scholarly journals DRD2/ANKK1 Taq1A but not COMT single nucleotide polymorphisms contribute to the link between temporal impulsivity and obesity in men

2020 ◽  
Author(s):  
Filip Morys ◽  
Jakob Simmank ◽  
Annette Horstmann
Keyword(s):  
Genetic Variability ◽  
Single Nucleotide Polymorphisms ◽  
The Body ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Dopaminergic Transmission ◽  
And Gender ◽  
Gender Interactions ◽  
The Brain

AbstractTemporal impulsivity, the tendency to choose a smaller, sooner over a larger, delayed reward, is associated with single nucleotide polymorphisms (SNPs) in COMT and DRD2-related ANKK1 genes, whose products regulate dopaminergic transmission in the brain. Temporal impulsivity is also consistently associated with obesity, sometimes in a genderdependent fashion. Further, there seems to be no direct association between these SNPs and obesity. In this study, we investigated an interaction between BMI, COMT, and DRD2/ANKK1 SNPs, and temporal impulsivity. We tested three plausible models of associations between those variables: (1) genetic variability influencing BMI through temporal impulsivity and gender interactions, (2) genetic variability interacting with temporal impulsivity to influence BMI, (3) interaction of BMI and genetic variability influencing temporal impulsivity. We found evidence for the second model: in men, BMI was dependent on temporal impulsivity and the DRD2/ANKK1 SNP. It shows that increased temporal impulsivity combined with a disadvantageous DRD2/ANKK1 genotype might be a vulnerability factor for the development of obesity. Our study, even though cross-sectional, adds to the body of literature regarding the influence of the dopaminergic system on obesity measures. Our results point to a factor explaining discrepancies in results regarding associations of temporal impulsivity and BMI in women and men.

scholarly journals Single Nucleotide Polymorphisms in COL1A2 Gene and Dental Fluorosis Among 4 and 8-Year-Old Nigerian Children

2020 ◽  
pp. 1-6
Author(s):  
Ruth Valentine ◽  
Olushola Ibiyemi ◽  
Anne Maguire ◽  
Fatemeh Vida Zohoori ◽  
Simon Kometa ◽  
...  
Keyword(s):  
Drinking Water ◽  
Single Nucleotide Polymorphisms ◽  
Dental Fluorosis ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Nigerian Children ◽  
Col1a2 Gene ◽  
Cooking Water ◽  
Study Participants

Aim: To determine the association between single nucleotide polymorphisms (SNPs) within the COL1A2 gene and dental fluorosis among 4- and 8-year-old Nigerian children. Methods: A cross-sectional study was undertaken among 125 four and eight-year-old Nigerian children living in naturally fluoridated areas of Ibadan, Nigeria. Drinking and cooking water samples were collected for F analysis. Buccal mucosa swabs were collected from all children and genomic DNA extracted. Presence or absence of the SNP within the COL1A2 gene was identified by PCR and DNA sequencing for 70 of the participants. Results: The median (minimum, maximum) F concentration of drinking and cooking water were 0.05 (<0.1, 3.0) mg/L and 0.01 (<0.1, 4.0) mg/L respectively. The majority of the study participants (52.9%) were heterozygous for the SNP. There was a statistically significant association between F concentration in drinking water and the occurrence of dental fluorosis (p=0.04). F concentration in drinking water was the only statistically significant predictor of dental fluorosis (p=0.03, OR=3.64(CI=1.11-11.94)) after adjusting for F concentration in cooking water and SNPs. The risk of dental fluorosis tended to increase with the presence of SNPs AA and AC (RR > 1) but this association was not statistically significant. Conclusion: The majority of the study participants had the heterozygote SNP AC genotype of COL1A2 gene. F concentration in drinking water was the only statistically significant predictor of dental fluorosis. The risk of dental fluorosis tended to increase with the presence of SNPs AA and AC (RR > 1) but was not statistically significant.

Lack of association between delayed tooth emergence and single nucleotide polymorphisms in estrogen receptors

2021 ◽  
Vol 32 (6) ◽  
pp. 107-114
Author(s):  
Isabela Ribeiro Madalena ◽  
Caio Luiz Bitencourt Reis ◽  
Daniela Silva Barroso de Oliveira ◽  
Giovana Daniela Pecharki ◽  
Paula Cristina Trevilatto ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Oral Cavity ◽  
Estrogen Receptors ◽  
Permanent Tooth ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Age And Gender ◽  
Single Nucleotide ◽  
And Gender ◽  
Tooth Emergence

Abstract The purpose of the study was to investigate the association between single nucleotide polymorphisms (SNPs) in genes encoding estrogen receptors (ESR1 and ESR2, respectively) and delayed tooth emergence (DTE). This cross-sectional study was composed of biological unrelated children of both sexes, age ranging from 11 to 13 years old. DTE was defined when the successor primary tooth was still present in the oral cavity after its exfoliation time or the absence of the permanent tooth emergence into the oral cavity. Children were diagnosed with DTE when they had at least one delayed permanent tooth, according to age of exfoliation of each tooth proposed by The American Dental Association. Genomic DNA from saliva was used to evaluate the SNPs in ESR1 (rs9340799 and rs2234693) and ESR2 (rs1256049 and rs4986938) using Real-Time PCR. Chi-square or Fisher exact tests and Logistic Regression adjusted by age and gender were performed. SNP-SNP interaction was accessed by multifactor dimensionality reduction (MDR) analysis also adjusted by gender and age. The established alpha of this study was 5%. Among 537 included children, 296 (55%) were in the “DTE” group and the 241 (45%) were in the “Control” group. Age and gender were not statistically different among the groups (p>0.05). Genotype distribution of the SNPs rs9340799, rs2234693, rs1256049 and rs4986938 were not associated with DTE (p> 0.05). The models elected by MDR were not statistically significant either. Conclusions: The studied SNPs in ESR1 and ESR2 were not associated with permanent DTE.

scholarly journals Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1428
Author(s):  
Carmela Rita Balistreri ◽  
Claudia Leonarda Ammoscato ◽  
Letizia Scola ◽  
Tiziana Fragapane ◽  
Rosa Maria Giarratana ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Single Nucleotide Polymorphisms ◽  
Heart Defects ◽  
Chromosome 21 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cardiac Defects ◽  
Risk Alleles ◽  
And Gender ◽  
Heart Disorders

Background: Congenital heart defects (CHDs) are present in about 40–60% of newborns with Down syndrome (DS). Patients with DS can also develop acquired cardiac disorders. Mouse models suggest that a critical 3.7 Mb region located on human chromosome 21 (HSA21) could explain the association with CHDs. This region includes a cluster of genes (IFNAR1, IFNAR2, IFNGR2, IL10RB) encoding for interferon receptors (IFN-Rs). Other genes located on different chromosomes, such as the vascular endothelial growth factor A (VEGFA), have been shown to be involved in cardiac defects. So, we investigated the association between single nucleotide polymorphisms (SNPs) in IFNAR2, IFNGR2, IL10RB and VEGFA genes, and the presence of CHDs or acquired cardiac defects in patients with DS. Methods: Individuals (n = 102) with DS, and age- and gender-matched controls (n = 96), were genotyped for four SNPs (rs2229207, rs2834213, rs2834167 and rs3025039) using KASPar assays. Results: We found that the IFNGR2 rs2834213 G homozygous genotype and IL10RB rs2834167G-positive genotypes were more common in patients with DSand significantly associated with heart disorders, while VEGFA rs3025039T-positive genotypes (T/*) were less prevalent in patients with CHDs. Conclusions: We identified some candidate risk SNPs for CHDs and acquired heart defects in DS. Our data suggest that a complex architecture of risk alleles with interplay effects may contribute to the high variability of DS phenotypes.

scholarly journals The Impact of Genetic Variability of CYP1A2, ADORA2A, and AHR on Caffeine Consumption and Response among Adult New Zealanders

Proceedings ◽  
2019 ◽  
Vol 37 (1) ◽  
pp. 30
Author(s):  
Tennent ◽  
Rutherfurd-Markwick ◽  
Ali ◽  
Wham
Keyword(s):  
Cytochrome P450 ◽  
Genetic Variability ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Caffeine Consumption ◽  
Cytochrome P450 1A2 ◽  
Single Nucleotide ◽  
The Impact ◽  
New Zealanders

Three single nucleotide polymorphisms (SNPs) have known links to caffeine consumption,metabolism, and post-consumption effects and responses: cytochrome P450 1A2 (CYP1A2; rs762551) [...]

scholarly journals Interaction between genes and lifestyle factors on obesity

2008 ◽  
Vol 67 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Amelia Marti ◽  
Miguel Angel Martinez-González ◽  
J. Alfredo Martinez
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Candidate Genes ◽  
Weight Control ◽  
Lifestyle Factors ◽  
The Body ◽  
Energy Regulation ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Leptin Receptors ◽  
Body Weight Control

Obesity originates from a failure of the body-weight control systems, which may be affected by changing environmental influences. Basically, the obesity risk depends on two important mutually-interacting factors: (1) genetic variants (single-nucleotide polymorphisms, haplotypes); (2) exposure to environmental risks (diet, physical activity etc.). Common single-nucleotide polymorphisms at candidate genes for obesity may act as effect modifiers for environmental factors. More than 127 candidate genes for obesity have been reported and there is evidence to support the role of twenty-two genes in at least five different populations. Gene–environment interactions imply that the synergy between genotype and environment deviates from either the additive or multiplicative effect (the underlying model needs to be specified to appraise the nature of the interaction). Unravelling the details of these interactions is a complex task. Emphasis should be placed on the accuracy of the assessment methods for both genotype and lifestyle factors. Appropriate study design (sample size) is crucial in avoiding false positives and ensuring that studies have enough power to detect significant interactions, the ideal design being a nested case–control study within a cohort. A growing number of studies are examining the influence of gene–environmental interactions on obesity in either epidemiological observational or intervention studies. Positive evidence has been obtained for genes involved in adiposity, lipid metabolism or energy regulation such as PPARγ2 (Pro12Ala), β-adrenoceptor 2 (Gln27Glu) or uncoupling proteins 1, 2 and 3. Variants on other genes relating to appetite regulation such as melanocortin and leptin receptors have also been investigated. Examples of some recently-identified interactions are discussed.

scholarly journals Highly heritable and functionally relevant breed differences in dog behaviour

2019 ◽  
Vol 286 (1912) ◽  
pp. 20190716 ◽  
Author(s):  
Evan L. MacLean ◽  
Noah Snyder-Mackler ◽  
Bridgett M. vonHoldt ◽  
James A. Serpell
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Similarity ◽  
Genetic Architecture ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Biological Basis ◽  
Trait Variance ◽  
Breed Differences ◽  
The Brain ◽  
Shed Light

Variation across dog breeds presents a unique opportunity to investigate the evolution and biological basis of complex behavioural traits. We integrated behavioural data from more than 14 000 dogs from 101 breeds with breed-averaged genotypic data ( n = 5697 dogs) from over 100 000 loci in the dog genome. We found high levels of among-breed heritability for 14 behavioural traits (the proportion of trait variance attributable to genetic similarity among breeds). We next identified 131 single nucleotide polymorphisms associated with breed differences in behaviour, which were found in genes that are highly expressed in the brain and enriched for neurobiological functions and developmental processes, suggesting that they may be functionally associated with behavioural differences. Our results shed light on the heritability and genetic architecture of complex behavioural traits and identify dogs as a powerful model in which to address these questions.

scholarly journals Highly Heritable and Functionally Relevant Breed Differences in Dog Behavior

2019 ◽  
Author(s):  
Evan L MacLeant ◽  
Noah Snyder-Mackler ◽  
Bridgett M. vonHoldt ◽  
James A. Serpell
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Architecture ◽  
Genetic Relationships ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Biological Basis ◽  
Behavioral Traits ◽  
Breed Differences ◽  
The Brain ◽  
Insight Into

AbstractVariation across dog breeds presents a unique opportunity for investigating the evolution and biological basis of complex behavioral traits. We integrated behavioral data from more than 17,000 dogs from 101 breeds with breed-averaged genotypic data (N = 5,697 dogs) from over 100,000 loci in the dog genome. Across 14 traits, we found that breed differences in behavior are highly heritable, and that clustering of breeds based on behavior accurately recapitulates genetic relationships. We identify 131 single nucleotide polymorphisms associated with breed differences in behavior, which are found in genes that are highly expressed in the brain and enriched for neurobiological functions and developmental processes. Our results provide insight into the heritability and genetic architecture of complex behavioral traits, and suggest that dogs provide a powerful model for these questions.

scholarly journals Molecular characterization of Glucose-6-Phosphate Dehydrogenase: do single nucleotide polymorphisms affect hematological parameters in HIV positive patients?

2020 ◽  
Author(s):  
Kwabena Owusu Danquah ◽  
Kofi Mensah ◽  
Charles Nkansah ◽  
Samuel Kwasi Appiah ◽  
Mark Noagbe ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
G6pd Deficiency ◽  
Hematological Parameters ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Mean Cell Volume ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives: This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency, the 376A → G, 202G → A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine if the SNPs are associated with a deranged hematological profile. Results: Out of the 200 participants, 13.0% (26/200) were G6PD deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A → G only [Enzyme activity (EA): 1.19 U/g Hb], 202G → A only [EA: 1.41 U/g Hb], and G202/A376 SNPs [EA: 1.14 U/g Hb], respectively. Having the 376A → G mutation was associated with lower red blood cell (RBC) count [3.38 x106/µL (3.16-3.46) vs 3.95 x106/µL (3.53-4.41), p=0.010], but higher mean cell volume (MCV) [102.90 (99.40-113.0) vs 91.10 fL (84.65-98.98), p=0.041] and mean cell hemoglobin (MCH) [33.70 pg (32.70-38.50) vs 30.75 pg (28.50-33.35), p=0.038] whereas possessing the 202G → A mutation was associated with higher MCV only [98.90 fL (90.95-102.35) vs 91.10 fL (84.65-98.98), p=0.041] compared to G6PD non-deficient participants.

scholarly journals Obesity in the Balinese is associated with FTO rs9939609 and rs1421085 single nucleotide polymorphisms

PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e8327
Author(s):  
Lidwina Priliani ◽  
Sukma Oktavianthi ◽  
Ria Hasnita ◽  
Hazrina T. Nussa ◽  
Rut C. Inggriani ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Rural Areas ◽  
Nucleotide Polymorphisms ◽  
Obesity Prevalence ◽  
Single Nucleotide ◽  
Risk Alleles ◽  
Destination Area ◽  
And Gender ◽  
Urban And Rural Areas ◽  
Fto Rs9939609

Obesity prevalence is increasing worldwide, including in the Bali Province, Indonesia, a popular tourism destination area. The common single nucleotide polymorphisms (SNPs) rs9939609 and rs1421085 of the fat mass and obesity-associated (FTO) gene have been repeatedly reported as one of the important obesity genetic risk factors. We have examined the associations of FTO rs9939609 and rs1421085 SNPs with obesity in the 612 unrelated Balinese subjects living in urban and rural areas. Linear and logistic regression analyses with adjustment for age and gender were employed to investigate the association between FTO genotypes, haplotypes and obesity parameters. We found that the FTO SNPs genotypes increased BMI by 1.25 kg/m2 (p = 0.012) for rs9939609 AA and 1.12 kg/m2 (p = 0.022) for rs1421085 CC, particularly in females and in rural population. Subjects carrying these genotypes also showed a tendency to maintain high BMI, regardless of their age. Our result showed that the FTO rs9939609 and rs1421085 risk alleles were associated with increased BMI and obesity in the Balinese.

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