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The FV gene's most studied polymorphism is the single point mutation c.1691G4A leading to a p.Arg506Gln amino acid change, which determines a resistance to aPCR (activated protein C), proved to be a stroke predisposing condition [13].
In this study, we report an association between the c.677C>T and the second most studied polymorphism of the MTHFR gene, c.1298A>C, both of which are linked to reduced enzyme activity, with morphological phenotypes and varying clinical presentations of primary varicose veins.
The ACE gene located on chromosome 17q23 is highly polymorphic with an insertion/deletion of a 287-bp element within intron 16 being the most common and most studied polymorphism which results in three genotypes (D/D, I/D, and I/I) [ 11, 12].
> -wrap-foot> aBegg test for funnel plot asymmetry, which is suggestive of publication bias A variant in ACE, rs179975, was the most studied polymorphism in diabetic nephropathy, with 42 studies resulting in a pooled odds ratio of 1.24 (95% CI 1.12 1.37).
The most studied polymorphism of IL7R gene is "rs6897932" polymorphism on IL7Rα gene (IL7RA).
Perhaps the most studied polymorphism in research on GXE interactions is the serotonin-transporter gene, 5-HTTLPR.
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The Asn40Asp (A118G) polymorphism (rs1799971), located in exon I of OPRM1 gene, induces functional change of the mu-opioid receptor and becomes one of the most studied polymorphisms [ 27].
21 In the most recent meta-analysis, 19 significant evidence of association was found with the 480-bp allele of the most commonly studied polymorphism (a VNTR in the 3′ untranslated region (UTR) region of the gene) as well as with other polymorphisms in the same gene.
The most frequently studied polymorphism is a 40 base pair (bp) variable number of tandem repeat (VNTR) in the 3′-untranslated region.
The most commonly studied polymorphism in the ALAD gene, namely, the ALADG177C, yields two codominant alleles, ALAD-1 and ALAD-2.
The most commonly studied polymorphism in the gene, ALAD G177C (dbSNP ID: rs1800435) contains a G-to-C transversion at position 177 of the coding region, resulting in the substitution of asparagine for lysine.
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