scholarly journals Re-analysis of genetic polymorphism data supports a relationship between schizophrenia and microsatellite variability in PLA2G4A

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Craig J. Hudson ◽  
Justin X.G. Zhu ◽  
Alexandra M. Durocher
Keyword(s):  
Genetic Polymorphism ◽  
Polymorphism Data

Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample

2014 ◽  
Vol 16 (4) ◽  
pp. 238-240 ◽  
Author(s):  
Andrei Anghel ◽  
Alexandra Enache ◽  
Edward Seclaman ◽  
Gheorghe Gruin ◽  
Sorin Ursoniu ◽  
...  
Keyword(s):  
Genetic Polymorphism ◽  
Population Sample ◽  
Str Markers ◽  
Autosomal Str ◽  
Polymorphism Data ◽  
Romanian Population

scholarly journals A Coalescent Model of a Sweep from a Uniquely Derived Standing Variant

2015 ◽  
Author(s):  
Jeremy J Berg ◽  
Graham Coop
Keyword(s):  
Genetic Polymorphism ◽  
Environmental Change ◽  
Low Frequency ◽  
Evolutionary Genetics ◽  
Analytical Approximation ◽  
Analytical Investigation ◽  
Left Behind ◽  
Standing Variation ◽  
Polymorphism Data ◽  
Infinite Alleles Model

The use of genetic polymorphism data to understand the dynamics of adaptation and identify the loci that are involved has become a major pursuit of modern evolutionary genetics. In addition to the classical ``hard sweep'' hitchhiking model, recent research has drawn attention to the fact that the dynamics of adaptation can play out in a variety of different ways, and that the specific signatures left behind in population genetic data may depend somewhat strongly on these dynamics. One particular model for which a large number of empirical examples are already known is that in which a single derived mutation arises and drifts to some low frequency before an environmental change causes the allele to become beneficial and sweeps to fixation. Here, we pursue an analytical investigation of this model, bolstered and extended via simulation study. We use coalescent theory to develop an analytical approximation for the effect of a sweep from standing variation on the genealogy at the locus of the selected allele and sites tightly linked to it. We show that the distribution of haplotypes that the selected allele is present on at the time of the environmental change can be approximated by considering recombinant haplotypes as alleles in the infinite alleles model. We show that this approximation can be leveraged to make accurate predictions regarding patterns of genetic polymorphism following such a sweep. We then use simulations to highlight which sources of haplotypic information are likely to be most useful in distinguishing this model from neutrality, as well as from other sweep models, such as the classic hard sweep, and multiple mutation soft sweeps. We find that in general, adaptation from a uniquely derived standing variant will be difficult to detect on the basis of genetic polymorphism data alone, and when it can be detected, it will be difficult to distinguish from other varieties of selective sweeps.

scholarly journals Genetic Polymorphism of Matrix Metalloproteinase-9 and Susceptibility to Myocardial Infarction: A Meta-Analysis

2022 ◽  
Vol 2022 ◽  
pp. 1-8
Author(s):  
Beili Feng ◽  
Hengdong Li
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Genetic Polymorphism ◽  
Meta Analysis ◽  
Asian Population ◽  
Cochrane Library ◽  
Matrix Metallopeptidase ◽  
Matrix Metallopeptidase 9 ◽  
Polymorphism Data ◽  
Metalloproteinase 9

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.

Genetic Polymorphism and Startle Response in Treatment-Seeking Accident Survivors

2009 ◽  
Author(s):  
Anke Karl ◽  
Loretta Malta ◽  
Alexander Strobel ◽  
Katza Poehnitzsch ◽  
Sirko Rabe
Keyword(s):  
Genetic Polymorphism ◽  
Startle Response ◽  
Treatment Seeking

Genetic polymorphism in patients with colorectal and with head and neck cancer

2009 ◽  
Vol 150 (33) ◽  
pp. 1545-1549 ◽  
Author(s):  
András Csejtei ◽  
Antal Tibold ◽  
István Ember ◽  
István Kiss
Keyword(s):  
Head And Neck Cancer ◽  
Genetic Polymorphism ◽  
Head And Neck ◽  
Neck Cancer ◽  
Pcr Rflp ◽  
Xrcc1 Arg194trp

A colorectalis rákok a második leggyakoribb halálokként szerepelnek a rosszindulatú betegségek között. A fej-nyak táji daganatok halálozása Magyarországon 265%-kal emelkedett az utóbbi 30 évben. Nem lehet eléggé hangsúlyozni e két daganatcsoport közegészségügyi jelentőségét. A colorectalis daganatok esetén a GSTM1, GSTT1 enzimek, valamint a p53 72-es kodonjának, fej-nyak táji tumorok esetén az XRCC1 Arg194Trp és Arg399Gln polimorfizmusainak hatását elemeztük. Intraoperatíve eltávolított daganatos és megfelelően illesztett daganatmentes mintákat válogattunk. A formalinban fixált mintákat deparaffinizáltuk és proteináz-K-emésztésnek vetettük alá. A genotipizálást PCR, illetve a fej-nyak táji tumorok esetén PCR-RFLP módszerrel végeztük. A vizsgált allélek gyakoriságában nem volt különbség a daganatos és a kontrollcsoport között. Túlélés tekintetében szignifikáns különbséget találtunk a GSTM1 és a p53 allélek között Dukes B stádiumú colorectalis daganatok esetén és az XRCC1 194 allélek között III-as stádiumú fej-nyak táji tumorokban. A fenti típusú genetikai különbségek szisztematikus vizsgálata a jövőben hozzájárulhat az egyéni rizikóbecslés és az individualizált kezelések megalapozásához.

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