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 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 Identification of 1093-bp intron A, SNPS and indels discovered in the porcine pregnancy-associated glycoprotein 2-like (pPAG2-L) gene subfamily in pigs

Genetika ◽  
2020 ◽  
Vol 52 (3) ◽  
pp. 851-866
Author(s):  
Martyna Bieniek-Kobuszewska ◽  
Grzegorz Panasiewicz ◽  
Bożena Szafranska
Keyword(s):  
Genetic Variation ◽  
Single Nucleotide Polymorphisms ◽  
General Knowledge ◽  
Nucleotide Polymorphisms ◽  
Porcine Genome ◽  
Large White ◽  
Bac Clone ◽  
Single Nucleotide ◽  
Noncoding Regions ◽  
Gene Subfamily

The objective of this study was to identify the intron A sequence (between exons 1 and 2) of pPAG2-L, novel single nucleotide polymorphisms (SNPs) and mutations (InDels) within intron A in the crossbreed (Landrace x Large White), Hirshmann hybrid and Duroc pigs. Genomic templates were isolated from leukocytes, amplified, and the gel-out were purified and then sequenced. Positive amplification control included CH242-60C13 BAC clone (Duroc) containing pPAG1-L and pPAG2-L. This is the first report that describes the 1093-bp intron A sequence from the pPAG2-L (Acc. No. KF471015; GenBank), which increased general knowledge of the porcine genome. Novel SNPs/InDels were identified within the intron A of the pPAG2-L in the crossbreeds (72), Duroc (45) and Hirshmann hybrids (17). This is a pioneer study describing identification of the intron A and SNPs/InDels in crossbreeds that provides a novel major pattern that represents a large portion of the genetic variation within the porcine genome. This information should be valuable when genotyping (coding and noncoding regions) multiparous sows from many breeds, in which reproductive phenotypes are known.

Phylogeny and genetic variation in the genus Eranthis using nrITS and cpIS single nucleotide polymorphisms

2019 ◽  
Vol 60 (2) ◽  
pp. 239-252 ◽  
Author(s):  
Seo Young Park ◽  
Mi Jin Jeon ◽  
Sang Hoon Ma ◽  
Eric Wahlsteen ◽  
Keenan Amundsen ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide
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