Abstract
Host immunogenetic factors can affect late complications of urogenital infections with Chlamydia trachomatis. These findings are creating new avenues for updating existing risk prediction models for C. trachomatis-associated tubal factor infertility (TFI). Research into host factors and its utilization may therefore have future implications for diagnosing C. trachomatis-induced infertility. We outline the epidemiological situation regarding C. trachomatis and TFI in high-income countries. Thereupon, we review the main characteristics of the population undergoing fertility work-up and identify screening and diagnostic strategies for TFI currently in place. The Netherlands is an exemplary model for the state of the art in high-income countries. Within the framework of existing clinical approaches, we propose a scenario for the translation of relevant genome-based information into triage of infertile women, with the objective of implementing genetic profiling in the routine investigation of TFI. Furthermore, we describe the state of the art in relevant gene- and single nucleotide polymorphism (SNP) based clinical prediction models and place our perspectives in the context of these applications. We conclude that the introduction of a genetic test of proven validity into the assessment of TFI should help reduce patient burden from invasive and costly examinations by achieving a more precise risk stratification.
Highlights
Worldwide, 10–15% of couples trying to conceive suffer from infertility [1,2]
These genetic variants, or single nucleotide polymorphisms (SNPs), reside in genes coding for various immune response functions [12]
Laparoscopy is considered the reference standard in the assessment of tubal function. It is an invasive procedure associated with discomfort for the patient, it has to be performed under general anesthesia, and it is associated with potential surgical complications, a post-surgical recovery period and high costs [51]
Summary
10–15% of couples trying to conceive suffer from infertility [1,2]. In 11–30% of these couples, infertility is related to tubal pathology [1]. Chlamydia trachomatis urogenital infection ( in the text referred to as Chlamydial infection) is one of the most common causes of damage to the fallopian tubes and subsequent tubal factor infertility (TFI). Chlamydia infection outcomes [12,13,14,15,16,17,18] These genetic variants, or single nucleotide polymorphisms (SNPs), reside in genes coding for various immune response functions [12]. New insights from research on host immunogenetic factors may have implications for diagnosing Chlamydia-induced infertility, given the fact that the analysis of pertinent SNP-based variants has the potential to improve the accuracy of estimating the risk of TFI. Considering that genetic factors contribute with as much as 39% to the immune response variation in Chlamydial infections (findings based on twin studies of ocular infection [19]), there is a strong argument to be made in favor of including genome-based patient data in clinical assessments of related sequelae
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