Background The H19 is a maternally expressed imprinted gene transcribing a long noncoding RNA (lncRNA), which has previously been reported to be involved in tumorigenesis and cancer progression. The aim of this study was to evaluate the associations between two lncRNA‐H19 (rs3741219 T>C and rs217727 C>T) gene polymorphisms with the risk of breast cancer (BC). Methods In a case‐control investigation, we evaluated 150 BC patients and 100 cancer‐free subjects in East Azerbaijan Province of Iran. To assess two gene polymorphisms, the polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) method was used. Results The genotype frequencies of two lncRNA‐H19 (rs217727 C>T and rs3741219 T>C) gene polymorphisms TT + TC/CC and CC + CT/TT have not shown a statistically significant association with the risk of BC (P = 0.065; OR = 0.967; 95% CI, 0.938‐0.996) and (P = 0.510; OR = 1.583; 95% CI, 0.399‐6.726), respectively. In addition, our findings revealed a significant differences in allele frequencies in lncRNA‐H19 rs217727 C>T polymorphism between groups (P = 0.033; OR = 1.985; 95% CI, 1.048‐3.761). Conclusion Our findings suggested that rs217727 C>T polymorphism may be involved in the pathogenesis of BC, whereas rs3741219 T>C variation may not be involved in the genetic background of BC in Iranian.
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