Interleukin 1β 511T C genetic variant contributes to recurrent pregnancy loss risk and peripheral natural killer cell proportion

IL-1b -511CC genotype was associated with increased recurrent pregnancy loss risk and peripheral natural killer cell proportion.


Nam Keun Kim, Ph.D., Jung O. Kim, M.S., Woo Sik Lee, M.D., Ph.D., Bo Eun Lee, M.S., Young Joo Jeon, M.S., Young Ran Kim, M.D., Ph.D., Sang Hee Jung, M.D., Sung Woon Chang, M.D., Ph.D.

Volume 102, Issue 1, Pages 206–212.e5



To identify whether interleukin gene polymorphisms are risk factors for idiopathic recurrent pregnancy loss (RPL) in Korean women.


Case–control study.


Hospital-based study.


A cohort of 385 idiopathic RPL patients and 232 controls with Korean ethnicity.



Main Outcome Measure(s):

Genotyping was assessed with a polymerase chain reaction–restriction fragment length polymorphism assay. We examined polymorphisms in three interleukin (IL) genes: IL-1β, IL-4, and IL-10.


The IL-1β -511T>C polymorphism was associated with RPL (-511TT vs. -511CC: adjusted odds ratio 1.826; 95% confidence interval 1.130–2.953). Allelic gene–gene interaction analysis revealed that the T/B2/G (IL-1β/IL-4/IL-10) allele combination was only detected in the RPL group (adjusted odds ratio 20.046; 95% confidence interval 1.188–338.204). The proportion of peripheral natural killer cells was higher in patients with the IL-1β -511C allele compared with the -511T allele.


According to these results, IL-1β -511T>C may be a predisposing factor to RPL susceptibility. However, the mechanism underlying the function of IL-1β -511T>C in RPL remains to be determined, and further studies are needed to improve understanding of the roles of IL-1β -511T>C, using a larger and more heterogeneous cohort.

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