Unknown

Dataset Information

0

Analytical Validation of SOD2 Genotyping.


ABSTRACT: Manganese superoxide dismutase-2 (SOD2) plays a crucial role in cells' protection against mitochondrial oxidative damage. A genetic polymorphism in the mitochondrial targeting sequence of the SOD2 gene has been implicated in various diseases, including prostate cancer. Paller et al. have shown an increase in prostate-specific antigen (PSA) doubling time in patients with the Ala/Ala (wildtype) genotype when treated with pomegranate/grape extract antioxidants. We developed and validated a pyrosequencing assay that detects the common germline SOD2 SNP (rs_4880) with the aim of identifying men with castrate-resistant prostate cancer eligible for an antioxidant therapy clinical trial. We first selected 37 samples from the 1000 genomes study with known genotypes determined using Illumina-based sequencing and confirmed them by Sanger sequencing. In a blinded design, we then performed the new pyrosequencing assay on these samples and assigned genotypes. Genotypes for all 37 samples (13 homozygous Ala, 12 heterozygous Ala/Val, and 12 homozygous Val) were all concordant by pyrosequencing. The pyrosequencing assay has been live since May 2018 and has proven to be robust and accurate.

SUBMITTER: Debeljak M 

PROVIDER: S-EPMC9844328 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

altmetric image

Publications

Analytical Validation of <i>SOD2</i> Genotyping.

Debeljak Marija M   Riel Stacy S   Lin Ming-Tseh MT   Eshleman James R JR   Paller Channing J CJ  

Methods and protocols 20221231 1


Manganese superoxide dismutase-2 (<i>SOD2</i>) plays a crucial role in cells' protection against mitochondrial oxidative damage. A genetic polymorphism in the mitochondrial targeting sequence of the <i>SOD2</i> gene has been implicated in various diseases, including prostate cancer. Paller et al. have shown an increase in prostate-specific antigen (PSA) doubling time in patients with the Ala/Ala (wildtype) genotype when treated with pomegranate/grape extract antioxidants. We developed and valida  ...[more]

Similar Datasets

| S-EPMC9227988 | biostudies-literature
| S-EPMC4816711 | biostudies-literature
| S-EPMC11837537 | biostudies-literature
| S-EPMC8258065 | biostudies-literature
| S-EPMC7877843 | biostudies-literature
| S-EPMC11646296 | biostudies-literature
2008-08-06 | GSE8726 | GEO
2020-10-28 | GSE159289 | GEO
| S-EPMC10547200 | biostudies-literature
| S-EPMC5109744 | biostudies-literature