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One-Carbon Metabolism and Nonalcoholic Fatty Liver Disease: The Crosstalk between Nutrients, Microbiota, and Genetics. 单碳代谢和非酒精性脂肪性肝病:营养、微生物群和遗传学之间的串扰。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2019-12-17 DOI: 10.1159/000504602
Anna Radziejewska, Agata Muzsik, Fermín I Milagro, J Alfredo Martínez, Agata Chmurzynska

The prevalence of nonalcoholic fatty liver disease (NAFLD) is increasing worldwide. Its etiology includes nutritional, genetic, and lifestyle factors. Several mechanisms may link one-carbon metabolism - the associated metabolic pathways of folate, methionine, and choline - to the onset of NAFLD. In this review, we attempted to assess how choline, folate, methionine, and betaine affect NAFLD development, mainly through their role in the secretion of very low-density lipoproteins (VLDL) from the liver. We also reviewed recent articles that have described the relation between microbiota metabolism and NAFLD progression. Moreover, we describe the effect of single-nucleotide polymorphisms (SNP) in genes related to one-carbon metabolism and disease prevalence. We additionally seek SNP identified by genome-wide associations that may increase the risk of this disease. Even though the evidence available is not entirely consistent, it seems that the concentrations of choline, methionine, folate, and betaine may affect the progression of NAFLD. Since there is no effective therapy for NAFLD, further investigations into the link between nutrition, gut microbiota, genetic factors, and NAFLD are still necessary, with a particular emphasis on methyl donors.

非酒精性脂肪性肝病(NAFLD)的患病率在全球范围内呈上升趋势。其病因包括营养、遗传和生活方式因素。几种机制可能将单碳代谢——叶酸、蛋氨酸和胆碱的相关代谢途径——与NAFLD的发病联系起来。在这篇综述中,我们试图评估胆碱、叶酸、蛋氨酸和甜菜碱如何影响NAFLD的发展,主要是通过它们在肝脏分泌极低密度脂蛋白(VLDL)中的作用。我们还回顾了最近关于微生物群代谢与NAFLD进展之间关系的文章。此外,我们还描述了单核苷酸多态性(SNP)在与单碳代谢和疾病患病率相关的基因中的作用。我们还寻找可能增加这种疾病风险的全基因组关联鉴定的SNP。尽管现有的证据并不完全一致,但似乎胆碱、蛋氨酸、叶酸和甜菜碱的浓度可能影响NAFLD的进展。由于NAFLD没有有效的治疗方法,因此仍有必要进一步研究营养、肠道微生物群、遗传因素与NAFLD之间的联系,特别强调甲基供体。
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引用次数: 25
Interaction of DRD2/ANKK1 Taq1A Genotype with in-Store Retail Food Environment Exposures on Diet Quality in a Cohort of Quebec Adults. DRD2/ANKK1 Taq1A基因型与店内零售食品环境暴露对魁北克成人饮食质量的相互作用
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2019-12-18 DOI: 10.1159/000504603
Daiva E Nielsen, Yang Han, Catherine Paquet, Andre K Portella, Yu Ma, Laurette Dube

Background/aims: Gene-environment interactions may be relevant for nutrition outcomes. This study assessed the interaction between DRD2/ANKK1 Taq1A genotype and exposures to in-store retail food environment on diet quality.

Methods: CARTaGENE biobank data (n = 3,532) were linked to provincial food retail data. The Canadian adaptation of the Healthy Eating Index 2010 (HEI-C) was calculated from food frequency questionnaires. Generalized linear models adjusted for sociodemographic factors, anthropometrics, and energy intake were used to assess interactions between the Taq1A variant and retail food measures.

Results: A significant inverse interaction was observed between Taq1A and ice cream store displays on HEI-C score (estimate: -15.46 [95% confidence interval (CI): -24.83, -6.10], p = 0.0012) where, among allele carriers, increasing exposure to ice cream displays was associated with a lower HEI-C score as compared to allele carriers with a lower exposure. A significant positive interaction between Taq1A and price of vegetables was also observed, where, among allele carriers, increasing exposure to a higher price was associated with a higher HEI-C score compared to allele carriers with exposure to a lower price (estimate: 2.46 [95% CI: 0.78, 4.14], p = 0.0041). The opposite pattern was observed among non-carriers.

Conclusions: DRD2/ANKK1 Taq1A is associated with adaptive responses to ice cream displays and vegetable prices, suggesting a differential susceptibility to retail environment food cues.

背景/目的:基因-环境相互作用可能与营养结果有关。本研究评估了DRD2/ANKK1 Taq1A基因型与店内零售食品环境暴露对饮食质量的相互作用。方法:CARTaGENE生物银行数据(n = 3532)与省级食品零售数据相关联。加拿大2010年健康饮食指数(HEI-C)是根据食物频率问卷计算得出的。采用调整了社会人口因素、人体测量学和能量摄入的广义线性模型来评估Taq1A变异与零售食品测量之间的相互作用。结果:Taq1A和冰淇淋店陈列对HEI-C评分之间存在显著的负交互作用(估计:-15.46[95%可信区间(CI): -24.83, -6.10], p = 0.0012),其中,在等位基因携带者中,与低暴露的等位基因携带者相比,增加对冰淇淋陈列的暴露与较低的HEI-C评分相关。Taq1A与蔬菜价格之间还观察到显著的正交互作用,其中,在等位基因携带者中,与暴露于较低价格的等位基因携带者相比,暴露于较高价格的等位基因携带者与较高的HEI-C评分相关(估计:2.46 [95% CI: 0.78, 4.14], p = 0.0041)。在非携带者中观察到相反的模式。结论:DRD2/ANKK1 Taq1A与对冰淇淋陈列和蔬菜价格的适应性反应有关,表明对零售环境食物线索的不同敏感性。
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引用次数: 5
Alpinia zerumbet and Its Potential Use as an Herbal Medication for Atherosclerosis: Mechanistic Insights from Cell and Rodent Studies. 荆芥及其作为动脉粥样硬化草药的潜在用途:来自细胞和啮齿动物研究的机制见解。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-09-03 DOI: 10.1159/000508818
Ting Xiao, Jiaoyan Huang, Xiaowei Wang, Linjing Wu, Xue Zhou, Feng Jiang, Zhiyong He, Qianqian Guo, Ling Tao, Xiangchun Shen

Background/aims: Alpinia zerumbet (Pers.) Burtt. et Smith has been used as a flavor additive in food and a traditional medicine for centuries, especially in Guizhou Province, China, and it prolongs people's lives with multiple beneficial effects. Thus, one of the aims of this review was to expound the chemical constituents of this plant, especially its fruits. Since cardiovascular diseases, including atherosclerosis, pose a health threat to humans, another aim was to expound the possible mechanisms of its potential use as an herbal medication for atherosclerosis.

Methods: In this study, 10 reports are cited to expound the potential bioactive compounds. Moreover, 33 reports explain the antihypertensive and antiatherosclerotic effects of the plant by ameliorating inflammation and endothelial dysfunction, increasing vasodilation, improving hyperlipidemia, downgrading the glucose status, and working as an antioxidant.

Results: A. zerumbetis rich in terpenes, essential oils, flavonoids, polyphenolics, and sterols. Pharmacological experiments showed that A. zerumbet has antioxidative and anti-inflammatory effects on the NF-κB signaling pathway and can ameliorate oxidative stress in the NOS-NO signaling pathway. Moreover, A. zerumbet demonstrates antihypertensive effects by accelerating vasorelaxant response and increasing 3T3-L1 intracellular cAMP, which has promising antiobesity properties, as well as hypolipidemic and anti-diabetic complication effects.

Conclusions: A. zerumbet has potential functions and applications in the prevention of atherosclerosis, but further studies are required before clinical trials.

背景/目的:Alpinia zerumbet (Pers.)伯特。几个世纪以来,它一直被用作食品中的风味添加剂和传统药物,特别是在中国贵州省,它具有多种有益的作用,可以延长人们的寿命。因此,本综述的目的之一是阐述这种植物的化学成分,特别是其果实。由于心血管疾病,包括动脉粥样硬化,对人类健康构成威胁,另一个目的是阐明其作为治疗动脉粥样硬化的草药的潜在用途的可能机制。方法:引用10篇文献对其潜在的生物活性成分进行阐述。此外,有33篇报道通过改善炎症和内皮功能障碍、增加血管舒张、改善高脂血症、降低葡萄糖状态和作为抗氧化剂来解释这种植物的抗高血压和抗动脉粥样硬化作用。结果:莪术中含有丰富的萜类、精油、黄酮类、多酚类和甾醇。药理实验表明,枳实对NF-κB信号通路具有抗氧化和抗炎作用,对NOS-NO信号通路的氧化应激有改善作用。此外,枳实通过加速血管舒张反应和增加细胞内3T3-L1 cAMP,显示出抗高血压作用,具有良好的抗肥胖特性,以及降血脂和抗糖尿病并发症的作用。结论:枳实在预防动脉粥样硬化方面具有潜在的功能和应用,但在临床试验前还需进一步研究。
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引用次数: 7
The Association of Parental Genetic, Lifestyle, and Social Determinants of Health with Offspring Overweight. 父母遗传、生活方式和社会健康决定因素与后代超重的关系。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-02-18 DOI: 10.1159/000505749
Catherine A M Graham, Charles R Pedlar, Gary Hearne, Silvia Lorente-Cebrián, Pedro González-Muniesa, Yiannis Mavrommatis

Introduction: In the UK, the number of comorbidities seen in children has increased along with the worsening obesity rate. These comorbidities worsen into adulthood. Genome-wide association studies have highlighted single nucleotide polymorphisms associated with the weight status of adults and offspring individually. To date, in the UK, parental genetic, lifestyle, and social determinants of health have not been investigated alongside one another as influencers of offspring weight status. A comprehensive obesity prevention scheme would commence prior to conception and involve parental intervention including all known risk factors. This current study aims to identify the proportion of overweight that can be explained by known parental risk factors, including genetic, lifestyle, and social determinants of health with offspring weight status in the UK.

Methods: A cross-sectional study was carried out on 123 parents. Parental and offspring anthropometric data and parental lifestyle and social determinants of health data were self-reported. Parental genetic data were collected by use of GeneFiX saliva collection vials and genotype were assessed for brain-derived neurotrophic factor (BDNF) gene rs6265, melanocortin 4 receptor (MC4R) gene rs17782313, transmembrane protein 18 (TMEM18) gene rs2867125, and serine/threonine-protein kinase (TNN13K) gene rs1514175. Associations were assessed between parental data and the weight status of offspring.

Results: Maternal body mass index modestly predicted child weight status (p < 0.015; R2 = 0.15). More mothers of overweight children carried the MC4R rs17782313 risk allele (77.8%; p = 0.007) compared to mothers of normal-weight children. Additionally, fathers who were not Caucasian and parents who slept for <7 h/night had a larger percentage of overweight children when compared to their counterparts (p = 0.039; p = 0.014, respectively).

Conclusion: Associations exist between the weight status of offspring based solely on parental genetic, lifestyle, and social determinants of health data. Further research is required to appropriately address future interventions based on genetic and lifestyle risk groups on a pre-parent cohort.

简介:在英国,随着肥胖率的恶化,儿童的合并症数量也在增加。这些合并症在成年后会恶化。全基因组关联研究强调了与成人和后代体重状况相关的单核苷酸多态性。迄今为止,在英国,父母的遗传、生活方式和健康的社会决定因素还没有作为影响后代体重状况的因素一起进行调查。一项全面的肥胖预防计划将在怀孕前开始,并涉及父母干预,包括所有已知的风险因素。目前的研究旨在确定超重的比例,可以解释已知的父母的风险因素,包括遗传,生活方式和社会决定因素的健康与后代体重状况在英国。方法:对123名家长进行横断面调查。父母和子女的人体测量数据以及父母的生活方式和健康的社会决定因素数据是自我报告的。采用GeneFiX唾液收集瓶收集亲本遗传数据,并对脑源性神经营养因子(BDNF)基因rs6265、黑素皮素4受体(MC4R)基因rs17782313、跨膜蛋白18 (TMEM18)基因rs2867125、丝氨酸/苏氨酸蛋白激酶(TNN13K)基因rs1514175进行基因型分析。评估了亲代数据与后代体重状况之间的关联。结果:母亲体重指数可适度预测儿童体重状况(p < 0.015;R2 = 0.15)。更多超重儿童的母亲携带MC4R rs17782313风险等位基因(77.8%;P = 0.007)。此外,非白种人的父亲和睡过觉的父母结论:后代的体重状况之间存在关联,这仅仅基于父母的遗传、生活方式和健康数据的社会决定因素。需要进一步的研究来适当地解决基于遗传和生活方式风险群体的未来干预措施。
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引用次数: 4
Lack of Association between LCT_rs140433552*CA>del Indel Polymorphism and Lactose Intolerance in a Southern Brazilian Population. 巴西南部人群LCT_rs140433552*CA>del Indel多态性与乳糖不耐症缺乏相关性
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-07-13 DOI: 10.1159/000508509
Luana Caroline Oliveira, Andrey Lucas Dias Barros, Angelica Beate Winter Boldt, Gabriel Adelman Cipolla

Background/aims: Polymorphisms in the enhancer of the lactase gene (LCT) are strongly associated with lactase persistence, but not always predictive of the phenotype. We investigated a possible association between the regulatory rs140433552*CA>del variant of LCT and lactose intolerance (LI).

Methods: We genotyped 122 individuals for rs140433552 and rs4988235 (-13910*C>T).

Results: Associations of rs140433552*CA>del with LI depend on -13910*C>T. Homozygous individuals for the C-CA haplotype, as well as C-CA+/C individuals, seem more likely to manifest LI (OR 3.33 [95% CI 1.32-8.35], p = 0.011, and OR 3.93 [95% CI 1.61-9.61], p = 0.003, respectively), while homozygous individuals for the T-CA haplotype seem more likely to be lactose tolerant (OR 0.04 [95% CI 0.002-0.70], p = 8 × 10-4).

Conclusions: rs140433552*CA>del is not independently associated with LI.

背景/目的:乳糖酶基因增强子(LCT)的多态性与乳糖酶持久性密切相关,但并不总是预测表型。我们研究了LCT的调控rs140433552*CA>del变异与乳糖不耐症(LI)之间的可能关联。方法:对122例个体进行rs140433552和rs4988235基因分型(-13910*C>T)。结果:rs140433552*CA>del与LI的相关性依赖于-13910*C>T。C- ca单倍型纯合个体以及C- ca +/C个体似乎更容易出现LI (OR分别为3.33 [95% CI 1.32-8.35], p = 0.011, OR为3.93 [95% CI 1.61-9.61], p = 0.003),而T-CA单倍型纯合个体似乎更容易出现乳糖耐受(OR为0.04 [95% CI 0.002-0.70], p = 8 × 10-4)。结论:rs140433552*CA>del与LI不独立相关。
{"title":"Lack of Association between LCT_rs140433552*CA>del Indel Polymorphism and Lactose Intolerance in a Southern Brazilian Population.","authors":"Luana Caroline Oliveira,&nbsp;Andrey Lucas Dias Barros,&nbsp;Angelica Beate Winter Boldt,&nbsp;Gabriel Adelman Cipolla","doi":"10.1159/000508509","DOIUrl":"https://doi.org/10.1159/000508509","url":null,"abstract":"<p><strong>Background/aims: </strong>Polymorphisms in the enhancer of the lactase gene (LCT) are strongly associated with lactase persistence, but not always predictive of the phenotype. We investigated a possible association between the regulatory rs140433552*CA>del variant of LCT and lactose intolerance (LI).</p><p><strong>Methods: </strong>We genotyped 122 individuals for rs140433552 and rs4988235 (-13910*C>T).</p><p><strong>Results: </strong>Associations of rs140433552*CA>del with LI depend on -13910*C>T. Homozygous individuals for the C-CA haplotype, as well as C-CA+/C individuals, seem more likely to manifest LI (OR 3.33 [95% CI 1.32-8.35], p = 0.011, and OR 3.93 [95% CI 1.61-9.61], p = 0.003, respectively), while homozygous individuals for the T-CA haplotype seem more likely to be lactose tolerant (OR 0.04 [95% CI 0.002-0.70], p = 8 × 10-4).</p><p><strong>Conclusions: </strong>rs140433552*CA>del is not independently associated with LI.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":"13 4","pages":"129-133"},"PeriodicalIF":2.6,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508509","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38150025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ximenynic Acid Regulation of n-3 PUFA Content in Liver and Brain. 西美尼酸对肝、脑n-3 PUFA含量的调节作用。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-02-07 DOI: 10.1159/000502773
Fang Cai, Yandi Liu, Dhanushka S Hettiarachichi, Fenglei Wang, Jie Li, Bruce Sunderland, Duo Li

Background/aims: Ximenynic acid is a rare conjugated enyne fatty acid found primarily in plants in the Santalaceae family. It has been reported that sandalwood seed oil (SWSO) affects fatty acid metabolism in animal studies; however, the effects of pure ximenynic acid remain unclear. The present study aimed to study the impact of SWSO and ximenynic acid on n-3 fatty acid metabolism in the liver and brain.

Methods: Thirty C57BL/6 male mice aged 4 weeks were fed SWSO (1.0 mL/20 g bodyweight), olive oil (OO), or a combination of SWSO and OO (n = 10/group) for 8 weeks. Liver and brain fatty acid compositions were determined using gas chromatography. HepG2 cells were treated with up to 150 μM ximenynic acid and oleic acid for 48-72 h. The expression and abundance of genes and proteins relevant to n-3 fatty acid metabolism pathways were investigated.

Results: The intake of SWSO in mice elevated the levels of total n-3 fatty acids and decreased total n-9 fatty acids in the liver (p < 0.05) compared with the OO group. In contrast, total n-3 fatty acids were significantly decreased in the brain (p < 0.05). HepG2 cells treated with ximenynic acid for 48 h showed significant reductions in n-9 fatty acids and docosahexaenoic acid (C22:6n-3) (p < 0.05) compared with HepG2 cells treated with oleic acid. In HepG2 cells, stearoyl-CoA desaturase (SCD) and fatty acid desaturase 2 (FADS2) gene expression, as well as FADS2 protein expression, were significantly down-regulated after a 72-h incubation with 150 μM of ximenynic acid compared with the vehicle (p < 0.05).

Conclusion: Ximenynic acid may regulate fatty acid metabolism by suppressing the expression of key enzymes of lipid metabolism. In contrast, SWSO, which has a high level of C18:3n-3, positively affected n-3 fatty acid synthesis in mouse liver compared to pure ximenynic acid. We hypothesize that a high level of precursor C18:3n-3 in SWSO promotes the endogenous synthesis of C22:6n-3 despite the presence of ximenynic acid.

背景/目的:Ximenynic acid是一种罕见的共轭烯脂肪酸,主要存在于Santalaceae植物中。据报道,檀香籽油(SWSO)在动物实验中影响脂肪酸代谢;然而,纯西门尼酸的效果尚不清楚。本研究旨在研究SWSO和ximenynic酸对肝脏和大脑n-3脂肪酸代谢的影响。方法:4周龄C57BL/6雄性小鼠30只,分别饲喂SWSO (1.0 mL/20 g体重)、橄榄油(OO)或SWSO与OO混合饲喂(n = 10/组)8周。采用气相色谱法测定肝、脑脂肪酸组成。以150 μM的ximenyic酸和油酸处理HepG2细胞48 ~ 72 h,观察n-3脂肪酸代谢途径相关基因和蛋白的表达和丰度。结果:与OO组相比,SWSO可使小鼠肝脏总n-3脂肪酸水平升高,总n-9脂肪酸水平降低(p < 0.05)。相比之下,脑内总n-3脂肪酸显著减少(p < 0.05)。与油酸处理HepG2细胞相比,ximenynic酸处理48 h后,HepG2细胞n-9脂肪酸和二十二碳六烯酸(C22:6n-3)含量显著降低(p < 0.05)。在HepG2细胞中,150 μM的ximenynic酸作用72 h后,硬脂酰辅酶a去饱和酶(SCD)和脂肪酸去饱和酶2 (FADS2)基因表达及FADS2蛋白表达均显著下调(p < 0.05)。结论:希美尼酸可能通过抑制脂质代谢关键酶的表达来调节脂肪酸代谢。相比之下,SWSO具有高水平的C18:3n-3,与纯希美尼酸相比,SWSO对小鼠肝脏中n-3脂肪酸的合成有积极影响。我们假设,尽管存在西美尼酸,SWSO中高水平的前体C18:3n-3促进内源性C22:6n-3的合成。
{"title":"Ximenynic Acid Regulation of n-3 PUFA Content in Liver and Brain.","authors":"Fang Cai,&nbsp;Yandi Liu,&nbsp;Dhanushka S Hettiarachichi,&nbsp;Fenglei Wang,&nbsp;Jie Li,&nbsp;Bruce Sunderland,&nbsp;Duo Li","doi":"10.1159/000502773","DOIUrl":"https://doi.org/10.1159/000502773","url":null,"abstract":"<p><strong>Background/aims: </strong>Ximenynic acid is a rare conjugated enyne fatty acid found primarily in plants in the Santalaceae family. It has been reported that sandalwood seed oil (SWSO) affects fatty acid metabolism in animal studies; however, the effects of pure ximenynic acid remain unclear. The present study aimed to study the impact of SWSO and ximenynic acid on n-3 fatty acid metabolism in the liver and brain.</p><p><strong>Methods: </strong>Thirty C57BL/6 male mice aged 4 weeks were fed SWSO (1.0 mL/20 g bodyweight), olive oil (OO), or a combination of SWSO and OO (n = 10/group) for 8 weeks. Liver and brain fatty acid compositions were determined using gas chromatography. HepG2 cells were treated with up to 150 μM ximenynic acid and oleic acid for 48-72 h. The expression and abundance of genes and proteins relevant to n-3 fatty acid metabolism pathways were investigated.</p><p><strong>Results: </strong>The intake of SWSO in mice elevated the levels of total n-3 fatty acids and decreased total n-9 fatty acids in the liver (p < 0.05) compared with the OO group. In contrast, total n-3 fatty acids were significantly decreased in the brain (p < 0.05). HepG2 cells treated with ximenynic acid for 48 h showed significant reductions in n-9 fatty acids and docosahexaenoic acid (C22:6n-3) (p < 0.05) compared with HepG2 cells treated with oleic acid. In HepG2 cells, stearoyl-CoA desaturase (SCD) and fatty acid desaturase 2 (FADS2) gene expression, as well as FADS2 protein expression, were significantly down-regulated after a 72-h incubation with 150 μM of ximenynic acid compared with the vehicle (p < 0.05).</p><p><strong>Conclusion: </strong>Ximenynic acid may regulate fatty acid metabolism by suppressing the expression of key enzymes of lipid metabolism. In contrast, SWSO, which has a high level of C18:3n-3, positively affected n-3 fatty acid synthesis in mouse liver compared to pure ximenynic acid. We hypothesize that a high level of precursor C18:3n-3 in SWSO promotes the endogenous synthesis of C22:6n-3 despite the presence of ximenynic acid.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":"13 2","pages":"64-73"},"PeriodicalIF":2.6,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000502773","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37625460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Investigation of the Causal Association between Long-Chain n-6 Polyunsaturated Fatty Acid Synthesis and the Risk of Type 2 Diabetes: A Mendelian Randomization Analysis. 长链n-6多不饱和脂肪酸合成与2型糖尿病风险的因果关系研究:孟德尔随机分析
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-08-13 DOI: 10.1159/000509663
Michael A Zulyniak, Harriett Fuller, Mark M Iles

Background: Globally, 1 in 11 adults has diabetes mellitus, and most of these cases are type 2 diabetes (T2D). The risk of T2D is influenced by many factors, including diet. The synthesis of long-chain n-6 polyunsaturated fatty acids (LC n-6 PUFA) has been posited as a risk factor for T2D; however, its causal role is uncertain.

Aim: To test the causal effect of LC n-6 PUFA synthesis on insulin resistance and transgenerational T2D risk in a large cohort of men and women.

Methods: Two-sample mendelian randomization (MR) was conducted to evaluate the effect of low or high levels of LC n-6 PUFA synthesis on glycemia and development of T2D in the UK Biobank (n = 463,010) and Meta-Analysis of Glucose- and Insulin-Related Traits Consortium (MAGIC; n = 5,130) cohorts. The increased likelihood of a predisposition to low or high LC n-6 PUFA synthesis and the risk of T2D was also investigated using the participants' siblings and parents. In MR-Base, 4 genetic variants associated with LC n-6 PUFA synthesis were found (p < 10-8). After pruning, 1 variant (rs174547) on the FADS1 gene was retained.

Results: Lower LC n-6 PUFA synthesis and abundance (per % unit decrease) are associated with small reductions in the insulin disposition index (-0.038 ± 0.012 mM-1; p = 0.002) within MAGIC. In the UK Biobank, we report negligible effects of low n-6 PUFA synthesis on the odds of T2D (OR <1%; p < 0.05). Additionally, reduced LC n-6 PUFA synthesis does not appear to be a contributor to familial T2D risk. No significant association was observed between LC n-6 PUFA synthesis and BMI.

Conclusion: In a primarily white European population, LC n-6 PUFA synthesis is not a major contributor to T2D risk.

背景:在全球范围内,每11个成年人中就有1个患有糖尿病,其中大多数是2型糖尿病(T2D)。糖尿病的风险受许多因素的影响,包括饮食。长链n-6多不饱和脂肪酸(LC n-6 PUFA)的合成被认为是T2D的危险因素;然而,其因果关系尚不确定。目的:检验LC n-6 PUFA合成对一大群男性和女性胰岛素抵抗和跨代T2D风险的因果关系。方法:采用双样本孟德尔随机化(MR)来评估低水平或高水平的LC n-6 PUFA合成对英国生物银行(n = 463,010)和葡萄糖和胰岛素相关性状联盟(MAGIC;N = 5130)队列。还通过参与者的兄弟姐妹和父母调查了低或高LC n-6 PUFA合成倾向和T2D风险增加的可能性。在MR-Base中,发现了4个与LC n-6 PUFA合成相关的遗传变异(p < 10-8)。修剪后,FADS1基因上保留了1个变异(rs174547)。结果:较低的LC n-6 PUFA合成和丰度(每%单位减少)与胰岛素处置指数的小幅降低相关(-0.038±0.012 mM-1;p = 0.002)。在英国生物银行,我们报告了低n-6 PUFA合成对T2D几率的影响可以忽略不计(OR)结论:在主要是白人的欧洲人群中,低n-6 PUFA合成并不是T2D风险的主要因素。
{"title":"Investigation of the Causal Association between Long-Chain n-6 Polyunsaturated Fatty Acid Synthesis and the Risk of Type 2 Diabetes: A Mendelian Randomization Analysis.","authors":"Michael A Zulyniak,&nbsp;Harriett Fuller,&nbsp;Mark M Iles","doi":"10.1159/000509663","DOIUrl":"https://doi.org/10.1159/000509663","url":null,"abstract":"<p><strong>Background: </strong>Globally, 1 in 11 adults has diabetes mellitus, and most of these cases are type 2 diabetes (T2D). The risk of T2D is influenced by many factors, including diet. The synthesis of long-chain n-6 polyunsaturated fatty acids (LC n-6 PUFA) has been posited as a risk factor for T2D; however, its causal role is uncertain.</p><p><strong>Aim: </strong>To test the causal effect of LC n-6 PUFA synthesis on insulin resistance and transgenerational T2D risk in a large cohort of men and women.</p><p><strong>Methods: </strong>Two-sample mendelian randomization (MR) was conducted to evaluate the effect of low or high levels of LC n-6 PUFA synthesis on glycemia and development of T2D in the UK Biobank (n = 463,010) and Meta-Analysis of Glucose- and Insulin-Related Traits Consortium (MAGIC; n = 5,130) cohorts. The increased likelihood of a predisposition to low or high LC n-6 PUFA synthesis and the risk of T2D was also investigated using the participants' siblings and parents. In MR-Base, 4 genetic variants associated with LC n-6 PUFA synthesis were found (p < 10-8). After pruning, 1 variant (rs174547) on the FADS1 gene was retained.</p><p><strong>Results: </strong>Lower LC n-6 PUFA synthesis and abundance (per % unit decrease) are associated with small reductions in the insulin disposition index (-0.038 ± 0.012 mM-1; p = 0.002) within MAGIC. In the UK Biobank, we report negligible effects of low n-6 PUFA synthesis on the odds of T2D (OR <1%; p < 0.05). Additionally, reduced LC n-6 PUFA synthesis does not appear to be a contributor to familial T2D risk. No significant association was observed between LC n-6 PUFA synthesis and BMI.</p><p><strong>Conclusion: </strong>In a primarily white European population, LC n-6 PUFA synthesis is not a major contributor to T2D risk.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":"13 5","pages":"146-153"},"PeriodicalIF":2.6,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000509663","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38269689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 9
Interaction between Vascular Endothelial Growth Factor-A (rs2010963) Gene Polymorphisms and Dietary Diversity Score on Cardiovascular Risk Factors in Patients with Metabolic Syndrome 血管内皮生长因子- a (rs2010963)基因多态性与代谢综合征患者心血管危险因素饮食多样性评分的相互作用
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2019-11-29 DOI: 10.1159/000503789
M. Abbasalizad Farhangi, M. Vajdi, L. Nikniaz, Zeinab Nikniaz
Background: The vascular endothelial growth factor-A (VEGFA) family of cytokines regulates proliferation, angiogenesis, and migration of endothelial cells, increases vascular permeability, and controls thrombogenicity. Recent studies have suggested that the VEGFA gene plays an important role in the pathogenesis of metabolic syndrome and its related disorders. Dietary diversity score (DDS) has also been shown to have potential favorable effects against features of metabolic syndrome. This study examined the interactions between +405 VEGFA C/G (rs2010963) polymorphism and DDS on the metabolic and biochemical profile of metabolic syndrome. Therefore, in the current study, we aimed to evaluate the interaction between DDS and VEGFA rs2010963 gene polymorphisms in modification of metabolic risk factors including serum lipids, blood pressure, serum adiponectin, and matrix metalloproteinase (MMP)-3 concentrations in patients with metabolic syndrome. Methods and Materials: In the current cross-sectional study, 254 patients with metabolic syndrome were recruited. Measurements of blood pressure, anthropometric parameters, and dietary intakes were performed and the DDS was calculated. Biochemical variables including serum adiponectin concentrations, lipid profile, serum glucose, and MMP-3 concentrations were measured by enzyme-linked immunosorbent assay method (ELISA) and enzymatic colorimetric methods. Determination of +405 C/G VEGFA gene polymorphisms was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: Patients in the lowest DDS quartile had higher insulin and homeostatic model assessment of insulin resistance (HOMA-IR), while patients in the highest DDS quartile had higher quantitative insulin check index (QUICKI; p < 0.05). Higher serum triglyceride and systolic blood pressure (SBP) values and lower serum adiponectin concentrations were also observed in lower DDS quartiles (p < 0.05). Patients with the CC genotype in the VEGFA rs2010963 polymorphism had significantly higher body mass index (BMI), fasting blood glucose, aspartate aminotransferase (AST), and alanine aminotransferase (ALT; p < 0.05) compared to patients with the other 2 genotypes. In lower quartiles of DDS, 30% of patients with metabolic syndrome had the GG genotype, while 30.4 and 30.8% of patients with metabolic syndrome in higher DDS quartiles had GC and CC genotypes, respectively (p = 0.04). Conclusion: Our study found lower insulin resistance, serum triglyceride, and SBP and higher adiponectin concentrations among patients with metabolic syndrome in highest quartiles of DDS. Moreover, patients with the CC genotype were more likely to have higher BMI, fasting blood glucose, AST, and ALT. This significant interaction gives a possible evidence of a VEGFA-DDS association that may be relevant to metabolic syndrome. Further studies are warranted to clarify the underlying mechanisms of these interactions.
背景:血管内皮生长因子-A(VEGFA)家族的细胞因子调节内皮细胞的增殖、血管生成和迁移,增加血管通透性,并控制血栓形成。最近的研究表明,VEGFA基因在代谢综合征及其相关疾病的发病机制中发挥着重要作用。饮食多样性评分(DDS)也被证明对代谢综合征的特征具有潜在的有利影响。本研究检测了+405 VEGFA C/G(rs2010963)多态性和DDS在代谢综合征代谢和生化特征上的相互作用。因此,在本研究中,我们旨在评估DDS和VEGFA rs2010963基因多态性在代谢综合征患者代谢危险因素(包括血脂、血压、血清脂联素和基质金属蛋白酶(MMP)-3浓度)改变中的相互作用。方法和材料:在目前的横断面研究中,254名代谢综合征患者被招募。测量血压、人体测量参数和饮食摄入量,并计算DDS。采用酶联免疫吸附测定法(ELISA)和酶比色法测定血清脂联素浓度、血脂、血糖和MMP-3浓度等生化指标。采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术测定+405 C/G VEGFA基因多态性。结果:DDS最低四分位数的患者具有较高的胰岛素和胰岛素抵抗稳态模型评估(HOMA-IR),而DDS最高四分位数的患者具有较高的胰岛素定量检查指数(QUICKI;p<0.05)。DDS较低四分位数也观察到较高的血清甘油三酯和收缩压(SBP)值和较低的血清脂联素浓度(p<0.05)。VEGFA rs2010963多态性中的CC基因型患者具有显著较高的体重指数(BMI),与其他2种基因型的患者相比,空腹血糖、天冬氨酸转氨酶(AST)和丙氨酸转氨酶(ALT;p<0.05)。在DDS较低的四分位数中,30%的代谢综合征患者具有GG基因型,而在DDS较高的四分位中,分别有30.4%和30.8%的代谢综合症患者具有GC和CC基因型(p=0.04),在DDS最高四分位数的代谢综合征患者中,SBP和更高的脂联素浓度。此外,CC基因型患者更有可能具有更高的BMI、空腹血糖、AST和ALT。这种显著的相互作用提供了可能与代谢综合征相关的VEGFA-DDS相关性的可能证据。需要进一步的研究来阐明这些相互作用的潜在机制。
{"title":"Interaction between Vascular Endothelial Growth Factor-A (rs2010963) Gene Polymorphisms and Dietary Diversity Score on Cardiovascular Risk Factors in Patients with Metabolic Syndrome","authors":"M. Abbasalizad Farhangi, M. Vajdi, L. Nikniaz, Zeinab Nikniaz","doi":"10.1159/000503789","DOIUrl":"https://doi.org/10.1159/000503789","url":null,"abstract":"Background: The vascular endothelial growth factor-A (VEGFA) family of cytokines regulates proliferation, angiogenesis, and migration of endothelial cells, increases vascular permeability, and controls thrombogenicity. Recent studies have suggested that the VEGFA gene plays an important role in the pathogenesis of metabolic syndrome and its related disorders. Dietary diversity score (DDS) has also been shown to have potential favorable effects against features of metabolic syndrome. This study examined the interactions between +405 VEGFA C/G (rs2010963) polymorphism and DDS on the metabolic and biochemical profile of metabolic syndrome. Therefore, in the current study, we aimed to evaluate the interaction between DDS and VEGFA rs2010963 gene polymorphisms in modification of metabolic risk factors including serum lipids, blood pressure, serum adiponectin, and matrix metalloproteinase (MMP)-3 concentrations in patients with metabolic syndrome. Methods and Materials: In the current cross-sectional study, 254 patients with metabolic syndrome were recruited. Measurements of blood pressure, anthropometric parameters, and dietary intakes were performed and the DDS was calculated. Biochemical variables including serum adiponectin concentrations, lipid profile, serum glucose, and MMP-3 concentrations were measured by enzyme-linked immunosorbent assay method (ELISA) and enzymatic colorimetric methods. Determination of +405 C/G VEGFA gene polymorphisms was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: Patients in the lowest DDS quartile had higher insulin and homeostatic model assessment of insulin resistance (HOMA-IR), while patients in the highest DDS quartile had higher quantitative insulin check index (QUICKI; p < 0.05). Higher serum triglyceride and systolic blood pressure (SBP) values and lower serum adiponectin concentrations were also observed in lower DDS quartiles (p < 0.05). Patients with the CC genotype in the VEGFA rs2010963 polymorphism had significantly higher body mass index (BMI), fasting blood glucose, aspartate aminotransferase (AST), and alanine aminotransferase (ALT; p < 0.05) compared to patients with the other 2 genotypes. In lower quartiles of DDS, 30% of patients with metabolic syndrome had the GG genotype, while 30.4 and 30.8% of patients with metabolic syndrome in higher DDS quartiles had GC and CC genotypes, respectively (p = 0.04). Conclusion: Our study found lower insulin resistance, serum triglyceride, and SBP and higher adiponectin concentrations among patients with metabolic syndrome in highest quartiles of DDS. Moreover, patients with the CC genotype were more likely to have higher BMI, fasting blood glucose, AST, and ALT. This significant interaction gives a possible evidence of a VEGFA-DDS association that may be relevant to metabolic syndrome. Further studies are warranted to clarify the underlying mechanisms of these interactions.","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":"13 1","pages":"1 - 10"},"PeriodicalIF":2.6,"publicationDate":"2019-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000503789","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47995457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
Nutrition Assessment and Intervention in a Pediatric Patient with Angelman Syndrome: A Case Presentation Highlighting Clinical Challenges and Evidence-Based Solutions Angelman综合征儿童患者的营养评估和干预:一个突出临床挑战和循证解决方案的案例介绍
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2019-11-29 DOI: 10.1159/000504300
K. Fisher, J. Keng, J. Ziegler
Background: Angelman syndrome (AS) is a rare disorder of genetic imprinting which results in intellectual and developmental disability. It meets criteria of a disorder of neurologic impairment. A deletion in the long arm of chromosome 15 (del 15q11.2–q13) is responsible for about 70% of cases of AS (deletion genotype). Summary: There is a paucity of evidence to allow algorithmic nutrition assessment and intervention in pediatric patients with AS. Therefore, our objective is to use a case presentation to provide an example of nutrition assessment and intervention in a pediatric patient with the deletion genotype of AS and then highlight common challenges to providing evidenced-based nutrition care. For the highlighted challenges, we suggest evidence-based solutions to provide a resource for clinicians who may encounter similar challenges in clinical practice. Key Messages: There are genotype-phenotype correlations in AS that can help guide clinicians regarding nutritionally relevant clinical characteristics and corresponding interventions that are patient specific. The deletion genotype in AS is associated with multiple characteristics that are relevant to nutrition care and may also be different and/or more severe than characteristics seen in other AS genetic mechanisms. There is also overlap in certain nutritionally relevant clinical characteristics between AS and other conditions, including Prader-Willi syndrome, autism spectrum disorders, and disorders of neurological impairment like cerebral palsy. Clinicians can utilize nutrition resources related to these conditions to expand the scope of relevant resources available.
背景:Angelman综合征(AS)是一种罕见的遗传印记障碍,可导致智力和发育障碍。它符合神经功能损害的标准。15号染色体长臂(del 15q11.2–q13)的缺失约占AS(缺失基因型)病例的70%。摘要:缺乏证据允许对AS儿童患者进行算法营养评估和干预。因此,我们的目标是通过案例介绍,为AS缺失基因型的儿童患者提供营养评估和介入的例子,然后强调提供循证营养护理的常见挑战。对于突出的挑战,我们建议循证解决方案,为临床实践中可能遇到类似挑战的临床医生提供资源。关键信息:AS中存在基因型-表型相关性,可以帮助指导临床医生了解营养相关的临床特征和针对患者的相应干预措施。AS中的缺失基因型与营养护理相关的多种特征相关,也可能与其他AS遗传机制中的特征不同和/或更严重。AS和其他疾病在某些营养相关的临床特征上也有重叠,包括Prader-Willi综合征、自闭症谱系障碍和脑瘫等神经损伤障碍。临床医生可以利用与这些疾病相关的营养资源来扩大相关资源的可用范围。
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引用次数: 3
Prevention of Potential Adverse Metabolic Effects of a Supplementation with Omega-3 Fatty Acids Using a Genetic Score Approach 用遗传评分法预防补充Omega-3脂肪酸的潜在不良代谢影响
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2019-11-28 DOI: 10.1159/000504022
Maximilien Franck, J. de Toro-Martín, F. Guénard, I. Rudkowska, S. Lemieux, B. Lamarche, P. Couture, M. Vohl
Introduction: The consumption of long-chain omega-3 polyunsaturated fatty acids (n-3 PUFA) has been reported to have beneficial health effects, notably, by reducing plasma triglyceride levels. Nonetheless, a concomitant decrease in insulin sensitivity has also been observed, but is highly variable among subjects. Herein, we aimed to determine the importance of the genetic background in the interindividual variability of the insulin sensitivity response following an n-3 PUFA supplementation. Methods: A total of 210 participants completed a 6-week n-3 PUFA supplementation with 5 g/day of fish oil (providing 1.9–2.2 g of eicosapentaenoic acid + 1.1 g of docosahexaenoic acid). Insulin resistance was estimated by the homeostatic model assessment (HOMA-IR), and participants were further classified as high-risk or low-risk depending on their HOMA-IR change following the n-3 PUFA supplementation, as compared to pre-supplementation values. Genome-wide genotyping data were obtained for 138 participants using HumanOmni-5-Quad BeadChips containing 4,301,331 single nucleotide polymorphisms. A genome-wide association analysis (GWAS) was carried out between high-risk and low-risk participants. The population study was split into training (60%) and testing (40%) datasets to assess the predictive accuracy of a genetic risk score (GRS) constructed by summing the number of risk alleles. Results: Following the n-3 PUFA supplementation, 32 participants had increased HOMA-IR as compared to initial values and were classified as high risk (23.2%), whereas remaining subjects were classified as low risk (n = 106, 76.8%). A total of 8 loci had frequency differences between high-risk and low-risk participants at a suggestive GWAS association threshold (p value <1 × 10–5). After applying 10-fold cross validation, the GRS showed a significant association with the risk of increased HOMA-IR in the testing dataset (OR = 3.16 [95% CI, 1.85–7.14]), with a predictive accuracy of 0.85, and explained 40% of variation in HOMA-IR change. Conclusions: These results suggest that the genetic background has a relevant role in the interindividual variability observed in the insulin sensitivity response following an n-3 PUFA supplementation. Subjects being at risk of insulin sensitivity lowering following an n-3 PUFA supplementation may be identified using genetic-based precision nutrition approaches.
导读:据报道,食用长链omega-3多不饱和脂肪酸(n-3 PUFA)对健康有有益的影响,特别是通过降低血浆甘油三酯水平。尽管如此,也观察到伴随的胰岛素敏感性降低,但在受试者之间差异很大。在此,我们的目的是确定遗传背景在补充n-3 PUFA后胰岛素敏感性反应的个体间变异性中的重要性。方法:共有210名参与者完成了为期6周的n-3 PUFA补充,每天服用5克鱼油(提供1.9-2.2克二十碳五烯酸+ 1.1克二十二碳六烯酸)。胰岛素抵抗通过体内平衡模型评估(HOMA-IR)来估计,参与者根据补充n-3 PUFA后的HOMA-IR变化,与补充前的值相比,进一步分为高风险或低风险。使用包含4,301,331个单核苷酸多态性的HumanOmni-5-Quad BeadChips获得138名参与者的全基因组基因分型数据。在高风险和低风险参与者之间进行全基因组关联分析(GWAS)。人口研究分为训练(60%)和测试(40%)数据集,以评估通过风险等位基因数量总和构建的遗传风险评分(GRS)的预测准确性。结果:与初始值相比,补充n-3 PUFA后,32名参与者的HOMA-IR增加,被归类为高风险(23.2%),而其余受试者被归类为低风险(n = 106, 76.8%)。在GWAS关联阈值上,高风险和低风险参与者之间共有8个位点存在频率差异(p值<1 × 10-5)。在应用10倍交叉验证后,在测试数据集中,GRS显示与HOMA-IR增加的风险显著相关(OR = 3.16 [95% CI, 1.85-7.14]),预测精度为0.85,并解释了40%的HOMA-IR变化。结论:这些结果表明,遗传背景在补充n-3 PUFA后观察到的胰岛素敏感性反应的个体间变异性中起着相关作用。在补充n-3 PUFA后,有胰岛素敏感性降低风险的受试者可以使用基于基因的精确营养方法进行识别。
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引用次数: 8
期刊
Lifestyle Genomics
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