Author/Editor     Skrgatić, Lana; Pavičić Baldani, Dinka; Geršak, Ksenija; Černe, Jasmina Živa; Ferk, Polonca; Čorić, Mario
Title     Genetic polymorphisms of INS, INSR and IRS-1 genes are not associated with polycistic ovary syndrome in Croatian women
Translated title     Polimorfizmi gena za INS, INSR i IRS-1 nisu povezani sa sindromom policističnih jajnika u hrvatskoj populaciji PCOS bolesnica
Type     članek
Vol. and No.     Letnik 37, št. 1
Publication year     2013
Volume     str. 141-146
ISSN     1848-9486 - Collegium antropologicum
Language     eng
Abstract     Obesity and insulin resistance is a common finding in patients with polycysticovary syndrome (PCOS). Significant number of PCOS women experience insulin resistance that is irrespective of the degree of obesity suggesting possible genetic basis. Therefore, several polymorphisms of the genes encodingfor the insulin (INS), insulin receptor (INSR) or insulin receptor substrates (IRS) involved in postreceptor signaling have been explored for their association with abnormal sensitivity to insulin in PCOS. The aim of thepresent study was to determine whether selected polymorphisms of INS, INSR and IRS-1 are associated with the development of PCOS as well as with increased insulin resistance in Croatian women with PCOS. The study enrolled 150 women with PCOS and 175 control women. The diagnosis of PCOS was based on Rotterdam consensus criteria. Each subject underwent an evaluation of body mass index (BMI), hirsutism, acne and menstrual cycle abnormalities as well asfollicular stimulating hormone (FSH), luteinizing hormone (LH), total and free testosterone, androstendione, dehydroepiandrosterone sulphate (DHEAS), sex hormone binding globulin (SHBG), fasting glucose and fasting insulin. Insulin resistance (IR) was quantified using the homeostatic model assessment of IR (HOMA-IR). Molecular analyses for the genetic polymorphisms were preformed. There was a significant difference in clinical and biochemical characteristics of the studied groups except for BMI and fasting glucose levels. No significant differences were observed in the genotype and allele distribution of the VNTR INS, C/T INSR, Gly792Arg IRS-1 polymorphisms between cases and controls. Moreover, no association was found between VNTR INS, C/T INSR and Gly792Arg IRS-1 polymorphism and parameters of insulin resistance in PCOS patients. In conclusion, our data does not support an association betweenVNTR INS, C/T INSR and Gly792Arg IRS-1 polymorphism and susceptibility to PCOS or insulin resistance in Croatian women with PCOS.
Keywords     polycistic ovary syndrome
VNTR INS
C/T INSR
Gly792Arg IRS-1
insulin resistance