scholarly journals Identification of the Genetic Basis for Complex Disorders by Use of Pooling-Based Genomewide Single-Nucleotide–Polymorphism Association Studies

2007 ◽  
Vol 80 (1) ◽  
pp. 126-139 ◽  
Author(s):  
John V. Pearson ◽  
Matthew J. Huentelman ◽  
Rebecca F. Halperin ◽  
Waibhav D. Tembe ◽  
Stacey Melquist ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Genetic Basis ◽  
Association Studies ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Complex Disorders ◽  
Single Nucleotide Polymorphism Association

scholarly journals Genetic structure of Hucul and Anglo-Arabian horses at the Tert locus

2012 ◽  
Vol 12 (4) ◽  
pp. 483-494 ◽  
Author(s):  
Tomas Z Ząbek ◽  
Paweł Czapla ◽  
Maciej Wnuk ◽  
Anna Lewińska ◽  
Bernadetta Oklejewicz ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Genetic Basis ◽  
Gene Sequence ◽  
Association Studies ◽  
Snp Markers ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genetic Studies ◽  
Tert Gene ◽  
Degree Of Differentiation

Abstract The objective of the study was to identify single nucleotide polymorphism (SNP) genetic markers in the equine TERT gene sequence, which were used to assess the degree of differentiation between Anglo-Arabian and Hucul horses. Polymorphisms were identified by sequencing 30 amplification products representing 18000 bp of TERT sequences. Twenty-seven SNP markers were investigated, which were at genetic equilibrium. Haplotypes and genotypes were determined, and usefulness of polymorphisms for genetic studies was assessed based on minor allele frequency (MAF). Alleles characteristic of both horse breeds were identified. SNP markers with MAF > 0.18 were considered suitable for genetic analyses concerning association studies and parentage testing. In total 26 haplotypes were identified, of which three were common to the investigated horse populations. Twelve haplotypes were found only in Anglo-Arabians and 11 in Hucul horses. Identified polymorphism of TERT gene might be useful in the search for genetic basis of aging in the Equus caballus species.

scholarly journals Prevalence of ACSL (rs6552828) polymorphism among runners

2019 ◽  
Vol 24 ◽  
pp. 121-128
Author(s):  
Sigal Ben-Zaken ◽  
Yoav Meckel ◽  
Dan Nemet ◽  
Alon Eliakim
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Genetic Basis ◽  
Maximal Oxygen Consumption ◽  
Professional Athletes ◽  
Distance Runners ◽  
Nucleotide Polymorphism ◽  
Long Distance ◽  
Single Nucleotide ◽  
The Common

The ACSL A/G polymorphism is associated with endurance trainability. Previous studies have demonstrated that homozygotes of the minor AA allele had a reduced maximal oxygen consumption response to training compared to the common GG allele homozygotes, and that the ACSL A/G single nucleotide polymorphism explained 6.1% of the variance in the VO2max response to endurance training. The contribution of ACSL single nucleotide polymorphism to endurance trainability was shown in nonathletes, however, its potential role in professional athletes is not clear. Moreover, the genetic basis to anaerobic trainability is even less studied. Therefore, the aim of the present study was to examine the prevalence of ACSL single nucleotide polymorphism among professional Israeli long distance runners (n=59), middle distance runners (n=31), sprinters and jumpers (n=48) and non-athletic controls (n=60). The main finding of the present study was that the ACSL1 AA genotype, previously shown to be associated with reduced endurance trainability, was not higher among sprinters and jumpers (15%) compared to middle- (16%) and long-distance runners (15%). This suggests that in contrast to previous studies indicating that the ACSL1 single nucleotide polymorphism may influence endurance trainability among non-athletic individuals, the role of this polymorphism among professional athletes is still not clear.

scholarly journals Single nucleotide polymorphism of the β-lactoglobulin gene in sheep breeds reared in Bulgaria

2020 ◽  
Vol 23 (3) ◽  
pp. 295-303
Author(s):  
D. Gencheva
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Polymorphic Locus ◽  
Association Studies ◽  
Allele Frequencies ◽  
Production Traits ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Sheep Population ◽  
Sheep Breeds ◽  
Β Lactoglobulin

In the present study, single nucleotide polymorphism in exon II of the β-lactoglobulin gene was investigated in four Bulgarian sheep breeds: Bulgarian Dairy Synthetic Population sheep (BDSP), Copper-red Shumen sheep (CRSH), Stara Zagora sheep (STZG) and Pleven Blackhead sheep (PLBH). Two genetic variants of β-LG gene (A and B) have been identified through PCR-RFLP assay. A 103 bp fragment of the polymorphic β-LG locus were amplified and digested with endonuclease enzyme RsaI. The obtained restriction fragments revealed three genotypes: AA, AB and BB, observed in 31%, 65.5% and 3.5% of the BDSP population and in 48%, 28% and 24% of CRSH sheep population, respectively, with departure from the Hardy-Weinberg equilibrium (P<0.05) in these groups. The allele frequencies demonstrated a prevalence of the A allele (0.638 and 0.620) over the B allele (0.362 and 0.380) in both populations. On the contrary, the distribution of allele frequencies in STZG and PLBH was 0.240 and 0.100 for allele A, respectively and 0.760 and 0.900 for allele B. Therefore, the homozygous BB genotype in these sheep populations was more frequently encountered (0.520 and 0.800) than the heterozygous AB genotype (0.480 and 0.200), with HWE correspondence (P>0.1). The homozygous genotype AA was absent in STZG and PLBH sheep populations. The greatest Nei’s genetic distance calculated by UPGMA method was found between the populations BDSPand PLBH (0.5334), while the closest relationship (0.0006) was established between CRSH and BDSP. The results obtained from the present investigation confirmed the presence of the SNP polymorphism in exon II of the β-lactoglobulin gene. Therefore, the genetic variability established in this polymorphic locus could be applied in further association studies with milk production traits in sheep.

scholarly journals Transcriptomics and functional genetic polymorphisms as biomarkers of micronutrient function: focus on selenium as an exemplar

2011 ◽  
Vol 70 (3) ◽  
pp. 365-373 ◽  
Author(s):  
John Hesketh ◽  
Catherine Méplan
Keyword(s):  
Gene Expression ◽  
Single Nucleotide Polymorphism ◽  
Stress Response ◽  
Association Studies ◽  
Disease Association ◽  
Genomic Research ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Selenoprotein S

Micronutrients are essential for optimal human health. However, in some cases, raising intake by supplementation has not proven to be beneficial and there is even some evidence that supplementation may increase disease risk, highlighting the importance of assessing the functional status of micronutrients. Techniques such as gene microarrays and single-nucleotide polymorphism analysis have the potential to examine effects of micronutrient intake on patterns of gene expression and inter-individual variation in micronutrient metabolism. Recent genomic research related to selenium (Se) provides examples illustrating how studies of functional single-nucleotide polymorphism and gene expression patterns can reveal novel biomarkers of micronutrient function. Both in vitro and in vivo experiments show that there are functionally relevant polymorphisms in genes encoding glutathione peroxidases 1, 3 and 4, selenoprotein P, selenoprotein S and the 15 kDa selenoprotein. Disease association studies investigating these gene variants have so far been relatively small but an association of a polymorphism in the selenoprotein S gene with colorectal cancer risk has been replicated in two distinct populations. Future disease association studies should examine effects of multiple variants in combination with nutritional status. Gene microarray studies indicate that changes in Se intake alter expression of components of inflammatory, stress response and translation pathways. Our hypothesis is that Se intake and genetic factors have linked effects on stress response, inflammation and apoptotic pathways. Combining such data in a systems biology approach has the potential to identify both biomarkers of micronutrients status and sub-group populations at particular risk.

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