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. 2022 Jan;49(1):321-329.
doi: 10.1007/s11033-021-06877-x. Epub 2021 Oct 25.

DNMT1 and DNMT3B gene variants and their association with endometriosis in South Indian women

K V Veena  1 , Swapna Siddamalla  1 , Mamata Deenadayal  2 , Sisinthy Shivaji  3   4 , Manjula Bhanoori  5
Affiliations

DNMT1 and DNMT3B gene variants and their association with endometriosis in South Indian women

K V Veena et al. Mol Biol Rep. 2022 Jan.

Abstract

Background: Endometriosis is a multifactorial estrogen dependent gynecological disease characterized by implantation of functional endometrial tissue at ectopic positions. Though this disease is benign, it is associated with an increased risk of malignant transformation. Epigenetic disruptions like aberrant DNA methylation, resulting changes in gene expression capacity, are important in tumor progression and malignant cellular transformation. Therefore, variation in genes involved in DNA methylation might lead to disease susceptibility.

Purpose: To investigate the association between DNA methyl transferases (DNMT1 and DNMT3B) single nucleotide polymorphisms (SNPs) and the risk of endometriosis in South Indian women.

Methods: In the present study, we examined the genotypic and allele distribution of DNMT1 (rs10423341C/A, rs2228611G/Aandrs4804490C/A) and DNMT3B (rs1569686G/T) among the endometriosis patients (n = 150) and controls (n = 150). The genotypes were analyzed by polymerase chain reaction (PCR) and sequencing methods. Haplotype frequencies for multiple loci and the standardized disequilibrium coefficient (D') for pairwise linkage disequilibrium (LD) were surveyed by Haploview Software.

Result: Significant increase in the frequencies of DNMT1 rs10423341 (P = 0.04601), rs2228611 (P = 0.00175) and DNMT3B rs1569686 (P = 0.033) genotypes and alleles was observed in patients compared to controls. In addition, the frequency of A/A/C (P = 0.0065) haplotype was significantly high in patients. But the DNMT1 (rs4804490) SNP did not show significant association with the disease.

Conclusion: The DNMT1 and DNMT3B polymorphism may constitute an inheritable risk factor for endometriosis in South Indian women. To the best of our knowledge there is no reported study on the association of polymorphisms in DNMT1 and DNMT3B with endometriosis risk.

Keywords: Endometriosis; Epigenetic genes; Haplotype analysis; Polymorphisms; South Indian women.

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References

    1. Zondervan KT, Becker CM, Koga K, Missmer SA, Taylor RN, Viganò P (2018) Endometriosis Nat Rev Dis Primers 4(1):9 - PubMed
    1. Parasar P, Ozcan P, Terry KL (2017) Endometriosis: Epidemiology, diagnosis and clinical management. Curr Obstet Gynecol Rep 6(1):34–41 - PubMed - PMC
    1. Sachedina A, Todd N (2020) Dysmenorrhea, endometriosis and chronic pelvic pain in adolescents. J Clin Res Pediatr Endocrinol 12(Suppl 1):7–17 - PubMed
    1. Sampson JA (1927) Peritoneal endometriosis due to the menstrual dissemination of endometrial tissue into the peritoneal cavity. Am J Obstet Gynecol 14(4):422–469
    1. Bhanoori M, Deenadayal M, Kennedy S, Shivaji S (2007) The G2964A 3’-untranslated region polymorphism of the signal transducer and activator of transcription 6 gene is associated with endometriosis in South Indian women. Hum Reprod 22(4):1026–1030 - PubMed

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