Association of the BAIAP2L1 gene polymorphism with the risk of developing genital endometriosis in combination with uterine fibroids and endometrial hyperplasia

T. A. Ponomareva, O. B. Altukhova, Irina Ponomarenko, Mikhail Churnosov
In: Russian Bulletin of Obstetrician-Gynecologist · 2025 · vol. 25(6) , pp. 5 · doi:10.17116/rosakush2025250615 · W4416917431
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⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

The BAIAP2L1 gene's rs3779195 polymorphism increases genital endometriosis risk with uterine fibroids and hyperplasia by affecting transcription factor binding and gene splicing.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-09 ⓘ

The study investigated associations between four SNPs linked to sex hormone–binding globulin (SHBG) biology and the risk of developing genital endometriosis specifically in combination with uterine fibroids and endometrial hyperplasia. Researchers compared 98 women with morphologically confirmed endometriosis plus fibroids and endometrial hyperplasia to 103 women with isolated genital endometriosis, genotyping rs3779195 (BAIAP2L1) and three additional loci (rs12150660 SHBG, rs1749332 PRMT6, rs4149056 SLCO1B1) and analyzing associations with logistic regression adjusted for age and BMI, including permutation-based correction for multiple testing. They found that rs3779195 (T>A) BAIAP2L1 was associated with higher risk across allele, additive, and dominant genetic models (e.g., allele model OR 2.09, p=0.008; permutation p=0.009), while the other three loci showed no statistically significant associations. A key caveat is the relatively small, region- and ancestry-restricted sample (Russian women from Central Chernozem, nonrelated), which limits generalizability. This paper is centrally about endometriosis — specifically the association of BAIAP2L1 rs3779195 with genital endometriosis occurring together with uterine fibroids and endometrial hyperplasia.

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Abstract

Objective. The study of the involvement of GWAS-significant (GWAS — Genome-Wide Association Study) is a genome—wide study of the links between single-nucleotide polymorphisms and human diseases; a method for identifying genetic variants associated with detectable traits or diseases by comparing the genomes of a large number of people, polymorphic loci associated with the level of sex hormone binding globulin (SHBG), in the development of genital endometriosis combined with uterine fibroids and endometrial hyperplasia. Material and methods. A comparative genetic analysis was performed on a sample of 98 patients with genital endometriosis combined with uterine fibroids and endometrial hyperplasia and 103 patients with isolated genital endometriosis (comparison group). Molecular genetic testing of four GWAS-significant polymorphic loci associated with SHBG levels (rs12150660 SHBG, rs1749332 PRMT6, rs3779195 BAIAP2L1, rs4149056 SLCO1B1) was performed. The associations of these polymorphisms with the risk of developing genital endometriosis in combination with uterine fibroids and endometrial hyperplasia, as well as the functional effects of SNPs (single nucleotide polymorphisms), were evaluated using the online resources HaploReg and Gtex Portal. Results. Allele variant A rs3779195 BAIAP2L1 increases the risk of developing genital endometriosis in combination with uterine fibroids and endometrial hyperplasia (odds ratio 2.09-2.85). The rs3779195 polymorphic locus of BAIAP2L1 determines the character of DNA interaction with the Foxp1 transcription factor, is associated with the transcription level of 5 genes (BAIAP2L1, BRI3, LMTK2, RP11-307C18.1, TECPR1), affects the splicing (excision of RNA regions) of 2 genes (BAIAP2L1, BRI3) in various organs and tissues, pathogenetically significant for endometriosis and other proliferative diseases of the uterus. Conclusion. Polymorphic locus rs3779195 of the BAIAP2L1 gene is associated with the risk of developing genital endometriosis in combination with uterine fibroids and endometrial hyperplasia.

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endometriosis

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