Calcium homeostasis modulator 1 gene P86L polymorphism and the risk for alzheimer’s disease: A meta-analysis

Mun, Myung-Jin; Kim, Jin-Ho; Choi, Ji-Young; Jang, Woncheol

doi:10.1016/j.neulet.2016.02.049

Cited by 4 publications

(5 citation statements)

References 28 publications

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“…The role of Ca 2+ homeostasis in AD has also been studied in relation to the association between the P86L polymorphism of calcium homeostasis modulator 1 (CALHM1) and AD risk [ 97 ]. The mutation results in decreased Ca 2+ permeability through these plasma membrane Ca 2+ channels [ 98 ].…”

Section: C Elegans Models To Study the Function Of Presenilinsmentioning

confidence: 99%

Modeling Alzheimer’s Disease in Caenorhabditis elegans

et al. 2022

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Alzheimer’s disease (AD) is the most frequent cause of dementia. After decades of research, we know the importance of the accumulation of protein aggregates such as β-amyloid peptide and phosphorylated tau. We also know that mutations in certain proteins generate early-onset Alzheimer’s disease (EOAD), and many other genes modulate the disease in its sporadic form. However, the precise molecular mechanisms underlying AD pathology are still unclear. Because of ethical limitations, we need to use animal models to investigate these processes. The nematode Caenorhabditis elegans has received considerable attention in the last 25 years, since the first AD models overexpressing Aβ peptide were described. We review here the main results obtained using this model to study AD. We include works studying the basic molecular mechanisms of the disease, as well as those searching for new therapeutic targets. Although this model also has important limitations, the ability of this nematode to generate knock-out or overexpression models of any gene, single or combined, and to carry out toxicity, recovery or survival studies in short timeframes with many individuals and at low cost is difficult to overcome. We can predict that its use as a model for various diseases will certainly continue to increase.

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Section: C Elegans Models To Study the Function Of Presenilinsmentioning

confidence: 99%

Modeling Alzheimer’s Disease in Caenorhabditis elegans

et al. 2022

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“…Therefore, we conducted a case-control study and a meta-analysis to investigate the genetic association between preterm birth and ACE gene I/D polymorphism. A meta-analysis offers an opportunity to quantitatively review overall association data from individual results of the same genetic polymorphism [22]. A meta-analysis is primarily used to combine inconsistent results of previous studies [22].…”

Section: Introductionmentioning

confidence: 99%

“…A meta-analysis offers an opportunity to quantitatively review overall association data from individual results of the same genetic polymorphism [22]. A meta-analysis is primarily used to combine inconsistent results of previous studies [22]. This study is the first attempt to analyze the association between ACE gene I/D polymorphism and PTB in Korean women and to corroborate the results using a meta-analysis.…”

Section: Introductionmentioning

confidence: 99%

Genetic Association of Angiotensin-Converting Enzyme (ACE) Gene I/D Polymorphism with Preterm Birth in Korean Women: Case-Control Study and Meta-Analysis

et al. 2019

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Background and Objectives: The ACE gene encodes the angiotensin-converting enzyme (ACE), a component of the renin-angiotensin system. Increased ACE activity may cause abnormal regulation of placental circulation and angiogenesis, resulting in adverse pregnancy outcomes. Previous studies have reported that the insertion/deletion (I/D) polymorphism of the ACE gene is associated with the development of preterm birth (PTB). However, results of the association between ACE gene I/D and PTB are inconsistent in various populations. Therefore, we performed a case-control study and a meta-analysis to evaluate the association between ACE I/D polymorphism and PTB. Materials and Methods: We analyzed a total of 254 subjects (111 patients with PTB and 143 women at ≥38 weeks gestation) for the case-control study. For the meta-analysis, we searched Google Scholar, PubMed, and NCBI databases with the terms “ACE,” “angiotensin-converting enzyme,” “preterm birth,” “preterm delivery,” and their combinations. Results: Our results of the case-control study indicated that ACE I/D polymorphism is significantly associated with PTBs in the overdominant genetic model (odds ratio (OR) 0.57, 95% confidence interval (CI) 0.347–0.949, p = 0.029) and that the ID genotype of ACE I/D polymorphism has a protective effect for PTB (OR 0.57, 95% CI 0.333–0.986, p = 0.043). Similarly, the meta-analysis showed that the OR for the ACE gene ID genotype was 0.66 (95% CI 0.490–0.900, p < 0.01). Conclusion: The ACE gene ID genotype has a significant association with PTB and is a protective factor for PTB. A larger sample set and functional studies are required to further elucidate of our findings.

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“…In our previous meta-analysis, we included a total of sixteen studies (twenty-four subgroup studies consisting of 9795 cases and 15,335 controls) to evaluate the P86L polymorphism of CALHM1 for the risk of AD [16]. This meta-analysis was searched and selected using the PubMed, Science Direct, Scopus and Google Scholar databases up to Jun 2015 using the search terms "CALHM1" and "polymorphism or SNP or variant" in combination with "Alzheimer's disease".…”

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confidence: 99%

“…The conflicting results between Lambert et al and our meta-analysis have occurred and this could be due to the number of included studies and the subjects from different ethnic groups. In our meta-analysis, we used additional studies involving 3883 subjects from seven studies and additionally included four Asian studies unlike Lambert et al which only consisted of Caucasians [16]. It has been suggested that genotype frequencies according to ethnicity were different, which means these different genotypes may be lead to elucidate different results.…”

mentioning

confidence: 99%