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.

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 Impact of Genetic Variability on Physiological Responses to Caffeine in Humans: A Systematic Review

Nutrients ◽  
2018 ◽  
Vol 10 (10) ◽  
pp. 1373 ◽  
Author(s):  
Jacob Fulton ◽  
Petros Dinas ◽  
Andres Carrillo ◽  
Jason Edsall ◽  
Emily Ryan ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Analysis ◽  
Physiological Responses ◽  
Controlled Trials ◽  
Nucleotide Polymorphisms ◽  
Caffeine Consumption ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Aryl Hydrocarbon

Emerging research has demonstrated that genetic variation may impact physiological responses to caffeine consumption. The purpose of the present review was to systematically recognize how select single nucleotide polymorphisms (SNPs) impact habitual use of caffeine as well as the ergogenic and anxiogenic consequences of caffeine. Two databases (PubMed and EBSCO) were independently searched using the same algorithm. Selected studies involved human participants and met at least one of the following inclusion criteria: (a) genetic analysis of individuals who habitually consume caffeine; (b) genetic analysis of individuals who underwent measurements of physical performance with the consumption of caffeine; (c) genetic analysis of individuals who underwent measurements of mood with the consumption of caffeine. We included 26 studies (10 randomized controlled trials, five controlled trials, seven cross-sectional studies, three single-group interventional studies and one case-control study). Single nucleotide polymorphisms in or near the cytochrome P450 (CYP1A2) and aryl hydrocarbon receptor (AHR) genes were consistently associated with caffeine consumption. Several studies demonstrated that the anxiogenic consequences of caffeine differed across adenosine 2a receptor (ADORA2A) genotypes, and the studies that investigated the effects of genetic variation on the ergogenic benefit of caffeine reported equivocal findings (CYP1A2) or warrant replication (ADORA2A).

scholarly journals CDKAL1-Related Single Nucleotide Polymorphisms Are Associated with Insulin Resistance in a Cross-Sectional Cohort of Greek Children

PLoS ONE ◽  
2014 ◽  
Vol 9 (4) ◽  
pp. e93193 ◽  
Author(s):  
Mathias Rask-Andersen ◽  
Gaëtan Philippot ◽  
George Moschonis ◽  
George Dedoussis ◽  
Yannis Manios ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide

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 Genetic variation in toll like Receptors 2, 7, 9 and interleukin-6 is associated with Cytomegalovirus infection in late pregnancy

2020 ◽  
Author(s):  
Doreen Mhandire ◽  
Kudakwashe Mhandire ◽  
Mulalo Magadze ◽  
Ambroise Wonkam ◽  
Andre P Kengne ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Polymorphisms ◽  
Allele Frequencies ◽  
Late Gestation ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Cmv Infection ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Cmv Status

Abstract Background: Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the role of host genetic polymorphisms in modulating maternal CMV status is inconclusive. This study investigated the possible association of single nucleotide polymorphisms in toll like receptor (TLR) and cytokine genes with maternal plasma CMV DNA status in black Zimbabweans. Methods: In a cross-sectional study, 110 women in late gestation who included 36 CMV infected cases and 74 CMV uninfected, age and HIV status matched controls were enrolled. Twenty single nucleotide polymorphisms in 10 genes which code for proteins involved in immunity against CMV were genotyped using Iplex GOLD SNP genotyping protocol on the Agena MassARRAY® system. Statistical analyses were performed using Stata SE and the ‘Genetics’ and ‘SNPassoc’ packages of the statistical package R. Results: The TLR7 rs179008A>T (p<0.001) polymorphism was associated while the TLR9 rs352139T>C (p=0.049) polymorphism was on the borderline for association with CMV positive (CMV+) status. In contrast, the interleukin ( IL)-6 rs10499563T>C (p<0.001) and TLR2 rs1816702C>T (p=0.001) polymorphisms were associated with CMV negative (CMV-) status. Furthermore, allele frequencies of SNPs in TLR2, TLR4, TLR9, TLR7 , IL - 6 , IL-10 , IL-28B , IL-1A and interferon AR1 ( IFNAR1 ) genes are being reported here for the first time in a Zimbabwean population. The allele frequencies in the Zimbabwean population re generally comparable to other African populations but different when compared to European and Asian populations. Conclusions: Toll like receptor and interleukin genetic polymorphisms influence CMV status in late gestation among black Zimbabweans. This is attributable to possible modulation of immune responses to CMV reactivation in a population previously exposed to CMV infection.

scholarly journals Cross-sectional study of the association of 5 single nucleotide polymorphisms with enalapril treatment response among South African adults with hypertension

Medicine ◽  
2021 ◽  
Vol 100 (46) ◽  
pp. e27836
Author(s):  
Charity Masilela ◽  
Brendon Pearce ◽  
Joven Jebio Ongole ◽  
Oladele Vincent Adeniyi ◽  
Rabia Johnson ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Treatment Response ◽  
South African ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Sectional Study ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Enalapril Treatment

Single nucleotide polymorphisms in Renalase and KCNQ1 genes and female infertility: A cross‐sectional study in Pakistan

Andrologia ◽  
2019 ◽  
Vol 51 (10) ◽  
Author(s):  
Syeda Sadia Fatima ◽  
Rehana Rehman ◽  
Russell Seth Martins ◽  
Faiza Alam ◽  
Mussarat Ashraf
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cross Sectional Study ◽  
Female Infertility ◽  
Nucleotide Polymorphisms ◽  
Sectional Study ◽  
Cross Sectional ◽  
Single Nucleotide

scholarly journals Genetic variation in toll like Receptors 2, 7, 9 and interleukin-6 is associated with Cytomegalovirus infection in late pregnancy

2020 ◽  
Author(s):  
Doreen Mhandire ◽  
Kudakwashe Mhandire ◽  
Mulalo Magadze ◽  
Ambroise Wonkam ◽  
Andre P Kengne ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Polymorphisms ◽  
Allele Frequencies ◽  
Late Gestation ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Cmv Infection ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Cmv Status

Abstract Background: Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the role of host genetic polymorphisms in modulating maternal CMV status is inconclusive. This study investigated the possible association of single nucleotide polymorphisms in toll like receptor (TLR) and cytokine genes with maternal plasma CMV DNA status in black Zimbabweans. Methods: In a cross-sectional study, 110 women in late gestation who included 36 CMV infected cases and 74 CMV uninfected, age and HIV status matched controls were enrolled. Twenty single nucleotide polymorphisms in 10 genes which code for proteins involved in immunity against CMV were genotyped using Iplex GOLD SNP genotyping protocol on the Agena MassARRAY® system. Statistical analyses were performed using Stata SE and the ‘Genetics’ and ‘SNPassoc’ packages of the statistical package R. Results: The TLR7 rs179008A>T (p<0.001) polymorphism was associated while the TLR9 rs352139T>C (p=0.049) polymorphism was on the borderline for association with CMV positive (CMV+) status. In contrast, the interleukin ( IL)-6 rs10499563T>C (p<0.001) and TLR2 rs1816702C>T (p=0.001) polymorphisms were associated with CMV negative (CMV-) status. Furthermore, allele frequencies of SNPs in TLR2, TLR4, TLR9, TLR7 , IL - 6 , IL-10 , IL-28B , IL-1A and interferon AR1 ( IFNAR1 ) genes are being reported here for the first time in a Zimbabwean population. The allele frequencies in the Zimbabwean population re generally comparable to other African populations but different when compared to European and Asian populations. Conclusions: Toll like receptor and interleukin genetic polymorphisms influence CMV status in late gestation among black Zimbabweans. This is attributable to possible modulation of immune responses to CMV reactivation in a population previously exposed to CMV infection.

scholarly journals Genetic variation in toll like Receptors 2, 7, 9 and interleukin-6 is associated with Cytomegalovirus infection in late pregnancy 

2020 ◽  
Author(s):  
Doreen Mhandire ◽  
Kudakwashe Mhandire ◽  
Mulalo Magadze ◽  
Ambroise Wonkam ◽  
Andre P Kengne ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Polymorphisms ◽  
Allele Frequencies ◽  
Late Gestation ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Cmv Infection ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Cmv Status

Abstract Background: Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the role of host genetic polymorphisms in modulating maternal CMV status is inconclusive. This study investigated the possible association of single nucleotide polymorphisms in toll like receptor (TLR) and cytokine genes with maternal plasma CMV DNA status in black Zimbabweans.Methods: In a cross-sectional study, 110 women in late gestation who included 36 CMV infected cases and 74 CMV uninfected, age and HIV status matched controls were enrolled. Twenty single nucleotide polymorphisms (SNPs) in 10 genes which code for proteins involved in immunity against CMV were genotyped using Iplex GOLD SNP genotyping protocol on the Agena MassARRAY® system. Statistical analyses were performed using Stata SE and the ‘Genetics’ and ‘SNPassoc’ packages of the statistical package R.Results: The TLR7 rs179008A>T (p<0.001) polymorphism was associated while the TLR9 rs352139T>C (p=0.049) polymorphism was on the borderline for association with CMV positive (CMV+) status. In contrast, the interleukin (IL)-6 rs10499563T>C and (p<0.001) TLR2 rs1816702C>T (p=0.001) polymorphisms were associated with CMV negative (CMV-) status. Furthermore, allele frequencies of SNPs in TLR2, TLR4, TLR9, TLR7, IL-6, IL-10, IL-28B, IL-1A and interferon AR1 (IFNAR1) genes are being reported here for the first time in a Zimbabwean population. The allele frequencies in the Zimbabwean population re generally comparable to other African populations but different when compared to European and Asian populations.Conclusions: Toll like receptor and interleukin genetic polymorphisms influence CMV status in late gestation among black Zimbabweans. This is attributable to possible modulation of immune responses to CMV reactivation in a population previously exposed to CMV infection.

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