-
1.
Trp64Arg polymorphism of the ADRB3 gene associated with maximal fat oxidation and LDL-C levels in non-obese adolescents.
Jesus, ÍC, Alle, LF, Munhoz, EC, Silva, LRD, Lopes, WA, Tureck, LV, Purim, KSM, Titski, ACK, Leite, N
Jornal de pediatria. 2018;(4):425-431
Abstract
OBJECTIVE To analyze the association between the Trp64Arg polymorphism of the ADRB3 gene, maximal fat oxidation rates and the lipid profile levels in non-obese adolescents. METHODS 72 schoolchildren, of both genders, aged between 11 and 17 years, participated in the study. The anthropometric and body composition variables, in addition to total cholesterol, HDL-c, LDL-c, triglycerides, insulin, and basal glycemia, were evaluated. The sample was divided into two groups according to the presence or absence of the polymorphism: non-carriers of the Arg64 allele, i.e., homozygous (Trp64Trp: n=54), and carriers of the Arg64 allele (Trp64Arg+Arg64Arg: n=18), in which the frequency of the Arg64 allele was 15.2%. The maximal oxygen uptake and peak of oxygen uptake during exercise were obtained through the symptom-limited, submaximal treadmill test. Maximal fat oxidation was determined according to the ventilatory ratio proposed in Lusk's table. RESULTS Adolescents carrying the less frequent allele (Trp64Arg and Arg64Arg) had higher LDL-c levels (p=0.031) and lower maximal fat oxidation rates (p=0.038) when compared with non-carriers (Trp64Trp). CONCLUSIONS Although the physiological processes related to lipolysis and lipid metabolism are complex, the presence of the Arg 64 allele was associated with lower rates of FATMAX during aerobic exercise, as well as with higher levels of LDL-c in adolescents.
-
2.
Association between VDR polymorphisms and multiple sclerosis: systematic review and updated meta-analysis of case-control studies.
Zhang, YJ, Zhang, L, Chen, SY, Yang, GJ, Huang, XL, Duan, Y, Yang, LJ, Ye, DQ, Wang, J
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2018;(2):225-234
Abstract
Vitamin D receptor (VDR) polymorphisms have been inconsistently investigated in multiple sclerosis (MS). However, published studies demonstrated differences concerning design and effect size. A meta-analysis is necessary to determine the magnitude of the association between VDR polymorphisms and MS risk. The aim of the current study was to quantify the magnitude of the association between BsmI, FokI, ApaI, and TaqI VDR polymorphisms and MS risk. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we conducted a systematic search and meta-analysis of the VDR gene polymorphisms and the risk of MS. The pooled odds ratios (OR) and 95% confidence interval (CI) were calculated by using Stata Version 11.0 with dominant and recessive models and allele analyses. A total of 4013 cases and 4218 controls in 24 case-control studies were included in the meta-analyses. The results did not indicate an association between any of the VDR polymorphisms and the risk of MS among overall populations, Asians, and Caucasians. However, our subgroup analysis suggests that the A allele was associated with MS risk in Asian populations (P = 0.005, OR = 1.267, 95% CI 1.074-1.496). Interestingly, the sensitivity analysis excluding studies with controls not in HWE showed insignificant association between the A allele and MS risk (P = 0.211), which was different from those in the non-sensitivity analysis. Our preliminary results indicate the VDR gene ApaI, BsmI, FokI, and TaqI polymorphisms may not be associated with elevated MS risk among overall populations. But ApaI polymorphism may confer different susceptibility to MS among different populations, and more well-designed studies with a large sample size are still needed to validate our results.
-
3.
OxLDL plasma levels in patients with Alzheimer's disease.
Grossi, MF, Carvalho, MDG, Silveira, JN, Gonçalves, GS, Gomes, KB, Bicalho, MA, Silva, IFO
Arquivos de neuro-psiquiatria. 2018;(4):241-246
Abstract
OBJECTIVE The objective of this study was to characterize the conventional lipid profile, oxLDL levels and ApoE polymorphism in patients with Alzheimer's disease (AD) and in elderly individuals without cognitive impairment. METHODS Eighty elderly individuals were selected and the levels of oxLDL were determined using the ELISA kit, and ApoE gene polymorphism was investigated using polymerase chain reaction-restriction fragment length polymorphism. RESULTS Significantly reduced levels of oxLDL were observed in patients with AD compared to the control group. A higher frequency of the ApoE ε4 allele was observed in patients with AD compared to controls. No difference was observed for total cholesterol, HDL-C, and LDL-C levels between the two groups, while triglyceride levels were higher in controls compared with patients with AD. CONCLUSION The data analyzed together did not reveal significant differences in lipid profiles, including oxLDL levels. However, the importance of lipid changes in the genesis of the disease cannot be ruled out. Nevertheless, the ApoE ε4 allele was significantly more frequent in patients with Alzheimer's dementia in agreement with previous findings in the literature, but this genetic component did not change the levels of oxLDL.
-
4.
Genetic polymorphisms and periodontal disease in populations of African descent: A review.
Gonçalves, PF, Harris, TH, Elmariah, T, Aukhil, I, Wallace, MR, Shaddox, LM
Journal of periodontal research. 2018;(2):164-173
-
-
Free full text
-
Abstract
Aggressive periodontitis is a rare but rapidly progressing form of periodontal disease that usually affects otherwise systemically healthy individuals, at a young age. It usually affects first molars and incisors, which are usually lost if treatment is not properly and early rendered. Although of low prevalence, it affects individuals of African descent at a higher prevalence, and usually multiple members within the same family. Several studies have been performed in the attempt to evaluate specific single nucleotide polymorphisms (SNPs) that could be associated with this disease. To the best of our knowledge, the present article provides the first review of the literature focusing on studies that evaluated SNPs in patients of African descent with aggressive periodontitis. Several SNPs have been evaluated in different genes according to their role in the pathogenesis of the disease, with positive and negative associations (such as IL1, FCGR3B, FPR1, LTF, CYBA, GLT6D1, TLR4) with both the localized and generalized forms of aggressive periodontitis. Given the complexity of periodontitis, the difficulty in gathering large cohorts diagnosed with this rare form of disease, and the fact that candidate gene studies may only determine part of the genetic risk of a disease, the search for specific SNPs associated with aggressive periodontitis seems to be a long one, most likely to result in the combination of multiple SNPs, in multiple genes.
-
5.
Association between "solute carrier family 30 member 8" (SLC30A8) gene polymorphism and susceptibility to type 2 diabetes mellitus in Chinese Han and minority populations: an updated meta-analysis.
Wang, Y, Duan, L, Yu, S, Liu, X, Han, H, Wang, J, Li, W
Asia Pacific journal of clinical nutrition. 2018;(6):1374-1390
Abstract
BACKGROUND AND OBJECTIVES In China, some studies have been reported that solute carrier family 30 member 8 (SLC30A8) gene polymorphism might increase the risk of T2DM, but some are not. The aim of this meta-analysis was to systematically investigate the association between the rs13266634 polymorphism of the SLC30A8 gene and T2DM in Chinese Han and ethnic minority populations. METHODS AND STUDY DESIGN All published electronic articles were retrieved from Pubmed, Web of Knowledge, Chinese National Knowledge Infrastructure (CNKI), Wanfang database, VIP database and Google scholar. Pooled OR and 95% CI were calculated using random- or fixed-effects models. RESULTS Twenty-five articles involving 62,285 subjects were included in this metaanalysis. Considering the total population, significant associations between the rs13266634 polymorphism and T2DM were observed under the allele model (C vs T: OR=1.23, 95% CI=1.18-1.29), the additive models ( CC vs TT: OR=1.44, 95% CI=1.32-1.56; CC vs CT: OR=1.08, 95% CI=1.02-1.15; CT vs TT: OR=1.25, 95% CI=1.15- 1.37), the dominant model (CC vs CT+TT: OR=1.24, 95% CI=1.17-1.32) and the recessive model (CC+CT vs TT: OR=1.26, 95% CI=1.16-1.35). Based on subgroup analysis, besides the CC vs CT model, these associations were stronger in the ethnic minority groups than in the Han population. Moreover, no association was observed under the CC vs CT model (OR=1.26, 95% CI=0.95-1.66, p=0.105) in ethnic minority groups. CONCLUSIONS Chinese C allele carriers could have an increased risk of T2DM. Well-designed future studies should be conducted with a larger sample size to better understand this association in ethnic minority groups.
-
6.
Associations of the ABCA1 gene polymorphisms with plasma lipid levels: A meta-analysis.
Lu, Z, Luo, Z, Jia, A, Yu, L, Muhammad, I, Zeng, W, Song, Y
Medicine. 2018;(50):e13521
-
-
Free full text
-
Abstract
BACKGROUND Studies on the associations of the adenosine triphosphate-binding cassette transporter A1 gene (ABCA1) rs2230806, rs2230808, and rs2066714 polymorphisms with plasma lipid levels have reported apparently conflicting findings. This meta-analysis aimed to clarify the relationships between the 3 polymorphisms and fasting lipid levels. METHODS A comprehensive search of the literature was carried out by using the databases including Medline, Google Scholar, Web of Science, Embase, Cochrane Library, CNKI, Wanfang, and VIP. The studies that presented mean lipids and standard deviations or standard errors according to the rs2230806, rs2230808, and/or rs2066714 genotypes were examined and included. The random effects model was used. Standardized mean difference and 95% confidence interval were used to assess the differences in lipid levels between the genotypes. Heterogeneity among studies was tested by Cochran's χ-based Q-statistic, and Galbraith plots were used to detect the potential sources of heterogeneity. Publication bias was assessed by Begg's rank correlation test as well as funnel plots. RESULTS Sixty-two studies (48,452 subjects), 12 studies (9853 subjects) and 14 studies (10,727 subjects) were identified for the rs2230806, rs2230808, and rs2066714 polymorphisms, respectively. A dominant model was used for all the polymorphisms in this meta-analysis. The A allele carriers of the rs2230806 polymorphism had higher levels of high-density lipoprotein cholesterol (HDL-C) (P <.001), and lower levels of low-density lipoprotein cholesterol (LDL-C) (P =.03) and triglycerides (TG) (P <.01) than the non-carriers. The A allele carriers of the rs2230808 polymorphism had higher levels of total cholesterol (TC) (P <.001) than the non-carriers. The G allele carriers of the rs2066714 polymorphism had higher levels of TC (P <.01) and HDL-C (P = .02) than the non-carriers. CONCLUSION The ABCA1 rs2230806, rs2230808, and rs2066714 polymorphisms are significantly associated with plasma lipid levels in the present meta-analysis.
-
7.
A systematic meta-analysis of the association of Neuregulin 1 (NRG1), D-amino acid oxidase (DAO), and DAO activator (DAOA)/G72 polymorphisms with schizophrenia.
Jagannath, V, Gerstenberg, M, Correll, CU, Walitza, S, Grünblatt, E
Journal of neural transmission (Vienna, Austria : 1996). 2018;(1):89-102
Abstract
The glutamate hypothesis of schizophrenia is related to the proposed dysregulation of D-amino acid oxidase (DAO), DAO activator (DAOA)/G72, and Neuregulin 1 (NRG1) genes. Genetic studies have shown significant associations between DAO, DAOA, NRG1 single-nucleotide polymorphisms (SNPs), and schizophrenia. The systematic literature search yielded 6, 5, and 18 new studies for DAO, DAOA, and NRG1 published after 2011 and not included in the previous SchizophreniaGene (SZGene) meta-analysis. We conducted meta-analyses of 20, 23, and 48 case-control studies, respectively, to comprehensively evaluate the association of 8 DAO, 12 DAOA, and 14 NRG1 SNPs with schizophrenia. The updated meta-analyses resulted in the following findings: the C-allele of DAO rs4623951 was associated with schizophrenia across all pooled studies [Odds ratio (OR) = 0.88, 95% confidence interval (CI) = 0.79-0.98, p = 0.02, N = 3143]; however, no new reports could be included. The G-allele of DAOA rs778293 was associated with schizophrenia in Asian patients (OR = 1.17, 95% CI = 1.08-1.27, p = 0.00008, N = 6117), and the T-allele of DAOA rs3916971 was associated with schizophrenia across all studies (OR = 0.84, 95% CI = 0.73-0.96, p = 0.01, N = 1765). Again, for both SNPs, no new eligible studies were available. After adding new reports, the T-allele of NRG1 SNP8NRG241930 (rs62510682) across all studies (OR = 0.95, 95% CI = 0.91-0.997, p = 0.04, N = 22,898) and in Caucasian samples (OR = 0.95, 95% CI = 0.90-0.99, p = 0.03, N = 16,014), and the C-allele of NRG1 rs10503929 across all studies (OR = 0.89, 95% CI = 0.81-0.97, p = 0.01, N = 6844) and in Caucasian samples (OR = 0.89, 95% CI = 0.81-0.98, p = 0.01, N = 6414) were protective against schizophrenia. Our systematic meta-analysis is the most updated one for the association of DAO, DAOA, and NRG1 SNPs with schizophrenia.
-
8.
Do genetic polymorphisms of the vitamin D receptor contribute to breast/ovarian cancer? A systematic review and network meta-analysis.
Li, J, Li, B, Jiang, Q, Zhang, Y, Liu, A, Wang, H, Zhang, J, Qin, Q, Hong, Z, Li, BA
Gene. 2018;:211-227
Abstract
BACKGROUND To identify the most suitable genetic model for detecting the risk of breast cancer (BC)/ovarian cancer (OC) in specific populations. METHODS Databases were searched for related studies published up to October 2017. First, VDR genetic polymorphisms were compared in patients with and without cancer. Second, a network meta-analysis was used to reveal the relation between VDR genetic polymorphisms with disease outcomes. Subgroup analyses and a meta-regression were performed according to cancer types, ethnicity and genotypic method. The study is registered in PROSPERO with an ID: CRD42017075505. RESULTS Forty-five studies were eligible, which included 65,754 patients and 55 clinical analyses. Of genetic models, results suggested that the recessive model with the CDX2 polymorphism predicted the risk of BC in all cases. The recessive polymorphism model with the rs2228570 (FokI) polymorphism seemed to the best predictor of BC in Caucasian patients, whereas the homozygote model with the CDX2 polymorphism appeared to best predict BC in African-American patients. The homozygote model with the rs2228570 (FokI) polymorphism model appeared to detect the risk of OC in all cases, whereas the heterozygote model with the rs1544410 (BsmI) polymorphism seemed to detect the risk of OC in Caucasian patients. CONCLUSIONS By detecting the risk of BC, the recessive model with the rs2228570 (FokI) polymorphism is likely the best genetic model in Caucasian patients, and the homozygote model with the CDX2 polymorphism appears to be best genetic model in African-American patients. Moreover, for detecting clinical risk of OC, heterozygote models with the rs1544410 (BsmI) polymorphism is likely the best genetic model for detecting the risk of OC in Caucasian patients.
-
9.
Impact of Vitamin D Receptor Gene Polymorphism on Chronic Renal Failure Susceptibility.
Li, L, Wan, Q, Yang, S, Zhao, S
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy. 2018;(6):575-587
Abstract
Our pooled analysis aimed to assess the impact of vitamin D receptor (VDR) gene polymorphism on chronic renal failure (CRF) susceptibility. Relevant studies were searched from multiple databases, then pooled-analyses were performed using Stata software. Eighteen studies involving 2512 CRF patients and 3630 healthy controls were included. Pooled analysis showed that VDR ApaI and TaqI gene polymorphism were not associated with CRF susceptibility either in Asian or in Caucasians populations, and VDR BsmI and FokI gene polymorphism were not associated with CRF susceptibility in overall populations. The subgroup analysis showed that VDR BsmI gene polymorphism was associated with CRF susceptibility in Chinese under the Allele model (OR = 0.76, 95% CI: 0.59-0.97, P = 0.029). In Spanish individuals, VDR BsmI gene polymorphism was associated with CRF: Recessive model (BB vs. Bb + bb): OR = 1.60, 95% CI: 1.09-2.35, P = 0.016; Additive model (BB + bb vs. Bb): OR = 1.60, 95% CI: 1.21-2.12, P = 0.001). In addition, in the Asian subgroup, VDR FokI gene polymorphism was associated with CRF risk: Allele model (F vs. f): OR = 0.31, 95% CI: 0.16-0.59, P = 0.000; Dominant model (FF + Ff vs. ff): OR = 0.12, 95% CI: 0.03-0.59, P = 0.009 and Recessive model (FF vs. Ff + ff): OR = 0.32, 95% CI: 0.13-0.75, P = 0.009. This pooled analysis showed that VDR BsmI gene polymorphism was associated with CRF risk in the Chinese and Spanish individuals, and, VDR FokI gene polymorphism was associated with CRF risk in Asian subjects. But VDR ApaI and TaqI gene polymorphism were not associated with CRF risk either in Asian or in Caucasian individuals.
-
10.
Association between vitamin D receptor BsmI gene polymorphism and periodontitis: a meta-analysis in a single ethnic group.
Cai, T, Yang, ZY, Nie, L, Zhen, JX, Deng, L, Zhou, Z
Cellular and molecular biology (Noisy-le-Grand, France). 2017;(11):1-4
Abstract
Although many researchers have studied on the association between vitamin D receptor (VDR) BsmI polymorphism and periodontitis, this association remains elusive. To further assess the effects of VDR BsmI polymorphism on the risk of periodontitis, a meta-analysis was performed in a single ethnic group. We searched PubMed and Chinese databases for relevant studies till April 2017. The strength of the associations were assessed used pooled odds ratios (ORs) and 95% confidence intervals (CIs). Six studies including 757 periodontitis cases and 670 controls were identified at last. In the total analyses, VDR BsmI polymorphism was not associated with the risk of periodontitis in all models. The subgroup analyses suggested a significantly reduced risk of periodontitis in South China. In conclusion, our meta-analysis showed that VDR BsmI polymorphism was associated with the decreased risk of periodontitis in Chinese individuals from South China, and further studies in other ethic groups are required for definite conclusions.