In contrast, only the variant homozygotes of CASP10 I522L out of all SNPs in genes involved in the extrinsic apoptotic pathway had significantly lower AC (159.49 ± 171.44) than the II homozygote (239.07 ± 205.18, P = .046) as well as a significant trend of lower AC with increasing number of the variant alleles ( P = .046).
In the present study with apparently normal primary lymphocytes, we found that all minor variant alleles of the three p53 polymorphisms were associated with a higher AC phenotype and that the overall effects on the AC phenotype appeared to be affected by the CASP9 Q221R polymorphism, but the interaction between polymorphisms of p53 and CASP9 was only borderline significant due to a limited study power.