title: Single-Nucleotide Polymorphism on Exon 17 of Insulin Receptor Gene Influences Insulin Resistance in PCOS: A Pilot Study on North Indian Women.
abstract: Polycystic ovarian syndrome (PCOS), a major cause of infertility, is also strongly associated with insulin resistance. Defects in insulin receptor signaling are considered as one of the major molecular pathogeneses for insulin resistance. To investigate the possible mechanism of this signaling defect at genetic level, single-nucleotide polymorphism (SNP) [His 1085 C/T] at the exon 17 of insulin receptor gene (INSR) was studied in this pilot study. Polymerase chain reaction was performed on leucocytic DNA of women diagnosed with PCOS, selected from the outpatient department of Safdarjung Hospital, New Delhi, using suitable primer to amplify a region on INSR. An equal number of age-matched healthy women were selected as controls. SNP analysis was performed with restriction enzyme length polymorphism technique using Pm II enzyme. Serum insulin level was measured by ELISA kit and HOMA-IR was calculated mathematically. A higher frequency of the CC genotype was observed in PCOS women than in controls. Also, HOMA-IR, a tool for estimating insulin resistance, was significantly high in PCOS women with the CC genotype. C1008T SNP at exon 17 of INSR is associated with insulin resistance in Indian women with PCOS. Presence of CC genotype (C1085T) could be developed as a marker for insulin resistance and metabolic complications in PCOS women.
authors.affiliation: Department of Biochemistry, Subharti Medical College, Meerut, U.P., India.
authors.forename: Sukanya
authors.initials: S
authors.lastname: Gangopadhyay
authors.affiliation: Department of Biochemistry, Vardhaman Mahavir Medical College, New Delhi, India.
authors.forename: Nitin
authors.initials: N
authors.lastname: Agrawal
authors.affiliation: Department of Gynecology, Vardhaman Mahavir Medical College, New Delhi, India.
authors.forename: Aruna
authors.initials: A
authors.lastname: Batra
authors.affiliation: Department of Biochemistry, Vardhaman Mahavir Medical College, New Delhi, India.
authors.forename: Bhaskar Charan
authors.initials: BC
authors.lastname: Kabi
authors.affiliation: Department of Biochemistry, Subharti Medical College, Meerut, U.P., India. akash_inspace@yahoo.com.
authors.forename: Akash
authors.initials: A
authors.lastname: Gupta
mesh_terms: D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D007328:Insulin / Q000097:blood; D007333:Insulin Resistance / Q000235:genetics*; D010865:Pilot Projects; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011972:Receptor, Insulin / Q000235:genetics*; D055815:Young Adult
chemical_list: D015703:Antigens, CD; D007328:Insulin; C435941:INSR protein, human; D011972:Receptor, Insulin
keywords: HOMA-IR; Insulin receptor gene; Polycystic ovarian syndrome; Single-nucleotide polymorphism