Abstract
Background & Objective:Polycystic Ovary Syndrome (PCOS) is the major cause of infertility in females. PCOS is a complex and multifactorial disease, genetic and environmental factors being important predisposing factors. Diagnosis of PCOS is difficult due to the complexity of this disease; hence, better diagnostic tests are required to improve its management. Aim of the study was to elucidate the genetic causes of PCOS in three Pakistani families.Methods:Three Pakistani families segregating PCOS in an apparently autosomal recessive mode were recruited. Whole genome Single Nucleotide Polymorphism (SNP) genotyping and Whole Exome Sequencing (WES) were carried out to identify the candidate genes.Results:SNP genotypes data analyses identified multiple regions of homozygosity on different chromosomes. WES was performed in affected members of the family. Screening for pathogenic mutations in homozygous regions failed to detect any mutation/variant of interest.Conclusion:PCOS is multifactorial and complex disease so variants in the coding as well as in non-coding regions may be the genetic causes of the disease. To elucidate the genetic cause(s) of the PCOS, Whole Genome Sequencing (WGS) is recommended to cover both coding and non-coding regions of the genome.
Highlights
Polycystic Ovary Syndrome (PCOS) is a major cause of infertility affecting 6-10% of the female population.[1]
Few Genome-Wide Association Study (GWAS) in PCOS patients have been performed to date.[16,17]
Difficulties in recruiting larger families from advanced countries and lack of advance genetic screening in Pakistan enabled us to design the present study to find out possible genetic cause(s) of PCOS in Pakistani families using Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES)
Summary
Polycystic Ovary Syndrome (PCOS) is a major cause of infertility affecting 6-10% of the female population.[1]. These two factors, LH and estradiol, are significantly altered in PCOS patients.[8,9,10,11]. Diagnosis of PCOS is difficult because of the different diagnostic parameters Some of these parameters may be altered while other remain normal. Few GWAS in PCOS patients have been performed to date.[16,17] The first locus identified through GWAS is on chromosome 2p16.3 This locus contains two candidate genes including testis specific gene GTF2A1L and LH receptor encoding gene LHCGR. LHCGR gene plays a critical role in ovulation and pregnancy maintenance Another locus was identified through GWAS on chromosome 9q33.3. Difficulties in recruiting larger families from advanced countries and lack of advance genetic screening in Pakistan enabled us to design the present study to find out possible genetic cause(s) of PCOS in Pakistani families using WGS and WES
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