Single nucleotide polymorphism and asthma: A study on the genetic basis of asthma

Author(s):  
Sareh Raeiszadeh Jahromi ◽  
P.A. Mahesh ◽  
B.S. Jayaraj ◽  
Amrutha D. Holla ◽  
Sangeetha Vishweswaraiah ◽  
...  
2019 ◽  
Vol 24 ◽  
pp. 121-128
Author(s):  
Sigal Ben-Zaken ◽  
Yoav Meckel ◽  
Dan Nemet ◽  
Alon Eliakim

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.


2019 ◽  
Vol 36 (8) ◽  
pp. 1764-1767 ◽  
Author(s):  
Matthew J Christmas ◽  
Nicholas M A Smith ◽  
Benjamin P Oldroyd ◽  
Matthew T Webster

Abstract The Cape bee (Apis mellifera capensis) is a subspecies of the honeybee, in which workers commonly lay diploid unfertilized eggs via a process known as thelytoky. A recent study aimed to map the genetic basis of this trait in the progeny of a single capensis queen where workers laid either diploid (thelytokous) or haploid (arrhenotokous) eggs. A nonsynonymous single nucleotide polymorphism (SNP) in a gene of unknown function was reported to be strongly associated with thelytoky in this colony. Here, we analyze genome sequences from a global sample of A. mellifera and identify populations where the proposed thelytoky allele at this SNP is common but thelytoky is absent. We also analyze genome sequences of three capensis queens produced by thelytoky and find that, contrary to predictions, they do not carry the proposed thelytoky allele. The proposed SNP is therefore neither sufficient nor required to produce thelytoky in A. mellifera.


2012 ◽  
Vol 12 (4) ◽  
pp. 483-494 ◽  
Author(s):  
Tomas Z Ząbek ◽  
Paweł Czapla ◽  
Maciej Wnuk ◽  
Anna Lewińska ◽  
Bernadetta Oklejewicz ◽  
...  

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.


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