Research Article
Clinical Manifestations of Hyperandrogenism and Ovulatory
Dysfunction Are Not Associated with His1058 C/T SNP
(rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine
Kinase Domain in Kashmiri Women with PCOS
Shayaq Ul Abeer Rasool ,
1
Sairish Ashraf ,
2
Mudasar Nabi ,
2
Shariq R. Masoodi ,
3
Khalid M. Fazili ,
1
and Shajrul Amin
2
1
Department of Biotechnology, University of Kashmir, Srinagar, India
2
Department of Biochemistry, University of Kashmir, Srinagar, India
3
Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India
Correspondence should be addressed to Shajrul Amin; shajrulamin@uok.edu.in
Received 11 July 2021; Accepted 15 November 2021; Published 6 December 2021
Academic Editor: Ma gorzata Kotula Balak
Copyright©2021ShayaqUlAbeerRasooletal.isisanopenaccessarticledistributedundertheCreativeCommonsAttribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is
properly cited.
Background. Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder affecting premenopausal
women. Besides primary features like anovulation, hyperandrogenism, and polycystic ovaries, women with PCOS present with
multiple metabolic, cardiovascular, and psychological disorders. e etiology is multifactorial and the different genetic variants
are suggested to play an important role in pathogenesis. Insulin resistance is a ubiquitous finding in PCOS and SNPs in genes
involved in the insulin signaling pathway are possible candidates that can explain the development of clinical manifestations of
PCOS. Aim. We aimed to investigate the association of INSR His1058 C/T (rs1799817) single nucleotide polymorphism with
PCOS in Kashmiri women. e genotypic-phenotypic correlation of the tested SNP with hyperandrogenism, ovulatory dys-
function, and metabolic markers was evaluated. Results. e allele frequency (OR � 1.00, 95% CI � 0.67–1.48, χ
2
� 0.01, P � 0.99)
and genotype distribution (χ
2
� 3.73, P � 0.15) in INSR C/T polymorphism were comparable with controls. No significant
association was found with PCOS in dominant (P � 0.194), recessive (P � 0.442), and homo vs. het. (P � 0.5) genotype models.
Genotype-phenotype correlation analysis revealed that variant TT genotype had significantly higher HOMA (P � 0.029) and
reduced insulin sensitivity QUICKI (P � 0.037) values. ere was no significant variation in the prevalence of hirsutism, acne,
alopecia, menstrual disturbances, acanthosis nigricans, and obesity (all P > 0.05) in different INSR C/Tgenotypes. Conclusion.e
INSR C/T SNP (rs1799817) does not increase the risk of PCOS in Kashmiri women. is SNP is unlikely to play a significant role
in the development and manifestation of clinical symptoms of polycystic ovary syndrome.
1. Introduction
PCOS, a multidimensional disorder, affects reproductive,
endocrine, metabolic, cardiovascular, and psychological
health of affected women [1]. It is manifested as a spectrum
of symptoms including oligomenorrhea, hirsutism, infer-
tility, acne, and obesity [2]. e etiology is considered
polygenic and multifactorial, and family-based studies
suggest a strong genetic component [3, 4]. e genetic
variants have been extensively investigated to understand
their contribution in predisposing women to PCOS [5, 6].
e insulin resistance and hyperinsulinemia, commonly
found in 40–80% PCOS women, are suggested to play
important role in metabolic and reproductive disturbances
in women with PCOS [7]. e subnormal response to insulin
indicates defects in insulin receptor or postreceptor sig-
naling may be involved in pathogenesis of PCOS. In PCOS,
no change in the expression or affinity of INSR for insulin
Hindawi
International Journal of Endocrinology
Volume 2021, Article ID 7522487, 10 pages
https://doi.org/10.1155/2021/7522487