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The following is a summary of “Inherited infertility: Mapping loci associated with impaired female reproduction,” published in the November 2024 issue of Obstetrics & Gynecology by Ruotsalainen et al. 

Researchers conducted a retrospective study to explore genetic factors in female infertility and identified rare alleles and age-dependent mechanisms linked to reproduction. 

They performed a genome-wide association study (GWAS) with 22,849 infertile women and 198,989 controls from the Finnish FinnGen cohort. They conducted recessive and age-stratified analyses to identify genetic factors related to early and late-onset infertility. 

The results showed a low-frequency stop-gained mutation in TATA-box binding protein-like 2 (TBPL2; c.895A>T [p.Arg299Ter]; minor-allele frequency [MAF] = 1.2%) with an odds ratio (OR) of 650 (P = 4.1 × 10 ⁻²⁵ ). Women with 2 copies of this variant had significantly fewer offspring (0.16 vs. 1.75, P = 1.4 × 10 ⁻¹⁵ ), with all homozygous women requiring infertility therapy. About 3 additional loci were identified: 2 for early-onset infertility (CHEK2 and major histocompatibility complex (MHC) region) and 1 for late-onset infertility located in long non-coding RNA (lncRNA) gene. 

They highlighted rare recessive alleles and age-dependent mechanisms in female infertility. Their findings offered new insights into its genetic basis. 

Source: sciencedirect.com/science/article/pii/S0002929724003872