE patients was significantly higher than that in healthy pregnancy women.


2011 ◽  
Vol 164 (3) ◽  
pp. 421-427 ◽  
Author(s):  
Giuseppe Vezzoli ◽  
Alfredo Scillitani ◽  
Sabrina Corbetta ◽  
Annalisa Terranegra ◽  
Elena Dogliotti ◽  
...  

Background and objectiveSingle nucleotide polymorphisms (SNPs) of the calcium-sensing receptor (CASR) gene at the regulatory region were associated with idiopathic calcium nephrolithiasis. To confirm their association with nephrolithiasis, we tested patients with primary hyperparathyroidism (PHPT).DesignA genotype–phenotype association study.MethodsIn all, 332 PHPT patients and 453 healthy controls were genotyped for the rs7652589 (G>A) and rs1501899 (G>A) SNPs sited in the noncoding regulatory region of the CASR gene. Allele, haplotype, and diplotype distribution were compared between PHPT patients and controls, and in stone forming and stone-free PHPT patients.ResultsThe allele frequency at rs7652589 and rs1501899 SNPs was similar in PHPT patients and controls. The A minor alleles at these two SNPs were more frequent in stone forming (n=157) than in stone-free (n=175) PHPT patients (rs7652589: 36.9 vs 27.1%, P=0.007; rs1501899: 37.1 vs 26.4%, P=0.003). Accordingly, homozygous or heterozygous PHPT patients for the AA haplotype (n=174, AA/AA or AA/GG diplotype) had an increased stone risk (odds ratio 1.83, 95% confidence interval 1.2–2.9, P=0.008). Furthermore, these PHPT patients had higher serum concentrations of ionized calcium and parathyroid hormone (1.50±0.015 mmol/l and 183±12.2 pg/ml) than patients with the GG/GG diplotype (n=145, 1.47±0.011 mmol/l (P=0.04) and 150±11.4 pg/ml (P=0.049)). Using a logistic regression model, the increase in stone risk in PHPT patients was predicted by AA/AA or AA/GG diplotype, the highest tertile of serum ionized calcium values and the lowest tertile of age.ConclusionsPolymorphisms located in the regulatory region of the CASR gene may increase susceptibility of the PHPT patients to kidney stone production.


Author(s):  
Rana A. Ghalib ◽  
Ruqaya M J Awadh ◽  
Zahraa I Jameel

The calcium-sensing receptor (CaSR) is a calcium (Ca2+) sensitive G protein-coupled receptor implicated in various biological processes. In particular, it regulates Ca2+/Mg2+- homeostasis and senses interstitial Ca2+ levels and thereby controls downstream signalling cascades. The results of PCR-SSCP for CASR gene illustrated that two different haplotypes according to the numbers of bands in the CASR gene including 6 and 7 bands. While, these haplotype was detected between two groups; in hypothrodisum patient groups and control, the results indicate that was association between 6 and 7 bands in patients as compared with a control group. Conclusion: PCR-SSCP Is a good investigation technique to detection Casr gene polymorphisms in patient with hypothyroidism


Author(s):  
Jonny Karunia Fajar ◽  
Melly Susanti ◽  
Budi Susetio Pikir ◽  
Putu Nina Berlinda Saka ◽  
Erdo Puncak Sidarta ◽  
...  

Abstract Background Since first reported having the association with essential hypertension, angiotensin II type 1 receptor (AT1R) A1166C was globally investigated worldwide. However, controversy was found. Furthermore, previous meta-analyses did not adequate to clarify the precise correlation due to some limitations. Therefore, we aimed to perform a meta-analysis concerning the association between AT1R A1166C single-nucleotide polymorphism (SNP) and the risk of essential hypertension with eliminating the limitations of previous studies. Methods A meta-analysis was conducted from February to March 2019. Some information related to sample size of hypertension and control groups and genotype frequencies of hypertension and control groups were extracted from each study. Data were analyzed using fixed or random effect model to determine the overall correlation. Results A total of 45 papers consisting of 11911 cases and 1340 controls were enrolled for the study. Our overall analysis showed that C allele and AC genotype of AT1R A1166C was associated with 1.18-fold and 1.15-fold respectively increased risk of essential hypertension, while the decreased risk of essential hypertension was observed in A allele and AA genotype. In sub-group analysis, increased risk of essential hypertension was found in C allele, AC genotype, and CC genotype of both Asian population and PCR-RFLP sub-groups, while decreased risk was observed in A allele and AA genotype. Conclusions Our meta-analysis reveals that AT1R A1166C remains a valuable SNP having an association with the risk of essential hypertension.


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