Variants of IL-1 beta gene and CD46 gene for diagnosing unexplained recurrent pregnancy loss

摘要

The discovery of an association between two variants of the human interleukin-1 gene (IL1B) beta promoter region and a variant of the CD46 gene intron 1 and T-helper type 1 immunity in unexplained recurrent pregnancy loss (URPL) is disclosed. These two IL1B variants are characterized by a base C at position-511 (IL1B-511C) and a base T at position-31 (IL1B-31T) from the transcriptional start site of the IL1B gene. The CD46 gene intron 1 variant is characterized by a change in the HindIII site in this intron. These IL1B promoter variants and CD46 gene intron 1 variants, and reagents for detecting said variants, are useful as diagnostic markers for the diagnosis and management of recurrent pregnancy loss. Accordingly, the invention provides methods and compositions which identify these variants for determining a subject's propensity for having reproductive failure and, particularly, reproductive failure attributed to Th1 cytokines.