Association of RB1 rs9568036 and CDKN1A rs1801270 polymorphisms with retinoblastoma susceptibility

To investigate the association of polymorphisms (rs9568036 and rs1801270) in the RB1 and P21 genes with susceptibility to retinoblastoma (RB).

This case–control study was designed with 50 patients with RB and 50 controls. Polymerase chain reaction was performed to amplify the intron 17 of RB1 rs9568036 and exon 2 of P21 rs1801270. Then, all the amplified fragments were subjected to directional sequencing, and finally, the association between genotypes and the development of RB risk and invasion was studied.

A statistically significant difference in genotypic or allele frequencies of single‑nucleotide polymorphisms (SNPs) (rs1801270 and rs9568036) was found between Iranian RB patients and the controls(P > 0.05). However, the frequency of genotype RB1 rs9568036 observed a statically significant difference in the RB patients compared to the control group, and the nonwild‑type allele A increased the chance of susceptibility to developing RB by 2.92 times.

The rs9568036 SNP in the RB1 gene may increase susceptibility to the development of RB in the affected patients. In spite of that, this polymorphism does not influence RB patient’s invasion. Further investigation with a large enough sample size is recommended to validate this hypothesis.