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BioMed research international
2019;2019 6235680.

Association of Kiss1 and GPR54 Gene Polymorphisms with Polycystic Ovary Syndrome among Sri Lankan Women.

Umayal Branavan, Kajan Muneeswaran, W S S Wijesundera, Anoma Senanayake, N Vishvanath Chandrasekharan, Chandrika N Wijeyaratne
Author Information
  1. Umayal Branavan: Department of Obstetrics and Gynecology, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
  2. Kajan Muneeswaran: Department of Chemistry, Faculty of Science, University of Colombo, Colombo, Sri Lanka.
  3. W S S Wijesundera: Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
  4. Anoma Senanayake: De Soysa Maternity Hospital, Colombo, Sri Lanka.
  5. N Vishvanath Chandrasekharan: Department of Chemistry, Faculty of Science, University of Colombo, Colombo, Sri Lanka.
  6. Chandrika N Wijeyaratne: Department of Obstetrics and Gynecology, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. ORCID
PMID: 30993114 DOI: 10.1155/2019/6235680

Abstract

Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder affecting women of reproductive age. Its aetiology, though yet unclear, is presumed to have an oligogenic basis interacting with environmental factors. Kisspeptins are peptide products of Kiss1 gene that control the hypothalamic pituitary (HPG) axis by acting via G protein-coupled receptor known as GPR54. There is paucity of data on the role of Kiss1 and GPR54 gene in PCOS. We aimed to identify the polymorphisms in Kiss1 and GPR54 genes and explore their association with serum kisspeptin levels among Sri Lankan women with well-characterized PCOS. Consecutive women with PCOS manifesting from adolescence (n=55) and adult controls (n=110) were recruited. Serum kisspeptin and testosterone levels were determined by ELISA method. Whole gene sequencing was performed to identify the polymorphisms in Kiss1 and GPR54 genes. Serum kisspeptin and testosterone concentrations were significantly higher in women with PCOS than controls: kisspeptin 4.873nmol/L versus 4.127nmol/L; testosterone 4.713nmol/L versus 3.415 nmol/L, p<0.05. Sequencing the GPR54 gene revealed 5 single nucleotide polymorphisms (SNPs), rs10407968, rs1250729403, rs350131, chr19:918686, and chr19:918735, with two novel SNPs (chr19:918686 and chr19:918735), while sequencing the Kiss1 gene revealed 2 SNPs, rs5780218 and rs4889. All identified SNPs showed no significant difference in frequency between patients and controls. GPR54 gene rs350131 polymorphism (G/T) was detected more frequently in our study population. The heterozygous allele (AG) of GPR54 gene novel polymorphism chr19:918686 showed a marginal association with serum kisspeptin levels (p=0.053). Genetic variations in GPR54 and Kiss1 genes are unlikely to be associated with PCOS among Sri Lankan women manifesting from adolescence. Meanwhile the heterozygous allele of chr19:918686 is probably associated with serum kisspeptin concentrations, which suggests a potential role in the aetiology of PCOS.

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MeSH Term

Adolescent
Adult
Alleles
Child
Female
Heterozygote
Humans
Kisspeptins
Polycystic Ovary Syndrome
Polymorphism, Single Nucleotide
Receptors, Kisspeptin-1
Sri Lanka

Chemicals

KISS1 protein, human
KISS1R protein, human
Kisspeptins
Receptors, Kisspeptin-1
Clinical Trial Journal Article

Word Cloud

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