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Finding modifier genes in humans is difficult, especially controlling for environmental factors.
Over the past few years, many studies have been done on genetic modification, and major advances have occurred in both understanding and practice with regard to targeting modifier genes in various diseases such as cancer, arrythmia, and cystic fibrosis (Gusella et al., 2014, Luhmann e al., 2015).
This targeted study has generated important "negative" data regarding modifier genes in CF, which is not possible through SNP-based platforms (e.g. Ilumina 550K chip) because these platforms do not test for all of the pertinent SNPs necessary to establish ABO, Secretor and Lewis status.
However, functional modifier genes in HCM largely remain unclear.
Supplementary Table 2 Genotype of selected, putative modifier genes in our 6 CTSK-dependent patients.
That mutations in ADAMTSL2 cause different phenotypes in humans, dogs and mice suggests potential modifier genes in the respective species.
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Function of modifier gene in mitochondrial hearing loss was first reported by Bykhovskaya et al. in a non-syndromic hearing loss (NSHL) Arab-Israeli family bearing 12S rRNA (m.1555A>G) mutation (Bykhovskaya et al., 2004).
However, subgroup analyses suggested that carriers of the MTHFR 677 T allele may have an increased risk for chronic cluster headache, suggesting a need for additional studies in order to evaluate a possible role of MHTFR as modifier gene in the disorder [38].
Boc is therefore a silent HPE modifier gene in mice.
The AHI1 gene was screened as a candidate modifier gene in these three patients.
A typical example of a modifier gene in action is provided by long QT syndrome.
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