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Although the three FHM genes represent the main candidate genes for understanding migraine pathogenesis also in the more common forms, several case-control association studies have indicated additional susceptibility genes implicated in migraine with and without aura [20 27].
We will focus on two main candidate genes, visual system homeobox 1 (VSX1) and superoxide dismutase 1 (SOD1).
Using the main candidate genes in families with amelogenesis imperfecta less than one quarter were found to have mutations in these genes.
For many of these main candidate genes, genetic studies have already suggested or confirmed functional polymorphisms, but we also include other potential candidate genes/polymorphisms.
Although DUX4 and FRG1 seem to be the main candidate genes, the heterogeneity of disease manifestations could probably underline a heterogeneity of gene expression due to different epigenetic alterations of in cis candidate genes.
The main candidate genes studied within the serotonergic system are those coding for the serotonin transporter (5- HTT/SLC6A4), the 1B and 2A serotonin receptors (HTR1B) and (HTR2A) and the dopamine decarboxylase (DDC) and tryptophan hydroxylase (TPH2) genes.
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PFD1140w, the main candidate gene characterized in the Francis et al. study [20] was also detected here, but only in the pool with domination of trophozoites.
Out of the many genes follistatin was considered as a main candidate gene for PCOS.
Our aim in this study was to complete a systematic scan of genes that are functionally related to the main candidate gene systems identified to date.
However, the main candidate gene, well-founded in the literature, was MRP2, while associations with U-Hg for the other genes evaluated were plausible but less well supported.
Our study identified the gene Os11g0704100, a disease resistance protein containing nucleotide binding site-leucine rich repeat domain, as the main candidate gene of Pif.
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