A Case-control Study on the Association of Mitochondrial Transcription Factor a Gene +35G/C Polymorphism and Mitochondrial DNA Copy Number with the Risk of Endometriosis in Indian Women
Himabindu Beeram
Department of Biochemistry, Osmania University, Hyderabad, India.
Tumu Venkat Reddy
Infertility Institute and Research Centre (IIRC), Secundrabad, India.
Suresh Govatati
Department of Biochemistry, Osmania University, Hyderabad, India.
Swapna Siddamalla
Department of Biochemistry, Osmania University, Hyderabad, India.
Mamata Deenadayal
Infertility Institute and Research Centre (IIRC), Secundrabad, India.
Sisinthy Shivaji
Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India and Brien Holden Eye Research Centre, L V Prasad Eye Institute, Hyderabad, India.
Manjula Bhanoori *
Department of Biochemistry, Osmania University, Hyderabad, India.
*Author to whom correspondence should be addressed.
Abstract
Aim: The Mitochondrial transcription factor A (TFAM) and mitochondrial (mt) DNA copy number variations are known to contribute in disease development. Genetic factors play an important role in the development of endometriosis. Therefore, this case–control study aimed to analyze the association of TFAM+35G/C polymorphism and mitochondrial copy number with the risk of endometriosis in Indian women.
Study Design: This study was carried out on 418 subjects including 200 endometriosis cases and 218 controls.
Methodology: Genotyping of TFAM +35G/C polymorphism (rs1937) was carried out by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Quantification of mtDNA copy number was carried out using a real time quantitative polymerase chain reaction (qRT-PCR).
Place and Duration of Study: Department of Biochemistry, Osmania University, 2014 to 2020.
Results: TFAM genotype as well as allele distributions were all in Hardy-Weinberg equilibrium. The results indicated a significant reduction of GG genotype frequency (P=0.009), high ‘C’ allele frequency (P=0.017) and significantly decreased mtDNA copy number in endometriosis cases compared to controls (P= 0.0001).
Conclusion: Present study revealed a statistically significant association of decreased GG genotype of TFAM +35G/C polymorphism and mtDNA copy number with the risk of developing endometriosis in Indian women.
Keywords: Endometriosis, TFAM, mitochondrial copy number, Indian women