Genotyping When analyzing SNP genotype associations under the three inheritance models, the variants rs10771279 ( ITPR2 ) in the codominant and recessive models, rs4903064 ( DPF3 ) in the codominant, dominant, and recessive models, and rs7579899 ( EPAS1 ) in the recessive model showed nominally significant differences in genotype frequencies between RCC cases and healthy controls ( Table 2 ).
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Validation of <i>ITPR2</i>, <i>DPF3</i>, <i>EPAS1</i>, and <i>PVT1</i>-associated SNPs as biomarkers for RCC in an independent case-control cohort.
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Notably, both rs1049380 ( ITPR2 ) and rs10771279 ( ITPR2 ) in kidney tissue followed the expression trends described in GTEx; however, these differences did not reach statistical significance in our FFPE analyses.