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Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria. 基因携带者不受影响吗?苯丙酮尿症(PKU)遗传携带者的代谢和健康结果文献综述。
IF 2 4区 医学
Lifestyle Genomics Pub Date : 2024-01-01 Epub Date: 2024-07-30 DOI: 10.1159/000540549
Sophia M Khan, Robyn R Heister, Justine R Keathley
{"title":"Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria.","authors":"Sophia M Khan, Robyn R Heister, Justine R Keathley","doi":"10.1159/000540549","DOIUrl":"10.1159/000540549","url":null,"abstract":"<p><strong>Background: </strong>Phenylketonuria (PKU) is an autosomal recessive genetic condition that results in reduced enzymatic functioning within the phenylalanine hydroxylase (PAH) pathway, which is involved in the metabolism of phenylalanine (Phe) into tyrosine (Tyr). Without dietary intervention, individuals with PKU exhibit significantly elevated levels of Phe, which is presumed to cause severe neurological dysfunction and other associated health risks. Carriers of PKU are heterozygotes for a PAH gene mutation and are typically described in the literature as \"unaffected.\" However, decades of existing research challenges this classical thinking and it is plausible that these individuals currently classified as carriers may present with an intermediate phenotype or may be \"moderately affected.\"</p><p><strong>Summary: </strong>The purpose of this scoping review was to explore this hypothesis further, by searching for and summarizing existing literature on metabolism and health outcomes among PKU carriers. Preliminary research has suggested that some PKU carriers exhibit reduced PAH enzyme function, and relatedly, elevated circulating Phe levels compared to noncarriers. In addition, Phe dosing trials have further demonstrated that carriers have increased Phe levels and decreased Tyr levels compared to noncarriers. Because of these metabolic perturbations, it is biologically plausible for carriers to experience an intermediate phenotype in terms of metabolic consequences and clinical outcomes. While these outcomes have yet to be thoroughly explored, early research has found associations between PKU carrier status and lower IQs as well as decreased executive functioning, memory, processing speed, and inhibitory control. The PAH pathway is also involved in melanogenesis, and research has demonstrated increased melanoma risk among PKU carriers. However, there are many limitations to this research, and thus whether or not carriers are clinically impacted cannot yet be conclusively determined.</p><p><strong>Key message: </strong>Overall, while preliminary research suggests a possible intermediate phenotype among PKU carriers, the current available research is limited and PKU carriers are still clinically considered \"unaffected.\" This review outlines the current literature while discussing future research endeavors related to the metabolism and health of PKU carriers.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855861","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
Role of Presurgical Gut Microbial Diversity in Roux-en-Y Gastric Bypass Weight-Loss Response: A Cohort Study. 术前肠道微生物多样性在Roux-en-Y胃旁路减肥反应中的作用:一项队列研究。
IF 2 4区 医学
Lifestyle Genomics Pub Date : 2024-01-01 Epub Date: 2023-11-22 DOI: 10.1159/000535397
Sofía Morán-Ramos, Ruth Soriano-Cortés, Valeria Soto-Fuentes, Amyris Tenorio-Quiroz, Emmanuel Gervasio-Ortiz, Dulce Rico-Amador, Miguel Herrera, Mauricio Sierra-Salazar, Carlos A Aguilar-Salinas, Bárbara Antuna-Puente, Marcela Rodríguez-Flores
{"title":"Role of Presurgical Gut Microbial Diversity in Roux-en-Y Gastric Bypass Weight-Loss Response: A Cohort Study.","authors":"Sofía Morán-Ramos, Ruth Soriano-Cortés, Valeria Soto-Fuentes, Amyris Tenorio-Quiroz, Emmanuel Gervasio-Ortiz, Dulce Rico-Amador, Miguel Herrera, Mauricio Sierra-Salazar, Carlos A Aguilar-Salinas, Bárbara Antuna-Puente, Marcela Rodríguez-Flores","doi":"10.1159/000535397","DOIUrl":"10.1159/000535397","url":null,"abstract":"<p><strong>Introduction: </strong>Roux-en-Y gastric bypass (RYGB) substantially alters the gut microbial composition which could be associated with the metabolic improvements seen after surgery. Few studies have been conducted in Latin American populations, such as Mexico, where obesity prevalence is above 30% in the adult population. Thus, the aim of this study was to characterize the changes in the gut microbiota structure in a Mexican cohort before and after RYGB and to explore whether surgery-related changes in the microbial community were associated with weight loss.</p><p><strong>Methods: </strong>Biological samples from patients who underwent RYGB were examined before and 12 months after surgery. Fecal microbiota characterization was performed through 16S rRNA sequencing.</p><p><strong>Results: </strong>Twenty patients who underwent RYGB showed a median excess weight loss of 66.8% 12 months after surgery. Surgery increased alpha diversity estimates (Chao, Shannon index, and observed operational taxonomic units, p &lt; 0.05) and significantly altered gut microbiota composition. Abundance of four genera was significantly increased after surgery: Oscillospira, Veillonella, Streptococcus, and an unclassified genus from Enterobacteriaceae family (PFDR &lt; 0.1). The change in Veillonella abundance was associated with lower excess weight loss (rho = -0.446, p = 0.063) and its abundance post-surgery with a greater BMI (rho = 0.732, p = 5.4 × 10-4). In subjects without type 2 diabetes, lower bacterial richness and diversity before surgery were associated with a greater Veillonella increase after surgery (p &lt; 0.05), suggesting that a lower bacterial richness before surgery could favor the bloom of certain oral-derived bacteria that could negatively impact weight loss.</p><p><strong>Conclusion: </strong>Presurgical microbiota profile may favor certain bacterial changes associated with less successful results.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138295445","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
The interaction between the dietary phytochemical index and CD36 rs1761667 polymorphism on the risk factors related to metabolic syndrome 膳食植物化学物指数与 CD36 rs1761667 多态性对代谢综合征相关风险因素的交互作用
IF 2.6 4区 医学
Lifestyle Genomics Pub Date : 2023-11-28 DOI: 10.1159/000535337
Zeinab Yazdanpanah, H. Mozaffari‐khosravi, Mehdi Mollahosseini, Zahra Darabi, H. Ashrafzadeh, Masoud Mirzaei, M. Sheikhha, Amin Salehi-Abargouei
{"title":"The interaction between the dietary phytochemical index and CD36 rs1761667 polymorphism on the risk factors related to metabolic syndrome","authors":"Zeinab Yazdanpanah, H. Mozaffari‐khosravi, Mehdi Mollahosseini, Zahra Darabi, H. Ashrafzadeh, Masoud Mirzaei, M. Sheikhha, Amin Salehi-Abargouei","doi":"10.1159/000535337","DOIUrl":"https://doi.org/10.1159/000535337","url":null,"abstract":"Introduction: The aim of the study was to assess the interaction between CD36 rs1761667 and dietary phytochemical index (DPI) on the risk factors related to MetS among apparently healthy adults. Methods: This cross-sectional study was conducted on 387 apparently healthy adults (20–70 years) of the recruitment phase of Yazd Health Study (YaHS). DPI was calculated using data from a validated, and reliable food frequency questionnaire. Genotyping of rs1761667 was performed by polymerase chain reaction-restriction fragment length polymorphism method. All participants were categorized into two categories, based on DPI scores. The interactions were tested using logistic regression in adjusted and unadjusted models. Results: There was no significant association between CD36 gene polymorphism rs1761667 and metabolic syndrome components as well as DPI score was not associated with the components of MetS. Significant interactions were observed between DPI and rs1761667 polymorphism on the odds of metabolic syndrome (P = 0.05) and odds of abdominal obesity (P = 0.01), so that, higher adherence to this index was associated with a low risk of MetS and abdominal obesity in individuals with AG genotype. In contrast, increased adherence to the DPI was associated with higher odds of abdominal obesity among the AA genotype. Conclusion: The AG genotype appears to be a protective factor against the risk of MetS and abdominal obesity with greater adherence to DPI. However, additional research is needed to elucidate these interactions and the mechanisms behind these associations.","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139223793","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
Precision Nutrition for Cardiovascular Diseases Prevention 精准营养预防心血管疾病
IF 2.6 4区 医学
Lifestyle Genomics Pub Date : 2023-01-30 DOI: 10.1159/000529054
L. Desjardins, M. Vohl
{"title":"Precision Nutrition for Cardiovascular Diseases Prevention","authors":"L. Desjardins, M. Vohl","doi":"10.1159/000529054","DOIUrl":"https://doi.org/10.1159/000529054","url":null,"abstract":"Background: Cardiovascular diseases (CVD) are the leading cause of death globally, making their prevention a major challenge for modern society. For decades, treatments aimed at reducing CVD risk factors through nutritional recommendations and medications have had variable success. One of the main reasons behind this is the interindividual variability in response to drugs and nutritional interventions. The development of genomics has allowed the discovery of genetic variants influencing drug and food response, leading to more personalized treatments in the form of precision medicine and precision nutrition. The latter is based on the principle that one diet does not fit all and the need to stratify individuals into subgroups based on their response to nutrients. Despite showing great promise in pushing forward the field of nutrition, health professionals have very little knowledge of precision nutrition, even though the general population is showing interest in more personalized nutritional guidance.\u0000\u0000Summary: This review aims to provide an overview of key sources of interindividual variability observed in CVD risk factors in response to nutritional interventions. Despite some limitations, genetic testing is a mature predictive tool that should be at the forefront of tailored nutrition recommendations for CVD prevention. Although the epigenome-diet relationship shows great promise, it is still too early in its development to allow for its clinical deployment. Metabolomics has the potential to enhance genetic testing by complementing traditional self-reported dietary intake instruments as well as a very promising metabotyping method. Microbiome phenotyping, despite its complexity, provides a wealth of information on the health status of the host and its response to nutrients. Finally, current applications are discussed and an outline of the required steps for a successful implementation of precision nutrition in clinical practice as a tool for CVD prevention is presented.\u0000\u0000Key Messages: Precision nutrition is the cornerstone of a promising approach offering targeted nutritional recommendations for CVD prevention.\u0000","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48747312","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: 1
Effects of Acute Caffeine Intake on Insulin-Like Growth Factor-1 Responses to Total Sleep Deprivation: Interactions with COMT Polymorphism - A Randomized, Crossover Study. 急性咖啡因摄入对胰岛素样生长因子-1对完全睡眠剥夺反应的影响:与COMT多态性的相互作用——一项随机交叉研究。
IF 2.6 4区 医学
Lifestyle Genomics Pub Date : 2023-01-01 Epub Date: 2023-06-06 DOI: 10.1159/000529897
Catherine Drogou, Fabien Sauvet, Mégane Erblang, Damien Leger, Claire Thomas, Mounir Chennaoui, Danielle Gomez-Merino
{"title":"Effects of Acute Caffeine Intake on Insulin-Like Growth Factor-1 Responses to Total Sleep Deprivation: Interactions with COMT Polymorphism - A Randomized, Crossover Study.","authors":"Catherine Drogou, Fabien Sauvet, Mégane Erblang, Damien Leger, Claire Thomas, Mounir Chennaoui, Danielle Gomez-Merino","doi":"10.1159/000529897","DOIUrl":"10.1159/000529897","url":null,"abstract":"<p><strong>Introduction: </strong>Genes encoding catechol-O-methyl-transferase (COMT) and adenosine A2A receptor (ADORA2A) have been shown to influence cognitive performances and responses to caffeine intake during prolonged wakefulness. The rs4680 single-nucleotide polymorphism (SNP) of COMT differentiates on memory score and circulating levels of the neurotrophic factor IGF-1. This study aimed to determine the kinetics of IGF-1, testosterone, and cortisol concentrations during prolonged wakefulness under caffeine or placebo intake in 37 healthy participants, and to analyze whether the responses are dependent on COMT rs4680 or ADORA2A rs5751876 SNPs.</p><p><strong>Methods: </strong>In caffeine (2.5 mg/kg, twice over 24 h) or placebo-controlled condition, blood sampling was performed at 1 h (08:00, baseline), 11 h, 13 h, 25 h (08:00 next day), 35 h, and 37 h of prolonged wakefulness, and at 08:00 after one night of recovery sleep, to assess hormonal concentrations. Genotyping was performed on blood cells.</p><p><strong>Results: </strong>Results indicated a significant increase in IGF-1 levels after 25, 35, and 37 h of prolonged wakefulness in the placebo condition, in subjects carrying the homozygous COMT A/A genotype only (expressed in absolute values [±SEM]: 118 ± 8, 121 ± 10, and 121 ± 10 vs. 105 ± 7 ng/mL for A/A, 127 ± 11, 128 ± 12, and 129 ± 13 vs. 120 ± 11 ng/mL for G/G, and 106 ± 9, 110 ± 10, and 106 ± 10 vs. 101 ± 8 ng/mL for G/A, after 25, 35, and 37 h of wakefulness versus 1 h; p &lt; 0.05, condition X time X SNP). Acute caffeine intake exerted a COMT genotype-dependent reducing effect on IGF-1 kinetic response (104 ± 26, 107 ± 27, and 106 ± 26 vs. 100 ± 25 ng/mL for A/A genotype, at 25, 35, and 37 h of wakefulness vs. 1 h; p &lt; 0.05 condition X time X SNP), plus on resting levels after overnight recovery (102 ± 5 vs. 113 ± 6 ng/mL) (p &lt; 0.05, condition X SNP). Testosterone and cortisol concentrations decreased during wakefulness, and caffeine alleviated the testosterone reduction, unrelated to the COMT polymorphism. No significant main effect of the ADORA2A SNP was shown regardless of hormonal responses.</p><p><strong>Conclusion: </strong>Our results indicated that the COMT polymorphism interaction is important in determining the IGF-1 neurotrophic response to sleep deprivation with caffeine intake (NCT03859882).</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9583142","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
Rate-Limiting Enzymes in Cardiometabolic Health and Aging in Humans. 人类心脏代谢健康和衰老中的限速酶。
IF 2.6 4区 医学
Lifestyle Genomics Pub Date : 2023-01-01 Epub Date: 2023-07-20 DOI: 10.1159/000531350
Laurence D Parnell, Kira S McCaffrey, Athena W Brooks, Caren E Smith, Chao-Qiang Lai, Jacob J Christensen, Christopher D Wiley, Jose M Ordovas
{"title":"Rate-Limiting Enzymes in Cardiometabolic Health and Aging in Humans.","authors":"Laurence D Parnell, Kira S McCaffrey, Athena W Brooks, Caren E Smith, Chao-Qiang Lai, Jacob J Christensen, Christopher D Wiley, Jose M Ordovas","doi":"10.1159/000531350","DOIUrl":"10.1159/000531350","url":null,"abstract":"<p><strong>Introduction: </strong>Rate-limiting enzymes (RLEs) are innate slow points in metabolic pathways, and many function in bio-processes related to nutrient sensing. Many RLEs carry causal mutations relevant to inherited metabolic disorders. Because the activity of RLEs in cardiovascular health is poorly characterized, our objective was to assess their involvement in cardiometabolic health and disease and where altered biophysical and biochemical functions can promote disease.</p><p><strong>Methods: </strong>A dataset of 380 human RLEs was compared to protein and gene datasets for factors likely to contribute to cardiometabolic disease, including proteins showing significant age-related altered expression in blood and genetic loci with variants that associate with common cardiometabolic phenotypes. The biochemical reactions catalyzed by RLEs were evaluated for metabolites enriched in RLE subsets associating with various cardiometabolic phenotypes. Most significance tests were based on Z-score enrichment converted to p values with a normal distribution function.</p><p><strong>Results: </strong>Of 380 RLEs analyzed, 112 function in mitochondria, and 53 are assigned to inherited metabolic disorders. There was a depletion of RLE proteins known as aging biomarkers. At the gene level, RLEs were assessed for common genetic variants that associated with important cardiometabolic traits of LDL-cholesterol or any of the five outcomes pertinent to metabolic syndrome. This revealed several RLEs with links to cardiometabolic traits, from a minimum of 26 for HDL-cholesterol to a maximum of 45 for plasma glucose. Analysis of these GWAS-linked RLEs for enrichment of the molecular constituents of the catalyzed reactions disclosed a number of significant phenotype-metabolite links. These included blood pressure with acetate (p = 2.2 × 10-4) and NADP+ (p = 0.0091), plasma HDL-cholesterol and triglyceride with diacylglycerol (p = 2.6 × 10-5, 6.4 × 10-5, respectively) and diolein (p = 2.2 × 10-6, 5.9 × 10-6), and waist circumference with <sc>d</sc>-glucosamine-6-phosphate (p = 1.8 × 10-4).</p><p><strong>Conclusion: </strong>In the context of cardiometabolic health, aging, and disease, these results highlight key diet-derived metabolites that are central to specific rate-limited processes that are linked to cardiometabolic health. These metabolites include acetate and diacylglycerol, pertinent to blood pressure and triglycerides, respectively, as well as diacylglycerol and HDL-cholesterol.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10222156","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
Genome Tectonics: Linking Dynamic Genome Organization with Cellular Nutrients. 基因组构造:将动态基因组组织与细胞营养物质联系起来。
IF 2.6 4区 医学
Lifestyle Genomics Pub Date : 2023-01-01 Epub Date: 2022-11-14 DOI: 10.1159/000528011
Morgan Fleming, Fina Nelson, Iain Wallace, Christopher H Eskiw
{"title":"Genome Tectonics: Linking Dynamic Genome Organization with Cellular Nutrients.","authors":"Morgan Fleming, Fina Nelson, Iain Wallace, Christopher H Eskiw","doi":"10.1159/000528011","DOIUrl":"10.1159/000528011","url":null,"abstract":"<p><strong>Background: </strong>Our daily intake of food provides nutrients for the maintenance of health, growth, and development. The field of nutrigenomics aims to link dietary intake/nutrients to changes in epigenetic status and gene expression.</p><p><strong>Summary: </strong>Although the relationship between our diet and our genes in under intense investigation, there is still a significant aspect of our genome that has received little attention with regard to this. In the past 15 years, the importance of genome organization has become increasingly evident, with research identifying small-scale local changes to large segments of the genome dynamically repositioning within the nucleus in response to/or mediating change in gene expression. The discovery of these dynamic processes and organization maybe as significant as dynamic plate tectonics is to geology, there is little information tying genome organization to specific nutrients or dietary intake.</p><p><strong>Key messages: </strong>Here, we detail key principles of genome organization and structure, with emphasis on genome folding and organization, and link how these contribute to our future understand of nutrigenomics.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40516555","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
FTO genotypes (rs9939609 T>A) are Associated with Increased Added Sugar Intake in Healthy Young Adults. FTO基因型(rs9939609T>A)与健康年轻人添加糖摄入量增加有关。
IF 2.6 4区 医学
Lifestyle Genomics Pub Date : 2023-01-01 Epub Date: 2023-10-25 DOI: 10.1159/000534741
Andrea Madrigal-Juarez, Erika Martínez-López, Tania Sanchez-Murguia, Lisset Magaña-de la Vega, Roberto Rodriguez-Echevarria, Maricruz Sepulveda-Villegas, Rafael Torres-Valadez, Nathaly Torres-Castillo
{"title":"FTO genotypes (rs9939609 T&gt;A) are Associated with Increased Added Sugar Intake in Healthy Young Adults.","authors":"Andrea Madrigal-Juarez, Erika Martínez-López, Tania Sanchez-Murguia, Lisset Magaña-de la Vega, Roberto Rodriguez-Echevarria, Maricruz Sepulveda-Villegas, Rafael Torres-Valadez, Nathaly Torres-Castillo","doi":"10.1159/000534741","DOIUrl":"10.1159/000534741","url":null,"abstract":"<p><strong>Introduction: </strong>Single-nucleotide polymorphism (SNP) rs9939609 in the FTO gene has been associated with dietary intake and appetite traits, mainly in participants with obesity; however, it remains widely unexplored in normal weight participants. Thus, the aims of this study were (1) to compare the changes in subjective appetite sensations, ghrelin, and insulin concentrations according to the SNP rs9939609 T&gt;A in FTO and (2) to compare dietary intake between rs9939609 genotype groups in normal weight young participants.</p><p><strong>Methods: </strong>We conducted a quasi-experimental study involving 88 normal weight participants to analyze subjective perception of appetite, hormonal response for hunger and satiety, and dietary intake according to the rs9939609 SNP. Participants received a standardized single breakfast. Visual analogue scales (VAS) were utilized for assessing the subjective perception of appetite at fasting and immediately after breakfast and at 30, 60, 90, and 120 min postprandially. Glucose, lipid profile, ghrelin, and insulin were measured at fasting and at 120 min after breakfast. Dietary intake was assessed with a 3-day food record. The SNP was determined by allelic discrimination with TaqMan probes. To compare dietetic, biochemical, and the subjective appetite sensations, Student t test, ANCOVA test, and the repeated measures ANOVA were used. The linear regression model and the linear mixed model were used for the association analysis. Pearson correlation was used to test the correlation between two quantitative variables.</p><p><strong>Results: </strong>A total of 88 people participated, 81.8% were female, with a mean body mass index of 21.8 ± 2.0 kg/m2 and a mean age of 20.6 ± 2.0. Genotype frequencies of the rs9939609 SNP were 52% for the TT allele and 48% for the TA/AA. The subjective perception of appetite named hunger, fullness, satiety, desire to eat, and prospective food consumption were similar between genotypes of the rs9939609. Participants with the TA/AA genotype showed a higher intake of added sugar (p = 0.039) than TT participants. No differences were found in ghrelin, insulin, glucose, or lipid parameters between genotypes.</p><p><strong>Conclusion: </strong>Carriers of the A allele from FTO gene SNP rs9939609 may have an increased preference for foods, specifically for added sugars.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50161966","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
Nutrigenomics: Perceptions of South African Dietitians and General Practitioners. 营养基因组学:南非营养师和全科医生的看法。
IF 2.6 4区 医学
Lifestyle Genomics Pub Date : 2023-01-01 Epub Date: 2022-11-01 DOI: 10.1159/000526898
Desiré Greyvensteyn, Corinna May Walsh, Mariette Nel, Elizabeth Margaretha Jordaan
{"title":"Nutrigenomics: Perceptions of South African Dietitians and General Practitioners.","authors":"Desiré Greyvensteyn, Corinna May Walsh, Mariette Nel, Elizabeth Margaretha Jordaan","doi":"10.1159/000526898","DOIUrl":"10.1159/000526898","url":null,"abstract":"<p><strong>Introduction: </strong>Although investigations into the emerging field of nutrigenomics are relatively limited and more research in this field is required, experts agree that there is potential for it to be incorporated into health care practice. If health care professionals can promote healthy dietary behavior based on nutrigenomic testing, it can assist in addressing the health consequences of poor diet and lightning the strain on the South African health care system.</p><p><strong>Methods: </strong>Registered dietitians (RDs) and general practitioners (GPs) registered with the Health Professions Council of South Africa (HPCSA) who obtained their qualification in South Africa (SA) were eligible to participate in this cross-sectional study. Participants were identified using convenience and snowball sampling. A self-administered electronic survey using EvaSys Software® was completed by those that agreed to participate.</p><p><strong>Results: </strong>Nearly all RDs (97.3%), but less than a third of GPs (30.4%), had heard of the term nutrigenomics. Approximately three-quarters of RDs (74.7%) and GPs (73.9%) had or would personally consider undergoing genetic testing. More than 40% (43.5%) of RDs ranked direct-to-consumer genetic testing companies as the most equipped, while 31.8% of GPs ranked RDs as the most equipped to provide patients with nutrigenomic services. Both RDs and GPs ranked similar reasons as \"strongly agree\" for why consumers were motivated to make use of nutrigenomic services, which included \"motivated by a desire to prevent or manage disease\" (56.7%), \"prevent a disease based on family history\" (65.9%), \"control health outcomes based on family history\" (54.9%), and \"improve overall health-related quality of life\" (48.6%). Cost concerns were reported as the greatest barrier to implementing nutrigenomic services (75.7%). Other barriers included confidentiality issues (47.8%) and moral concerns (37.3%). Greater individualization of diet prescription (66.5%), stronger foundations for nutrition recommendations (62.4%), and dietary prescriptions that would manage or prevent certain diseases more effectively (59.0%) were all perceived as benefits of including nutrigenomics in practice.</p><p><strong>Conclusion: </strong>This study identified perceived consumer motivators and barriers that might affect the willingness to seek nutrigenomic services in SA. In addition, the need for more nutrigenomic training opportunities, including the planning of personalized diets based on genetic testing results and interpretation of results, was confirmed. However, both RDs and GPs felt that the emerging field of nutrigenomics needs further development before it can be applied effectively in routine private and public health care in SA.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40672684","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
Discrimination Exposure and Polygenic Risk for Obesity in Adulthood: Testing Gene-Environment Correlations and Interactions. 歧视暴露与成年后肥胖的多基因风险:测试基因与环境的相关性和相互作用。
IF 2.6 4区 医学
Lifestyle Genomics Pub Date : 2023-01-01 Epub Date: 2023-02-07 DOI: 10.1159/000529527
Adolfo G Cuevas, Frank D Mann, Robert F Krueger
{"title":"Discrimination Exposure and Polygenic Risk for Obesity in Adulthood: Testing Gene-Environment Correlations and Interactions.","authors":"Adolfo G Cuevas, Frank D Mann, Robert F Krueger","doi":"10.1159/000529527","DOIUrl":"10.1159/000529527","url":null,"abstract":"<p><strong>Introduction: </strong>Exposure to discrimination has emerged as a risk factor for obesity. It remains unclear, however, whether the genotype of the individual can modulate the sensitivity or response to discrimination exposure (gene × environment interaction) or increase the likelihood of experiencing discrimination (gene-environment correlation).</p><p><strong>Methods: </strong>This was an observational study of 4,102 white/European Americans in the Health and Retirement Study with self-reported, biological assessments, and genotyped data from 2006 to 2014. Discrimination was operationalized using the average of nine Everyday Discrimination Scale items. Polygenic risk scores (PRSs) for body mass index (BMI) and waist circumference (WC) were calculated using the weighted sum of risk alleles based on studies conducted by the Genetic Investigation of Anthropometric Traits (GIANT) consortium.</p><p><strong>Results: </strong>We found that greater PRS-BMI was significantly associated with more reports of discrimination (β = 0.04 ± 0.02; p = 0.037). Further analysis showed that measured BMI partially mediated the association between PRS-BMI and discrimination. There was no evidence that the association between discrimination and BMI, or the association between discrimination and WC, differed by PRS-BMI or PRS-WC, respectively.</p><p><strong>Conclusion: </strong>Our findings suggest that individuals with genetic liability for obesity may experience greater discrimination in their lifetime, consistent with a gene-environment correlation hypothesis. There was no evidence of a gene-environment interaction. More genome-wide association studies in diverse populations are needed to improve generalizability of study findings. In the meantime, prevention and clinical intervention efforts that seek to reduce exposure to all forms of discrimination may help reduce obesity at the population level.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11078300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10666364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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