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Genotyping Sri Lankan women with polycystic ovary syndrome (PCOS): towards a novel screening tool

Authors:

Umayal Branavan ,

University of Colombo, LK
About Umayal
Department of Obstetrics and Gynaecology, Faculty of Medicine
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Kajan Muneeswaran,

University of Colombo, LK
About Kajan
Department of Chemistry, Faculty of Science
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Sulochana Wijesundera,

University of Colombo, LK
About Sulochana
Department of Biochemistry and Molecular Biology, Faculty of Medicine
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Naduviladath Vishvanath Chandrasekharan,

University of Colombo, LK
About Naduviladath
Department of Chemistry, Faculty of Science
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Chandrika Wijeyaratne

University of Colombo, LK
About Chandrika
Department of Obstetrics and Gynaecology, Faculty of Medicine
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Abstract

Introduction: Polycystic ovary syndrome (PCOS) is the multigenic, endocrine disorder of young women. Inheritance of PCOS is likely to be oligogenic and genetic basis remains largely unknown. Screening the candidate genes of PCOS and their SNPs individually is time consuming. Hence, developing a tool that would help in screening multiple candidate genes simultaneously is essential to determine the exact genetic basis of PCOS.


Objectives: This study aimed to develop a simple and cost-effective genetic screening tool to simultaneously genotype 16 single nucleotide polymorphisms (SNPs) of PCOS.


Methods: The genetic screening tool was developed using allele specific real time quantitative PCR (AS-qPCR) in 96 well PCR plate. Eight SNPs identified in our previous study as well as 8 SNPs identified from other reported studies that had a strong association in the etiology of PCOS were used to develop the tool. Samples from our previous study were reanalyzed using the developed genetic screening tool. Genetic screening tool results were validated with Sanger sequencing.


Results: Totally 10 AS-qPCR runs (160 reactions = 16SNPs*10runs) were performed using the developed tool and all except 3 genotype results agreed with Sanger sequencing.  The tool showed 100% specificity and 96% sensitivity.


Conclusion: The developed genetic screening tool has excellent potential in determining the genotype of multiple SNPs of PCOS simultaneously. This tool is highly suitable for developing countries as a cost effective and accurate early genetic screening test for PCOS. Thus, provides a reliable, fast and user-friendly genotyping method facilitating a wider implication in clinical practice.

DOI: https://doi.org/10.4038/cmj.v66i3.9491
How to Cite: Branavan, U., Muneeswaran, K., Wijesundera, S., Chandrasekharan, N.V. and Wijeyaratne, C., 2021. Genotyping Sri Lankan women with polycystic ovary syndrome (PCOS): towards a novel screening tool. Ceylon Medical Journal, 66(3), pp.129–137. DOI: http://doi.org/10.4038/cmj.v66i3.9491
Published on 27 Dec 2021.
Peer Reviewed

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