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SIRT1 Gene Single Nucleotide Polymorphisms and Female Infertility: A Cross Sectional Study In Pakistan
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  • Faiza Alam,
  • Rehana Rehman,
  • Syeda Sadia Fatima,
  • Mussarat Ashraf,
  • Taseer Ahmed Khan
Faiza Alam
University of Karachi
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Rehana Rehman
Aga Khan University
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Syeda Sadia Fatima
Aga Khan University
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Mussarat Ashraf
Aga Khan University
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Taseer Ahmed Khan
University of Karachi
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Abstract

Aim & Objective: Silent information Regulators (SIRT1) gene stimulates the expression of antioxidants and repairs damaged cells. It affects the mitochondrial activity within the oocytes to overcome the oxidant stress. We aimed to assess an association of SIRT1 polymorphism (Tag SNPs rs10509291 and rs12778366) with fertility, and assess serum levels of follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol, progesterone, manganese superoxide (MnSOD) and SIRT1. Material and Methods: In this cross-sectional study, 207 fertile and 135 infertile subjects between the ages of 18-45 year were recruited. Polymerase chain reaction (PCR) was performed; products were electrophoresed in a 2% agarose gel. Descriptive analysis of continuous variables was expressed as mean ± standard deviation. Mann-Whitney test was performed for comparison of groups, p value <0.001 was considered significant. Single Nucleotide Polymorphism (SNP) data was analyzed by applying chi-squared statistics. Results: All subjects were age matched (p = 0.896). SIRT1 levels were significantly lower in infertile females when compared with fertile subjects (p<0.001). AA (rs10509291) and CC (rs12778366) variant frequency was higher in the infertile than fertile subjects (p<0.01). Similarly, the frequency of A allele (rs10509291) and C allele (rs12778366) was higher in infertile subjects (p<0.001). Infertile females (29%) showed existence of SNP rs10509291 while 49% demonstrated genetic variation of rs12778366. MnSOD and SIRT1 levels were found to be lower in these subjects. Conclusion: Presence of SIRT1 genetic variants (rs10509291 and rs12778366) apparently disturbs the expression of SIRT1 deteriorating mitochondrial antioxidant function within the oocytes, instigating oxidative stress within. Their probable effect on modulating oocyte maturation may be the cause of infertility in females.

Peer review status:ACCEPTED

27 Apr 2020Submitted to International Journal of Clinical Practice
04 May 2020Submission Checks Completed
04 May 2020Assigned to Editor
26 Aug 2020Reviewer(s) Assigned
05 Oct 2020Review(s) Completed, Editorial Evaluation Pending
21 Nov 20201st Revision Received
21 Nov 2020Submission Checks Completed
21 Nov 2020Assigned to Editor
21 Nov 2020Reviewer(s) Assigned
03 Dec 2020Review(s) Completed, Editorial Evaluation Pending
09 Dec 20202nd Revision Received
10 Dec 2020Submission Checks Completed
10 Dec 2020Assigned to Editor
10 Dec 2020Reviewer(s) Assigned
18 Jan 2021Review(s) Completed, Editorial Evaluation Pending
28 Jan 20213rd Revision Received
28 Jan 2021Submission Checks Completed
28 Jan 2021Assigned to Editor
27 Feb 2021Review(s) Completed, Editorial Evaluation Pending
02 Mar 2021Editorial Decision: Accept