scholarly journals ACTN3’s R577x Single Nucleotide Polymorphism Allele Distribution Differs Significantly in Professional Football Players According to their Field Position

2020 ◽  
Author(s):  
Enric Clos ◽  
Ricard Pruna ◽  
Matilda Lundblad ◽  
Rosa Artells ◽  
Nicola Maffulli
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Football Players ◽  
Professional Football ◽  
Single Nucleotide Polymorphism Allele ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Allele Distribution ◽  
Field Position

scholarly journals Analysis Of MYO1H Single Nucleotide Polymorphism In Class III Malocclusion With Mandibular Prognathism: A Preliminary Study

2017 ◽  
Vol 16 (2) ◽  
Author(s):  
Siti Nazirah Yahya ◽  
Nurul Syafiqah Abdul Razak ◽  
Noraini Abu Bakar ◽  
Khairani Idah Mokhtar ◽  
Azrul Fazwan Kharuddin
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Local Population ◽  
Class I ◽  
Class Iii ◽  
Class Iii Malocclusion ◽  
Nucleotide Polymorphism ◽  
Marker Allele ◽  
Single Nucleotide ◽  
Allele Distribution ◽  
Mandibular Prognathism

Introduction: Evidence suggests that several genes; including MYO1H, play an important role in the etiology of Class III malocclusion. Single nucleotide polymorphism (SNP) in marker rs10850110 (locus 12q24.11) within MYO1H gene has been associated with the incidence of mandibular prognathism (MP). MYO is a class 1 myosin that is responsible for the synthesis of Matrilin-1; an important protein involved in the formation of cartilage's extracellular matrix, hence is implicated in the formation of mandibular condyle cartilage. This study aimed to detect the presence of MYO1H (rs10850110) SNP and to determine its genotype and allele distribution in MP patient in the local population. Materials and Methods: The sample comprises of 31 patients; 14 patients from class I malocclusion (control samples) and 17 patients from class III malocclusion (MP). Cephalometric measurements were performed prior to saliva samples collection. The DNA was amplified using the specific primers for the marker rs10850110 and the genotyping was done by sequencing. Chi-square test was used to determine the over-representation of marker allele (p<0.05). Results:  Presence of MYO1H SNP (rs10850110) was detected in local population analysed and the distribution of its genotype and allele could be observed. There were significant differences between allele (p=0.000) and genotype (p=0.000) frequency within control (Class I) and Class III malocclusion. Conclusion(s):  Our findings are in agreement with previous studies suggesting positive influence of MYO1H (rs10850110) SNP in the incidence of MP. Further studies should be developed in order to understand the exact role and mechanism of MYO1H in different classes of malocclusions.

Linkage disequilibrium and haplotype analysis of Src and Yes1 genes in thyroid cancer

2020 ◽  
Vol 16 (12) ◽  
pp. 779-792
Author(s):  
Asif Nisar ◽  
Ishrat Mahjabeen ◽  
Azhar Mehmood ◽  
Malik Waqar Ahmed ◽  
Khalida Khurshid ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Thyroid Cancer ◽  
Linkage Disequilibrium ◽  
Haplotype Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Allele Distribution ◽  
Increased Risk ◽  
Src Gene ◽  
Thyroid Cancer Risk

Purpose: This study was planned to examine the effects of Src and Yes1 single nucleotide polymorphism (SNPs) on the risk of thyroid cancer in 499 patients and 500 controls. Materials & methods: Three SNPs of Src gene and three SNPs of Yes1 gene were analyzed using Tetra-primer ARMS-PCR followed by sequencing. Results: rs121913314 of Src gene genotype TT showed 32-fold increased risk of thyroid cancer and rs2305994 of Yes1 genotypes TT and CT showed 2.7-fold and 16-fold increased risk in thyroid cancer (p < 0.0001). Haplotype analysis revealed that CATGCC, CATGCT, CATGTC, CATGTT, TATGCC and TATGTTA haplotypes are associated with thyroid cancer risk. Conclusion: Results showed that genotypes and allele distribution of Src and Yes1 genes are significantly linked with increased risk of thyroid cancer.

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