The Potential Role for Host Genetic Profiling in Screening for Chlamydia-Associated Tubal Factor Infertility (TFI)—New Perspectives

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.

Controversies and evidence on Chlamydia testing and treatment in asymptomatic women and men who have sex with men: a narrative review

“…In current care, this is complicated because diagnostic tools other than NAAT are unavailable to identify the most ‘infectious’ and ‘pathogenic’ CT, but viability diagnostics may help in the future. To identify those at highest risk of CT, a clear set of risk factors should be used, including PID biomarkers or host immunogenetic factors, which are explored as new avenues for updating existing prediction models for CT-related TFI, as described in narrative reviews [ 79 , 80 ]. However, these methods still require testing first.…”

Screening of Potential Key Genes Related to Tubal Factor Infertility Based on Competitive Endogenous RNA Network

“…Nowadays, TFI is a key issue for women's reproductive health worldwide (Letizia et al, 2016;Liu et al, 2020b), which accounts for one-third of female infertility, and the incidence rate is increasing in recent years (Yuan et al, 2020). However, the molecular biological mechanism of TFI is still unclear (Malogajski et al, 2019). Meanwhile, embryo implantation requires a precise synchronism between the receptive uterus (during the implantation window) and activated blastocyst (Abbas et al, 2020;Yang et al, 2020).…”

Role of TRAIL-R in Primary and Secondary Genital and Respiratory Chlamydia muridarum Infections in Mice

“…Factors known to affect the severity of an infection in humans, and in the mouse model, include the age of the individual, stage of the estrus cycle, bacterial load, and prior exposure to C. trachomatis ( 8 , 14 – 16 ). In addition, data suggest that the host genetic background affects susceptibility to infection and the intensity of the immune responses ( 17 ). For example, single nucleotide polymorphisms (SNPs) in TLR2 and TLR9 have been found to influence the outcomes of C. trachomatis genital infections ( 18 ).…”