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1.
Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis.
Atmoko, W, Raharja, PAR, Birowo, P, Hamid, ARAH, Taher, A, Rasyid, N
PloS one. 2021;(5):e0251235
Abstract
Genetic polymorphisms have been suggested as risk factors affecting the occurrence and recurrence of kidney stones, although findings regarding the latter remain inconclusive. We performed this systematic review and meta-analysis to clarify the associations between genetic polymorphisms and recurrent kidney stones. PubMed, SCOPUS, EMBASE, and Cochrane Library databases were searched through May 28th, 2020 to identify eligible studies. The Quality in prognostic studies (QUIPS) tool was used to evaluate bias risk. Allelic frequencies and different inheritance models were assessed. All analyses were performed using Review manager 5.4. A total of 14 studies were included for meta-analysis, assessing urokinase (ApaL1) and vitamin D receptor (VDR) (ApaI, BsmI, FokI, and TaqI) gene polymorphisms. The ApaLI polymorphism demonstrated protective association in the recessive model [odds ratio (OR) 0.45, P < 0.01] albeit higher risk among Caucasians in the heterozygous model (OR 16.03, P < 0.01). The VDR-ApaI polymorphism showed protective association in the dominant model (OR 0.60, P < 0.01). Among Asians, the VDR-FokI polymorphism recessive model showed significant positive association (OR 1.70, P < 0.01) and the VDR-TaqI polymorphism heterozygous model exhibited protective association (OR 0.72, P < 0.01). The VDR-BsmI polymorphism was not significantly associated with recurrent kidney stones in any model. Urokinase-ApaLI (recessive model), VDR-ApaI (dominant model), and VDR-TaqI (heterozygous model) polymorphisms were associated with decreased recurrent kidney stone risk whereas urokinase-ApaLI (heterozygous model) and VDR-FokI polymorphisms were associated with increased risk among Caucasians and Asians, respectively. These findings will assist in identifying individuals at risk of kidney stone recurrence.
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2.
Exploring the potential impact of nutritionally actionable genetic polymorphisms on idiopathic male infertility: a review of current evidence.
Mahbouli, S, Dupont, C, Elfassy, Y, Lameignère, E, Levy, R
Asian journal of andrology. 2021;(5):441-449
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Abstract
Infertility affects about 15% of the world's population. In 40%-50% of infertile couples, a male factor underlies the problem, but in about 50% of these cases, the etiology of male infertility remains unexplained. Some clinical data show that lifestyle interventions may contribute to male reproductive health. Cessation of unhealthy habits is suggested for preserving male fertility; there is growing evidence that most preexisting comorbidities, such as obesity and metabolic syndrome, are highly likely to have an impact on male fertility. The analysis of genetic polymorphisms implicated in metabolic activity represents one of the most exciting areas in the study of genetic causes of male infertility. Although these polymorphisms are not directly connected with male infertility, they may have a role in specific conditions associated with it, that is, metabolic disorders and oxidative stress pathway genes that are potentially associated with an increased risk of male infertility due to DNA and cell membrane damage. Some studies have examined the impact of individual genetic differences and gene-diet interactions on male infertility, but their results have not been synthesized. We review the current research to identify genetic variants that could be tested to improve the chances of conceiving spontaneously through personalized diet and/or oral vitamin and mineral supplementation, by examining the science of genetic modifiers of dietary factors that affect nutritional status and male fertility.
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Diet and PPARG2 Pro12Ala Polymorphism Interactions in Relation to Cancer Risk: A Systematic Review.
Tran, L, Bobe, G, Arani, G, Zhang, Y, Zhang, Z, Shannon, J, Takata, Y
Nutrients. 2021;(1)
Abstract
Peroxisome proliferator-activated receptor-γ2 gene Pro12Ala allele polymorphism (PPARG2 Pro12Ala; rs1801282) has been linked to both cancer risk and dietary factors. We conducted the first systematic literature review of studies published before December 2020 using the PubMed database to summarize the current evidence on whether dietary factors for cancer may differ by individuals carrying C (common) and/or G (minor) alleles of the PPARG2 Pro12Ala allele polymorphism. The inclusion criteria were observational studies that investigated the association between food or nutrient consumption and risk of incident cancer stratified by PPARG2 Pro12Ala allele polymorphism. From 3815 identified abstracts, nine articles (18,268 participants and 4780 cancer cases) covering three cancer sites (i.e., colon/rectum, prostate, and breast) were included. CG/GG allele carriers were more impacted by dietary factors than CC allele carriers. High levels of protective factors (e.g., carotenoids and prudent dietary patterns) were associated with a lower cancer risk, and high levels of risk factors (e.g., alcohol and refined grains) were associated with a higher cancer risk. In contrast, both CG/GG and CC allele carriers were similarly impacted by dietary fats, well-known PPAR-γ agonists. These findings highlight the complex relation between PPARG2 Pro12Ala allele polymorphism, dietary factors, and cancer risk, which warrant further investigation.
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4.
Are the FTO Gene Polymorphisms Associated with Colorectal Cancer? A Meta-analysis.
Gholamalizadeh, M, Tabrizi, R, Bourbour, F, Rezaei, S, Pourtaheri, A, Badeli, M, Jarrahi, SAM, Akbari, ME, Kalantari, N, Doaei, S
Journal of gastrointestinal cancer. 2021;(3):846-853
Abstract
BACKGROUND Colorectal cancer (CRC) is reported to be associated with some gene polymorphisms. However, the effect of the fat mass and obesity associated (FTO) gene on colorectal cancer is not yet clear. This meta-analysis aimed to investigate the association of the FTO gene polymorphism and colorectal cancer. METHODS PubMed, Web of science, Scopus, and Embase were explored to identify the studies investigating the relationship between rs9939609 and rs17817449 polymorphisms of FTO gene and colorectal cancer, and the published papers from 2000 to 2019 were collected. This meta-analysis was conducted by using a random-effects model for the best estimation of the desired outcomes. RESULTS In this study, 1528 studies were initially included and five eligible case-control studies including 13,460 cases and 22,578 controls were eligible for further analyses. No significant association was found between risk allele of FTO rs9939609 (OR = 0.98, 0.87-1.1) and rs17817449 (OR = 0.9, 0.79-1.03) polymorphisms and colorectal cancer risk. The subgroup analyses considering the source of the control group and race found no significant association between FTO polymorphisms and the risk of colon cancer. CONCLUSIONS This study indicated that rs9939609 and rs17817449 FTO gene polymorphisms are not associated with colorectal cancer risk. Individual studies involving different FTO polymorphisms are needed to further evaluation of the associations between the FTO gene and colon cancer.
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Impact of Genetic Polymorphisms on the Metabolic Pathway of Vitamin D and Survival in Non-Small Cell Lung Cancer.
Pineda Lancheros, LE, Pérez Ramírez, C, Sánchez Martín, A, Gálvez Navas, JM, Martínez Martínez, F, Ramírez Tortosa, MDC, Jiménez Morales, A
Nutrients. 2021;(11)
Abstract
Vitamin D has been associated with risk, development, and progression of cancer. However, the genes involved in its metabolism are highly polymorphic, compromising its activity. The aim of this study is to evaluate the association between the gene polymorphisms involved in the metabolic pathway of vitamin D and survival in patients with non-small-cell lung cancer (NSCLC). The study was designed as an observational cohort which included 194 Caucasians patients from southern Spain with NSCLC. Real-time polymerase chain reaction was used to analyze the following polymorphisms: CYP27B1 rs4646536, rs3782130, and rs10877012; CYP24A1 rs6068816 and rs4809957; GC rs7041; CYP2R1 rs10741657; VDR rs1544410 (BsmI), rs11568820 (Cdx-2), rs2228570 (FokI), rs7975232 (ApaI), and rs731236 (TaqI). Progression-free survival (PFS) and overall survival were assessed. Cox regression showed that rs4646536 was associated with PFS in the general population (p = 0.0233) and in the non-resected NSCLC subgroup (p = 0.0233). In the resected NSCLC subgroup, rs11568820 was associated with OS (p = 0.0129) and rs7041 with PFS (p = 0.0447). In the non-resected NSCLC subgroup, rs6068816 was associated with PFS (p = 0.0048) and OS (p = 0.0089) and rs731236 and rs7975232 were associated with OS (p = 0.0005) and PFS (p = 0.0002), respectively. The other polymorphisms showed no effect on the results. The rs4646536, rs6068816, rs7041, rs11568820, rs731236, and rs7975232 polymorphisms are associated with survival in NSCLC and may have a substantial role as prognostic markers of the disease.
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ATP2B1 gene polymorphisms rs2681472 and rs17249754 are associated with susceptibility to hypertension and blood pressure levels: A systematic review and meta-analysis.
Xie, M, Yuan, S, Zeng, Y, Zheng, C, Yang, Y, Dong, Y, He, Q
Medicine. 2021;(15):e25530
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Abstract
OBJECTIVE The present study aimed to conduct a systematic review and meta-analysis to evaluate the relationships between ATP2B1 gene polymorphisms with blood pressure (BP) level and susceptibility to hypertension. METHODS PubMed, Web of Science, Embase and China National Knowledge Infrastructure (CNKI) Databases were systematically searched by 2 independent researchers to screen studies on ATP2B1 gene polymorphisms and BP related phenotypes. The records retrieval period was limited from the formation of the database to March 4, 2021. Pooled odds rations (ORs) or β and their 95% confidence intervals (95%CI) were calculated to assess the association between ATP2B1 gene polymorphisms and the risk of hypertension or BP levels. Publication bias and sensitivity analysis were conducted to find potential bias. All the statistical analysis were conducted with Stata version 11.0 software. RESULTS A total of 15 articles were ultimately included in the present study, including 15 polymorphisms of ATP2B1 gene. Nine articles (N = 65,362) reported the polymorphism rs17249754, and 7 articles(N = 91,997) reported rs2681472 (both loci were reported in 1 article). Meta-analysis showed that rs17249754 (G/A) and rs2681472 (A/G) were associated with the susceptibility to hypertension (rs17249754: OR = 1.19, 95%CI: 1.10-1.28; rs2681472: OR = 1.15, 95%CI: 1.12-1.17), and were positively associated with systolic BP (SBP) and diastolic blood pressure (DBP) (rs17249754: SBP, β=1.01, 95%CI: 0.86-1.16, DBP, β=0.48, 95%CI: 0.30-0.66; rs2681472: SBP, β=0.92, 95%CI: 0.77-1.07, DBP, β=0.50, 95%CI: 0.42-0.58) in the additive genetic model. Subgroup analysis stratified by race, population, sample size, and BP measurement method revealed that the association between A allele in rs2681472 polymorphism and risk of hypertension was slightly stronger in European (EUR) populations (OR = 1.16, 95%CI: 1.13-1.20) than in East Asians (OR = 1.14, 95%CI: 1.10-1.17). While in East Asians, relation between rs17249754 with risk of hypertension (OR = 1.19, 95%CI: 1.10-1.28) is stronger than rs2681472 (OR = 1.14, 95%CI: 1.10-1.17). CONCLUSIONS Our study demonstrated that ATP2B1 gene polymorphism rs2681472 and rs17249754 were associated with BP levels and the susceptibility to hypertension.
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Comprehensive pharmacogenetic analysis of DPYD, UGT, CDA, and ABCB1 polymorphisms in pancreatic cancer patients receiving mFOLFIRINOX or gemcitabine plus nab-paclitaxel.
Vivaldi, C, Crucitta, S, Catanese, S, Cucchiara, F, Arrigoni, E, Pecora, I, Rofi, E, Fornaro, L, Salani, F, Massa, V, et al
The pharmacogenomics journal. 2021;(2):233-242
Abstract
Modified FOLFIRINOX (mFOLFIRINOX) and gemcitabine + nab-paclitaxel (GemNab) regimens represent a standard treatment in advanced pancreatic cancer (aPC). DPYD and UGT1A1 variants are relevant predictors of fluoropyrimidine and irinotecan-associated adverse events (AEs). Furthermore, data about the associations between polymorphisms in ABCB and CDA genes and GemNab-related toxicities are still controversial. The present study analyzes the association between DPYD, UGT, ABCB1, CDA variants, and AEs in aPC patients (pts) treated with mFOLFIRINOX or GemNab. Blood samples collected from 104 aPC pts treated with mFOLFIRINOX and 63 with GemNab were tested for DPYD c.1679T>G, IVS14+1G>A, c.2194G>A, c.2846A>T, UGT1A1*28, CDA c.79A>C, and ABCB1 c.1236C>T, c.2677G>T/A, c.3435C>T by real-time PCR and automatic sequencing. In mFOLFIRINOX cohort, DPYD IVS14+1GA genotype was associated with G4 hematological AEs, while the UGT1A1*28 significantly correlated with the risk of thrombocytopenia (p = 0.006). In the GemNab cohort, a significant association between CDA c.79CC and high-grade nausea was observed (p = 0.002). Moreover, the presence of at least a mutant allele in ABCB1 increased the risk of overall hematological AEs (p = 0.01), both further strengthened by the presence of CDA c.79CC (p = 0.0002). DPYD IVS14+1A allele is confirmed to be associated with fluoropyrimidine life-threatening toxicities, and UGT1A1*28 is related with a higher risk of hematologic AEs following irinotecan treatment. CDA c.79C and ABCB1 c.1236T, c.2677T/A, and c.3435T mutant alleles are predictive biomarkers of GemNab-related AEs. All these variants should be considered in aPC pts candidate to mFOLFIRINOX or GemNab treatments.
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Associations between vitamin D receptor gene polymorphisms and spinal degenerative disease: evidence from a meta-analysis based on 35 case-control studies.
Gao, S, Xun, C, Xu, T, Cao, R, Zhang, J, Liang, W, Sheng, W
Clinical neurology and neurosurgery. 2021;:106325
Abstract
OBJECTIVE Dozens of reports on the associations of vitamin D receptor (VDR) gene polymorphisms and susceptibility to spinal degenerative disease (SDD) were conducted with inconsistent findings. This study aimed to elucidate the associations through a meta-analysis approach. METHODS Databases of PubMed, EMBASE, Web of Science, CNKI, and Wanfang were searched until July 10, 2020. Study quality was evaluated by using Newcastle-Ottawa Scale (NOS). Odds ratios (ORs) and 95% confidence intervals (95%CIs) were calculated to evaluate the associations under allelic model (1 vs. 2), homozygous model (11 vs. 22), heterozygous model (12 vs. 22), dominant model (11 + 12 vs. 22), and recessive model (11 vs. 12 + 22). RESULTS A total of 5021 cases and 5746 controls from 35 studies were eligible to this meta-analysis. According to NOS, the included studies were in excellent quality. In the overall population, the pooled data indicated that ApaI was associated with a reduced SDD susceptibility (AA vs. Aa + aa, OR = 0.83, 95%CI 0.71 - 0.96, P = 0.010). But the association was not observed in FokI, TaqI, and BsmI polymorphisms. Subgroup analysis suggested that TaqI polymorphism was correlated to an elevated SDD risk in Asians (TT + Tt vs. tt, OR = 2.55, 95%CI 1.90 - 3.44, P < 0.001). CONCLUSION The present study indicates that ApaI polymorphism may contribute to a reduced risk to SDD in the overall population, and TaqI polymorphism confers an elevated susceptibility to SDD in Asians. While, BsmI and FokI polymorphisms appear to have no significant association with SDD.
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Investigations of Associations between Seven Gene Polymorphisms and Gestational Diabetes Mellitus: Evidence From a Meta-Analysis.
Wang, B, Xue, X
Gynecologic and obstetric investigation. 2020;(3):229-236
Abstract
BACKGROUND Associations of polymorphisms in transcription factor 7 like 2 (TCF7L2), tumor necrosis factor-α (TNF-α), vitamin D receptor (VDR), and interleukin-10 with gestational diabetes mellitus (GDM) were already reported by several publications. OBJECTIVES The aim of this meta-analysis was to better clarify associations between these polymorphisms and GDM by combing the results of all relevant publications. METHODS Eligible publications were searched from Pubmed, Embase, WOS, and CNKI. We used Review Manager to combine the results of individual studies. RESULTS Thirty-nine studies were included in this study. Combined results revealed that TCF7L2 rs290487, TCF7L2rs7901695, TCF7L2rs7903146, TCF7L2 rs12255372, TNF-α rs1800629, and VDR FokI rs2228570 polymorphisms were all significantly associated with susceptibility to GDM in the total population. In subgroup analyses, we obtained similar positive findings for rs290487, rs7903146, rs1800629, and rs2228570 polymorphisms in Asians, and positive results were also observed for rs7901695, rs7903146, and rs12255372 polymorphisms in Caucasians. CONCLUSIONS Collectively, this meta-analysis proved that TCF7L2 rs290487, TCF7L2rs7901695, TCF7L2rs7903146, TCF7L2 rs12255372, TNF-α rs1800629, and VDR FokI rs2228570 polymorphisms may confer susceptibility to GDM in certain populations.
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The impact of genetic polymorphisms on weight regain after successful weight loss.
Thonusin, C, Shinlapawittayatorn, K, Chattipakorn, SC, Chattipakorn, N
The British journal of nutrition. 2020;(8):809-823
Abstract
Obesity is associated with an increased risk of various diseases and mortality. Although nearly 50 % of adults have been reported trying to lose weight, the prevalence of obesity has increased. One factor that hinders weight loss-induced decrease in obesity prevalence is weight regain. Although behavioural, psychological and physiological factors associated with weight regain have been reviewed, the information regarding the relationship between weight regain and genetics has not been previously summarised. In this paper, we comprehensively review the association between genetic polymorphisms and weight regain in adults and children with obesity after weight loss. Based on this information, identification of genetic polymorphism in patients who undergo weight loss intervention might be used to estimate their risks of weight regain. Additionally, the genetic-based risk estimation may be used as a guide for physicians and dietitians to provide each of their patients with the most appropriate strategies for weight loss and weight maintenance.