scholarly journals RMR-Related MAP2K6 Gene Variation on the Risk of Overweight/Obesity in Children: A 3-Year Panel Study

2021 ◽  
Vol 11 (2) ◽  
pp. 91
Author(s):  
Myoungsook Lee ◽  
Yunkyoung Lee ◽  
Inhae Kang ◽  
Jieun Shin ◽  
Sungbin R. Sorn

From a pilot GWAS, seven MAP2K6 (MEK6) SNPs were significantly associated with resting metabolic rate (RMR) in obese children aged 8–9 years. The aim of this study was to investigate how RMR-linked MEK6 variation affected obesity in Korean children. With the follow-up students (77.9%) in the 3-year panel study, the changes of the variables associated with obesity (such as anthropometrics, blood biochemistry, and dietary intake) were collected. After the MEK6 SNPs were screened by Affymetrix Genome-Wide Human SNP array 6.0, the genotyping of the seven MEK6 SNPs was performed via SNaPshot assay. As the prevalence of obesity (≥85th percentile) increased from 19.4% to 25.5%, the rates of change of the variables RMR, body mass index (BMI), waist circumference (WC), systolic blood pressure (SBP), and dietary intake (energy and carbohydrate intakes) increased. The rate of overweight/obesity was higher in all mutant alleles of the seven MEK6 SNPs than it was in the matched children without mutant alleles. However, over the 3-year study period, RMRs were only significantly increased by the mutants of two single nucleotide polymorphisms (SNPs), rs996229 and rs756942, mainly related to male overweight/obesity as both WC and SBP levels increased. In the mutants of two of the SNPs, the odds ratio of overweight/obesity risk was six times higher in the highest tercile of fat intake and SBP than those of the lowest tercile. For personalized medicine to prevent pediatric obesity, SBP, WC, and dietary fat intake should be observed, particularly if boys have mutants of MEK6 SNPs, rs9916229, or rs756942.

2021 ◽  
Author(s):  
Atieh Mirzababaei ◽  
Elnaz Daneshzad ◽  
Farideh Shiraseb ◽  
Sanaz Pourreza ◽  
Leila Setayesh ◽  
...  

Abstract Background: Previous studies have shown that the minor allele (C allele) for Cry 1 rs2287161, may be associated with increased risk of cardiovascular diseases (CVDs). Low resting metabolic rate (RMR) caused by the diet has been shown to have, potentially, unfavorable effects on obesity. This study sought to investigate the interactions between the Cry 1 Gene and fat intake on RMR in overweight and obese women.Methods: This comparative cross-sectional study was conducted on 377 Iranian women with overweight and obesity. A food frequency questionnaire (FFQ), with 147 items, was used to assess dietary intake. Individuals were categorized into two groups based on the rs2287161 genotype. Body composition, dietary intake, and RMR were assessed for all participants.Results: There was a significant difference between genotypes for FBS (P=0.04), fat free mass (FFM) (P=0.0009), RMR per FFM (P =0.05), RMR per body mass index (BMI) (P=0.02), and RMR deviation (P=0.01). Our findings also showed significant interactions between total fat and C allele carrier group on RMR per kg, RMR per body surface area (BSA), RMR per FFM, and RMR deviation (P for interaction <0.1), in addition to a significant interaction between CC+CG group genotype and PUFA intake on RMR per BMI (P for interaction =0.009) and RMR per kg (P for interaction=0.02) and RMR per BSA (P=0.07), compared to the GG group, after control for confounder factors.Conclusion: These results highlight that dietary compositions, gene variants, and their interaction, should be acutely considered in lower RMR.


Genes ◽  
2019 ◽  
Vol 10 (5) ◽  
pp. 384 ◽  
Author(s):  
Syed Ali Azmal ◽  
Ali Akbar Bhuiyan ◽  
Abdullah Ibne Omar ◽  
Shuai Ma ◽  
Chenghao Sun ◽  
...  

The improvement of egg production is of vital importance in the chicken industry to maintain optimum output throughout the laying period. Because of the elongation of the egg-laying cycle, a drop in egg-laying rates in the late laying period has provoked great concern in the poultry industry. In this study, we calculated the egg-laying rate at weeks 61–69 (60 days) of Jing Hong chickens parent generation as the phenotype, and the genotype were detected by the chicken 600K Affymetrix Axiom High Density (HD) Single Nucleotide Polymorphisms (SNP)-array. The Genome-Wide Association Study (GWAS) result showed that the egg production trait is significantly associated with five SNPs (AX-75745366, AX-75745380, AX-75745340, AX-75745388, and AX-75745341), which are in the rap guanine nucleotide exchange factor 6 (RAPGEF6) gene on chicken chromosome 13. A total of 1676 Chinese commercial Jing Hong laying hens—including two populations, P1 population (858 hens) and P2 population (818 hens)—were genotyped using the Polymerase Chain Reaction-Restriction Fragments Length Polymorphisms (PCR-RFLP) method for the association analysis of egg-laying rates for the verification of the GWAS results. Genotypic and allelic frequencies of five SNPs were inconsistent with Hardy–Weinberg equilibrium, and the average population genetics parameters considering all the SNP values; i.e., gene homozygosity (Ho), gene heterozygosity (He), the effective number of alleles (Ne), and the polymorphism information content (PIC) were 0.75, 0.25, 1.40, and 0.20 in P1; 0.71, 0.29, 1.46, and 0.24 in P2; and 0.73, 0.27, 1.43, and 0.22 in P1 + P2 populations, respectively. The association analysis results revealed that out of the five polymorphisms, three of them (AX-75745366, AX-75745340, and AX-75745341; Patent applying No: 201810428916.5) had highly significant effects on egg-laying rates according to the GWAS results. Population-specific association analyses also showed similar significant association effects with this trait. Four haplotypes (AAGG, AAAG, AGGG, and AGAG) were inferred based on significant loci (AX-75745340 and AX-75745341) and also showed significant associations with the egg-laying rate, where haplotype AAGG had the highest egg-laying rate, with the exception of the egg-laying rate in P1 population, followed by other haplotypes. Furthermore, genotypes TT, AA, and GG showed the highest egg-laying rate compared to the corresponding genotypes at AX-75745366, AX-75745340, and AX-75745341 SNP loci in P1+P2, respectively. A similar result was found in the population-specific analysis except for the P1 population, in which TC genotype showed the highest egg-laying rate. No significant association was found in the egg-laying rate during the 60 days laying period for the SNPs (AX-75745380 and AX-75745388) in any group of population (p ≥ 0.05). Collectively, we report for the first time that 3 SNPs in the RAPGEF6 gene were significantly associated with the egg-laying rate during the later stage of egg production, which could be used as the potential candidate molecular genetic markers that would be able to facilitate in the selection and improvement of egg production traits through chicken breeding.


Circulation ◽  
2015 ◽  
Vol 131 (suppl_1) ◽  
Author(s):  
Changwei Li ◽  
Jiang He ◽  
James Hixson ◽  
Dongfeng Gu ◽  
Dabeeru Rao ◽  
...  

Background: Elevated blood pressure (BP) is a major public health challenge. Although the heritability of BP has been long established, current findings can explain only a small proportion of the BP variability attributed to genetic factors. Recent studies indicate that gene-environmental interactions may help to identify novel BP loci. Hence, the current study aimed to identify genetic variants influencing BP regulation by conducting genome-wide gene-sodium interaction analyses among 1,906 participants of the Genetic Epidemiology Network of Salt-Sensitivity (GenSalt) study. Methods: GenSalt recruited 1,906 Chinese participants from 633 families. At baseline, one 24-hour and two 8-hour urine specimens were collected to measure urinary sodium excretion. Nine BP measurements were taken using a random zero sphygmomanometer. A total of 868,158 autosomal single nucleotide polymorphisms (SNPs) were genotyped using Affymetrix Genomewide Human SNP array 6.0 (Affymetrix, Inc, Santa Clara, CA). Mixed effects models were used to test genome-wide SNP-sodium interactions on BP, adjusting for age, gender, and body mass index. Promising findings (interaction term P <1.00х10 -6 ) from GenSalt were further evaluated for replication among Chinese participants of the Multi-Ethnic Study of Atherosclerosis (MESA) with available data from the database of genotypes and phenotypes (dbGaP). SNP effects in GenSalt and MESA were meta-analyzed using inverse-variance weighted fixed effect models. Results: The meta-analyses identified 3 novel loci that significantly interacted with sodium to influence BP phenotypes. SNP-sodium interactions on systolic BP were identified for NEK2 variant rs10494938 at 1q32.3 (GenSalt P =2.19х10 -6 , MESA P =4.35х10 -4 , and Meta-analysis P = 3.93х10 -8 ). In addition, CASP4 variant rs1944900 at 11q22.3 interacted with sodium to influence both systolic BP (GenSalt P =1.24х10 -9 , MESA P =4.22х10 -2 , and Meta-analysis P = 1.14х10 -10 ) and mean arterial pressure (GenSalt P =1.68х10 -9 , MESA P =4.27х10 -2 , and Meta-analysis P = 1.91х10 -10 ). Furthermore, C9orf3 variant rs17679141 at 9q22.32 interacted with sodium to influence diastolic BP (GenSalt P =2.85х10 -8 , MESA P =4.55х10 -2 , and Meta-analysis P =4.61х10 -9 ). The 3 variants all physically mapped to the intronic regions of their corresponding genes. Conclusion: The current study identified 3 novel loci which may interact with dietary sodium intake to influence BP phenotypes.


Blood ◽  
2012 ◽  
Vol 119 (22) ◽  
pp. 5066-5068 ◽  
Author(s):  
Anne M. Dickinson

The article by Chien at al in this issue of Blood uses a novel approach to assess the role of single nucleotide polymorphisms (SNPs) in acute graft-versus-host disease (GVHD). Using a genome-wide association study (GWAS) employing an Affymetrix GeneChip Genome-Wide Human 500 000 SNP array, they screened 1298 allogeneic hematopoietic stem cell transplant donors and recipients and tested whether the results from 40 previously reported candidate SNPs could be replicated. They also used a novel approach to impute data using IMPUTE software (http://nathgen.stats-ox.ac.uk/impute/impute.html) where the genotyping data were not available.1


2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
I Hoxhaj ◽  
S Ahmad ◽  
J Liu ◽  
R Pastorino ◽  
S Boccia ◽  
...  

Abstract Introduction Various single nucleotide polymorphisms (SNPs) have been associated with Head and Neck Cancer (HNC) susceptibility and prognosis. The pathogenesis of HNC is related to alterations in metabolite concentrations. Dietary intake may also influence the metabolic profile. We aimed to evaluate the association between serologic metabolites on the one hand and on the other hand HNC related SNPs and dietary intake. Methods This study included participants from the Erasmus Rucphen Family Study (ERF). We identified the SNPs associated with HNC from the GWAS Catalog, reaching genome-wide significance at P &lt; 5 × 10−8. We performed regression analyses to evaluate the association of SNPs dosage with the metabolites and the association between metabolites and dietary intake. Results The study included 2758 participants, in whom 820 metabolites were analyzed. Four SNPs showed a significant association with circulating metabolites: rs174549 with phosphatidylcholine diacyl (β = 0.45; p-value= 7.17 × 10− 40), rs310518 with lipoprotein IDL sub-fraction, rs1229984 with triglycerides and rs1494961 with propionylcarnitine. The minor variant allele of the 4 SNPs showed increased level of the metabolites in blood. As to the association diet and metabolite concentration, significant associations were found for dairy products with sphingomyelin, fish intake with phosphatidylcholines, cholesterol esters with vegetables and myoinositol with fruits intake. When the results of both analyses were merged, 5 metabolites were found to be associated with dietary variables and rs174549. In the minor allele carriers, phosphatidylcholines increased with consumption of fish and phosphatidylethanolamine increased with consumption of diary products. Conclusions The genetic variants rs174549, which is a determinant of genetic HNC susceptibility, is associated with phosphatidylcholines and phosphatidylethanolamine in the circulation. Key messages In the minor allele carriers of rs174549, phosphatidylcholine diacyl level in circulation increased with consumption of fish. In the minor allele carriers of rs174549, phosphatidylethanolamine level in circulation increased with consumption of diary products.


Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1313
Author(s):  
Ignazio S. Piras ◽  
Nieves Perdigones ◽  
Victoria Zismann ◽  
Natalia Briones ◽  
Salvatore Facista ◽  
...  

Canine gastric dilatation-volvulus (GDV) is a common life-threatening condition occurring primarily in large and giant breeds with a 3.9% to 36.7% lifetime risk. The genetic correlates of GDV have not previously been systematically explored. We undertook an inter-breed genome-wide association analysis (GWAS) of 253 dogs from ten breeds including 106 healthy dogs and 147 dogs with at least one GDV episode. SNP array genotyping followed by imputation was conducted on 241 samples to identify GDV-associated single-nucleotide polymorphisms (SNPs) and copy number variations (CNVs). A subset of 33 dogs (15 healthy dogs and 18 GDV patients from the three most represented breeds) was characterized by whole genome sequencing (WGS). After genome-wide Bonferroni correction, we identified a significant putatively protective intergenic SNP (rs851737064) across all breeds. The signal was most significant in Collies, German Shorthaired Pointers, and Great Danes. Subsequent focused analysis across these three breeds identified 12 significant additional putatively protective or deleterious SNPs. Notable significant SNPs included those occurring in genes involved in gastric tone and motility including VHL, NALCN, and PRKCZ. These data provide important new clues to canine GDV risk factors and facilitate generation of hypotheses regarding the genetic and molecular underpinnings this syndrome.


Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 1670-1670
Author(s):  
Ilaria Iacobucci ◽  
Marco Sazzini ◽  
Anna Ferrari ◽  
Annalisa Lonetti ◽  
Alessio Boattini ◽  
...  

Abstract Abstract 1670 Among genes that are supposed to be involved in altered molecular pathways leading to leukemogenesis, the CDKN2A/B locus is particularly noteworthy since it encodes for the INK4-class cyclin dependent kinase inhibitors p15 INK4B, p16 INK4A and p14 ARF, which act as tumor suppressors. The CDKN2A/B locus has been found to be inactivated in several haeamatologic malignancies mainly due to deletion, aberrant repression or epigenetic silencing, whereas little is known about the potential role of its single nucleotide polymorphisms (SNPs) in leukemia susceptibility. To investigate whether polymorphisms within this broad genomic region can correlate with increased susceptibility to haeamatologic malignancies, an association study was performed by genotyping 23 SNPs spanning the MTAP, CDKN2A/B and CDKN2BAS loci, as well as relative intergenic regions, in a case-control cohort made up of 332 samples: 149 leukemia patients, including Philadelphia positive (Ph+) ALL (n=92) and acute myeloid leukemia (AML) samples (n=57), and 183 unrelated healthy controls. Ph+ ALL patients showed a median age of 52 years (18-78 years); 24 cases (26%) expressed the p210 oncoprotein, 62 (67%) the p190 and 6 (7%) both the proteins. AML patients showed a median age of 53 years (21-71 years) and they included FAB-M0, M1, M2, M3, M4, M5, miscellaneous cytogenetic abnormalities and normal karyotype subtypes. 6 SNPs were selected on the basis of their previous association with several diseases, such as coronary artery disease (rs2891168, rs518394, rs564398, rs10757278), type 2 diabetes mellitus (rs564398), frailty (rs2811712). The remaining 17 SNPs were selected among those included in the Affymetrix Genome-Wide Human SNP Array 6.0 to deepen the SNPs coverage for the examined region. Genotyping was performed using iPLEX Gold technology and MassARRAY high-throughput DNA analysis with Matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry (Sequenom, Inc., San Diego, CA). Furthermore, all leukemia samples were also previously genotyped using the GeneChip® Human Mapping 250K NspI and Genome-Wide Human SNP 6.0 (Affymetrix). A total of 17 SNPs, spanning the 9p genomic interval that encompasses the MTAP, CDKN2A/B and CDKN2BAS loci, were successfully genotyped and used for investigating their potential associations with the leukemia phenotypes. Five SNPs (rs1012713, rs10965179, rs34011899, rs3731232, rs3218010) with Minor Allele Frequency (MAF) <0.05 in cases and controls, as well as one SNP (rs3931609) showing >20% missing call rates, were instead excluded from the association analysis. Potential population stratification affecting the control sample was ruled out as its genotypes distribution satisfies the Hardy-Weinberg equilibrium criterion. Among the 17 SNPs, rs564398, mapping to the CDKN2BAS locus that encodes for ANRIL antisense non-coding RNA, showed a statistically significant correlation with the ALL phenotype, with a risk pattern that was compatible with an overdominant model of disease susceptibility and an Odd Ratio (OR) of 2 (95% CI, 1.20 to 3.33; p= 7.1 × 10-3). Since a co-ordinated regulation of ANRIL and p14/ARF, p16/CDKN2A, p15/CDKN2B transcription has been already observed in both physiologic and pathologic conditions, we hypothesized that rs564398 association reflects a condition of high linkage disequilibrium between such polymorphism and a causative variant that is able to alter CDKN2A/B expression profiles by changing ANRIL dosage, thus leading to abnormal proliferative boosts and consequent increased ALL susceptibility. Supported by European LeukemiaNet, AIL, AIRC, FIRB 2006, PRIN 2008, Ateneo RFO grants, Project of integrated program (PIO), Programma di Ricerca Regione – Università 2007 – 2009. Disclosures: Baccarani: Novartis: Consultancy, Honoraria; BMS: Consultancy, Honoraria. Martinelli:Novartis: Consultancy, Honoraria; BMS: Honoraria; Pfizer: Consultancy.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Atieh Mirzababaei ◽  
Elnaz Daneshzad ◽  
Farideh Shiraseb ◽  
Sanaz Pourreza ◽  
Leila Setayesh ◽  
...  

Abstract Background Previous studies have shown that the minor allele (C allele) for Cry 1 rs2287161, may be associated with increased risk of cardiovascular diseases (CVDs). Low resting metabolic rate (RMR) caused by the diet has been shown to have, potentially, unfavorable effects on obesity. This study sought to investigate the interactions between the Cry 1 Gene and fat intake on RMR in women with overweight of obesity. Methods This comparative cross-sectional study was conducted on 377 Iranian women with overweight of obesity. A food frequency questionnaire (FFQ), with 147 items, was used to assess dietary intake. Individuals were categorized into two groups based on the rs2287161 genotype. Body composition, dietary intake, and RMR were assessed for all participants. Results There was a significant difference between genotypes for fasting blood sugar (FBS) (P = 0.04), fat free mass (FFM) (P = 0.0009), RMR per FFM (P = 0.05), RMR per body mass index (BMI) (P = 0.02), and RMR deviation (P = 0.01). Our findings also showed significant interactions between total fat and C allele carrier group on RMR per kg body weight, RMR per body surface area (BSA), RMR per FFM, and RMR deviation (P for interaction < 0.1), in addition to a significant interaction between CC + CG group genotype and polyunsaturated fatty acids (PUFA) intake on RMR per BMI (P for interaction =0.00) and RMR per kg (P for interaction = 0.02) and RMR per BSA (P = 0.07), compared to the GG group, after control for confounder factors. Conclusion These results highlight that dietary compositions, gene variants, and their interaction, should be acutely considered in lower RMR.


2002 ◽  
Vol 5 (1a) ◽  
pp. 113-122 ◽  
Author(s):  
Juan A Rivera ◽  
Simón Barquera ◽  
Fabricio Campirano ◽  
Ismael Campos ◽  
Margarita Safdie ◽  
...  

AbstractObjective:The objective of this paper is to characterise the epidemiological and nutritional transition and their determinants in Mexico.Design:Age-adjusted standardised mortality rates (SMRs) due to acute myocardial infarction (AMI), diabetes mellitus and hypertension were calculated for 1980–1998. Changes in the prevalences of overweight and obesity in women and children and of dietary intake from 1988 to 1999 were also used in the analysis. Quantities of food groups purchased by adult equivalent (AE) and food expenditures away from home between 1984 and 1989 were used to assess trends. All information was analysed at the national and regional levels, and by urban and rural areas.Results:SMR for diabetes, AMI and hypertension increased dramatically parallel to obesity at the national and regional levels. Fat intake in women and the purchase of refined carbohydrates, including soda, also increased.Discussion:The results suggest that obesity is playing a role in the increased SMRs of diabetes, AMI and hypertension in Mexico. Total energy dietary intake and food purchase data could not explain the rise in the prevalence of obesity. The increases in fat intake and the purchase of refined carbohydrates may be risk factors for increased mortality. Information on physical activity was not available.Conclusion:SMRs due to diabetes, hypertension and AMI have increased dramatically in parallel with the prevalence of obesity; therefore actions should be taken for the prevention of obesity. Reliable information about food consumption and physical activity is required to assess their specific roles in the aetiology of obesity.


2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Persephone Vargas

The prevalence of obesity is a public concern and is linked to chronic diseases. Filipino Americans have a high prevalence rate of hypertension and diabetes. This study investigated the dietary intake of first-generation Filipino Americans (n=210). In addition, it provides a comparison of the obesity rates using the International guideline and the WHO Asian recommendation. The dietary intake included caloric, carbohydrate, and fat intake and was determined using the Block Brief Food Frequency Questionnaire. The anthropometric measurements included actual height, weight, and waist measurements. The body mass index (BMI) and waist circumference were categorized using the International guideline and the WHO Asian recommendation to determine obesity. The caloric and carbohydrate intake were normal; however, fat intake was increased. The BMI and waist circumference showed substantial difference when using the International and Asian guidelines to determine obesity. The results highlight the increased health risks of Filipino American immigrants including a high dietary fat intake and an increased obesity rate.


Sign in / Sign up

Export Citation Format

Share Document