The BAIAP2L1 gene variant as a risk factor for the development of genital endometriosis in combination with endometrial hyperplasia

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Abstract

Objective: To investigate the association between single nucleotide variants (SNVs) and the occurrence of genital endometriosis combined with endometrial hyperplasia in the Russian population in the following genes: NC_000017.11 (SHBG): g.7618597G>T (rs12150660), NC_000001.11 (PRMT6):g.107003753A>G (rs17496332), NC_000007.14 (BAIAP2L1):g.98364050T>A (rs3779195), NC_000012.12 (SLCO1B1):g.21178615T>C (rs4149056) and NC_000015.10 (NR2F2):g.96165062T>C (rs8023580).

Materials and methods: GWAS-significant single nucleotide variants (SNVs) associated with sex hormone-binding globulin (SHBG) levels were genotyped in 286 patients with genital endometriosis, including 183 patients with both genital endometriosis and endometrial hyperplasia and 103 patients with isolated genital endometriosis (control group). Logistic regression was used to assess the association between GWAS-significant SNVs linked to SHBG levels and the development of genital endometriosis in combination with endometrial hyperplasia. Allelic, additive, recessive, and dominant models were applied using the gPLINK software.

Results: The A allele of the BAIAP2L1 (rs3779195) gene was identified as a risk factor for the development of endometriosis in combination with endometrial hyperplasia (OR = 2.85; 95% CI 1.36–5.97; рperm = 0.006 for the additive model; OR = 1.91; 95% CI 1.15–3.17; рperm = 0.014 for the allelic model; OR = 2.72; 95% CI 1.26–5.88; рperm = 0.012 for the dominant model). The rs3779195 locus is located in the intronic region of the BAIAP2L1 gene, characterizes DNA interaction with the Foxp1 transcription factor, and is in linkage disequilibrium with 20 SNV, four of which (rs6950023, rs6967728, rs77032872, and rs3779196) exhibit significant regulatory potential.

Conclusion: The A allele of BAIAP2L1 (rs3779195) is associated with an increased risk of genital endometriosis in combination with endometrial hyperplasia.

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About the authors

Tatyana A. Ponomareva

Belgorod State National Research University; Saint Ioasaph Belgorod Regional Clinical Hospital

Author for correspondence.
Email: rybaarbusova@icloud.com
ORCID iD: 0009-0007-8533-9319

PhD Student at the Department of Medical and Biological Disciplines; Obstetrician-Gynecologist

Russian Federation, 85, Pobeda St., Belgorod, 308015; 8/9, Nekrasov St., Belgorod, 308007

Oksana B. Altukhova

Belgorod State National Research University; Saint Ioasaph Belgorod Regional Clinical Hospital

Email: altuhova_o@bsuedu.ru
ORCID iD: 0000-0003-4674-8797

Dr. Med. Sci., Associate Professor, Head of the Department of Obstetrics and Gynecology; Head of the Gynecological Department

Russian Federation, 85, Pobeda St., Belgorod, 308015; 8/9, Nekrasov St., Belgorod, 308007

Irina V. Ponomarenko

Belgorod State National Research University

Email: ponomarenko_i@bsuedu.ru
ORCID iD: 0000-0002-5652-0166

Dr. Med. Sci., Associate Professor at the Department of Medical and Biological Disciplines

Russian Federation, 85, Pobeda St., Belgorod, 308015

Mikhail I. Churnosov

Belgorod State National Research University

Email: churnosov@bsuedu.ru
ORCID iD: 0000-0003-1254-6134

Dr. Med. Sci., Professor, Head of the Department of Medical and Biological Disciplines

Russian Federation, 85, Pobeda St., Belgorod, 308015

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