genetic polymorphism
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2022 ◽  
Vol 2022 ◽  
pp. 1-8
Author(s):  
Beili Feng ◽  
Hengdong Li

Objective. Current findings on the association between MMP-9 rs3918242 and susceptibility to myocardial infarction (MI) are inconsistent, and their definite relationship is discussed in this meta-analysis. Methods. Eligible literatures reporting MMP-9 rs3918242 and susceptibility to MI were searched in PubMed, Cochrane Library, CNRI, and VIP using keywords such as “MMP-9”, “matrix metallopeptidase-9” and “myocardial infarction”, “acute myocardial infarction”, “AMI”, and “polymorphism”. Data from eligible literatures were extracted for calculating OR and corresponding 95% CI using RevMan 5.3 and STATA12.0. Results. Ten independent literatures reporting MMP-9 rs3918242 and susceptibility to MI were enrolled. Compared with subjects carrying CT&TT genotype of MMP-9 rs3918242, susceptibility to MI was lower in those carrying CC genotype ( OR = 1.49 , 95 % CI = 1.19 – 1.86 , P = 0.0004 ). Such a significance was observed in the overdominant ( OR = 1.27 , 95 % CI = 1.14 – 1.41 , P < 0.0001 ) and allele genetic models ( OR = 1.43 , 95 % CI = 1.17 – 1.74 , P = 0.0005 ) as well. This finding was also valid in the Asian population. Conclusions. Mutation on MMP-9 rs3918242 has a potential relevance with susceptibility to MI.


2022 ◽  
Vol 11 (1) ◽  
pp. e47411121576
Author(s):  
Luciano Barreto Silva ◽  
Guilherme Marinho Sampaio ◽  
Rodolfo Scavuzzi Carneiro Cunha ◽  
Caroline Isabele Félix Muniz ◽  
Alexandrino Pereira Santos Neto ◽  
...  

Objective: This work aimed of to review the implications of anti-TNF-α therapy in COVID-19 patients associated with the genetic polymorphism (TNF-α polymorphisms in the region-308) of this pertinent cytokine  Methodology: Electronic searches were carried out on PUBMED Central, BVS/BIREME, Web of Science and The Cochrane Library with the aid of key-words. Results: Twenty-six articles were collected. Anti-TNF-α therapy was interpreted and evaluated. Conclusions: Although scarce information is available in the current literature, anti- TNF-α therapy seems to be a viable clinical approach for hospitalized COVID-19 patients who do not need oxygen supply. The genetic polymorphisms, although relevant, may be useful for further researched to assess the clinical response in different research groups.


2022 ◽  
Author(s):  
Ling Wu ◽  
◽  
Tao Zhang ◽  
Yao Wang ◽  
Xiao Ke Wu ◽  
...  

Review question / Objective: Early identification of women potentially who develop POI and POF is essential for early screening and treatment to improve clinical outcomes. We aim to conduct a comprehensive meta-analysis update, subgroup, ranking and network analysis for all available genetic polymorphism and associated with the POI and POF risk. Information sources: Six electronic databases will be included such as PubMed, Web of Science, Embase, MEDLINE, WANFANG DATA, CNKI. Will contact with authors by emails when necessary.


Author(s):  
Nicole Hugouvieux‐Cotte‐Pattat ◽  
Monique Royer ◽  
Erwan Gueguen ◽  
Paul Le Guen ◽  
Roderich D. Süssmuth ◽  
...  

2022 ◽  
Vol 25 (8) ◽  
pp. 797-804
Author(s):  
E. T. Ilnitskaya ◽  
M. V. Makarkina ◽  
I. V. Stepanov ◽  
I. I. Suprun ◽  
S. V. Tokmakov ◽  
...  

Local grape cultivars from different countries of the world are an important part of the gene pool of this culture. Of particular interest are the genotypes of the most ancient regions of viticulture. The territories of the subtropical zone of Georgia and the central part of Abkhazia belong to one of the centers of origin of the cultural grapevine. The purpose of the work was to genotype native Abkhazian grape cultivars, to study their genetic diversity based on DNA profiling data and to compare them with the genotypes of local varieties of other viticultural regions. Samples of plants were taken on the territory of the Republic of Abkhazia in private farmsteads and in the collection of the agricultural firm “Vina i Vody Abkhazii“ (“Wines and Waters of Abkhazia”). The genotyping of the Abkhazian cultivars Avasirhva, Agbizh, Azhapsh, Azhizhkvakva, Azhikvaca, Atvizh, Atyrkuazh, Achkykazh, Kachich was carried out using 14 DNA markers, 9 of which are standard microsatellite markers recommended for the identification of grape varieties. To improve our knowledge about the sizes of the identified alleles, we used the DNA of grape cultivars with a known allelic composition at the analyzed loci. Statistical analysis of the data showed that the observed heterozygosity for the analyzed loci exceeded expected values, which indicates a genetic polymorphism of the studied sample of varieties. Evaluation of genetic similarity within the analyzed group based on the results of genotyping at 14 loci showed that the cultivars Kachich and Azhapsh differed from the other Abkhazian varieties. The obtained DNA profiles of the Abkhazian cultivars were checked for compliance with DNA-fingerprints of grape varieties in the Vitis International Variety Catalogue. The Georgian varieties Azhizhkvakva and Tsitska turned out to be synonyms according to DNA profiles, two varieties from the Database (Italian Albana bianca and Georgian Ojaleshi) have differences in DNA-fingerprints from the varieties Atyrkuazh and Azhikvatsa only in one allele, respectively. When comparing the identified Abkhazian grape genotypes, their difference from the sample of Dagestan, Don, Greek, Turkish, Italian, Spanish, and French varieties and genetic similarity with the genotypes of Georgian grapes were shown.


SPERMOVA ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 103-108
Author(s):  
Mahmoud Hasanain ◽  
◽  
Karima Gh. M. Mahmoud ◽  
Youssef Ahmed ◽  
Abdelaziz Sakr ◽  
...  

This work aimed to investigate the genetic polymorphism of Aquaporin 7 (AQP7) gene and its association with the in-vivo fertility of Egyptian buffalo bulls. A total of 188 fresh semen ejaculates were collected from 47 buffalo bulls and subjected to semen evaluation. The bulls were grouped according to in-vivo fertility relying on sire conception rate (SCR) into high (SCR>50%, n=41) and low (SCR<50%, n=6) fertile bulls. DNA was extracted from semen and a 200 bp fragment of the AQP7 gene was amplified by PCR. The genetic polymorphism of AQP7 gene was detected by restriction fragment length polymorphism, the single strand conformation polymorphism and the nucleotide sequencing. The results revealed that SCR was significantly (p<0.001) increased in high (71.4±1.3) than low (44.7±2.8) fertile bulls while the ejaculate volume, individual motility%, lives sperm%, sperm concentration and sperm abnormalities showed a non-significant difference in both groups. The AQP7 gene showed no genetic variation in all bulls. The alignment of the resultant sequence with buffalo AQP7 gene sequence (ID: XM_006066699.2) showed 100% identity (122/122), however, deletion of A49 was discovered when the sequence was aligned with ID: XM_006066700.2 of buffalo in GenBank. In conclusion, the sire conception rate is not associated with any genetic variation in Aquaporin 7 gene. The Aquaporin 7 gene could be a highly conserved sequence in Egyptian buffalo bulls. Future research on large herd populations in different regions of AQP7 gene is required for evaluating the AQP7 gene polymorphism and its association with the fertility of Egyptian buffalo bulls.


2021 ◽  
Vol 9 (3) ◽  
pp. 136-144
Author(s):  
Arnaud Coffi AGBANLINSOU ◽  
Razack OSSENI ◽  
Marius O ADJAGBA ◽  
Ferdinand ADOUNPKE ◽  
Odile A KOUGBLENOU ◽  
...  

In Benin, schools become sometimes the hub for dealing and consuming psychoactive substances; opioids in particular. The objectives of this study are to identify the risk factors related to the use of opioids and investigate the genetic polymorphism of mu and delta opioid receptors of teenagers and young adults who consume opioids in schools. To accomplish this, 453 students participated in this study; R diversity 3.6.1 software in the RStudio environment was used to identify students who experience opioids through ASSIST V3.0 scoring. SNPs A118G on the OPRM gene (µ) and T921C on the OPRD gene (d), were searched by PCR on DNA extracts from peripheral blood of individuals. We identified 54 regular opioid users and 399 non users. This experience begins for most with the consumption of alcohol and tobacco and is facilitated by the proximity of marshlands, kiosks, and pubs near high schools and colleges. The aggressive advertisement combined with relative socio-cultural tolerance just worsen this behavioral deviance. We found no difference in the SNP frequencies of the OPRM (µ) and OPRD (d) genes between students opioids consumers and non-consumers.


2021 ◽  
Vol 11 (4) ◽  
pp. 406-415
Author(s):  
James Buttie Machete ◽  
Patrick Monametsi Kgwatalala ◽  
Goitseone Malambane ◽  
Shalaulani James Nsoso ◽  
John Cassius Moreki
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