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Furthermore, we compared the allele frequency of this polymorphism in two locations with different malaria endemicity in the past.
The genotype frequency of this polymorphism was determined by using a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay.
Methods: The genotype frequency of this polymorphism was determined by using a polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) assay.
However, there was no study in literature indicating the frequency of this polymorphism in WT patients.
The aim of the present study was to compare the frequency of this polymorphism in the CR of mtDNA in patients with coronary artery disease (CAD, n = 482) and type 2 diabetes mellitus (T2DM, n = 505) from two study centers, with healthy individuals (n = 1481) of Middle European descent in Austria.
In case of amino acid 474, the nonsynonymous substitution was predicted to be damaging (i.e., cause functional alteration), but the derived allele frequency of 0.79 in African-Americans and 0.87 in European-Americans suggests that positive selection acted to increase the frequency of this polymorphism.
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The genotype frequencies of this polymorphism show ethnic variation and the +45G polymorphic allele has been associated with insulin resistance and type 2 diabetes (T2D) in several populations; 13, 14 however, their functional effects are undefined.
Moreover, a significant difference between the allelic frequencies of this polymorphism in CD and UC patients is observed (p = 0.027), concordantly with a recent study showing that only half of the known genes associated with CD are shared by UC [30].
The present study is the first to observe the frequencies of this polymorphism in a specific population and also the first to associate this polymorphism with radiotherapy.
In addition, given that the genotype frequencies of this polymorphism were not in Hardy Weinberg equilibrium, this may be an artefactual association which would need confirmation in other populations.
As incidences of gastric cancer are high in Chinese, Japanese and Koreans, high frequencies of this polymorphism in Asian populations may be part of explanation.
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