Genetic polymorphisms of INS, INSR and IRS-1 genes are not associated with polycystic ovary syndrome in Croatian women [Polimorfizmi gena za INS, INSR i IRS-1 nisu povezani sa sindromom policističnih jajnika u Hrvatskoj populaciji PCOS bolesnica]

Škrgatić, Lana and Pavičić Baldani, Dinka and Geršak, Ksenija and Černe, Jasmina Živa and Ferk, Polonca and Ćorić, Mario (2013) Genetic polymorphisms of INS, INSR and IRS-1 genes are not associated with polycystic ovary syndrome in Croatian women [Polimorfizmi gena za INS, INSR i IRS-1 nisu povezani sa sindromom policističnih jajnika u Hrvatskoj populaciji PCOS bolesnica]. Collegium Antropologicum, 37 (1). pp. 141-146. ISSN 0350-6134

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Abstract

Obesity and insulin resistance is a common finding in patients with polycystic ovary 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 encoding for 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 the present 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 as follicular 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 between VNTR INS, C/T INSR and Gly792Arg IRS-1 polymorphism and susceptibility to PCOS or insulin resistance in Croatian women with PCOS.

Abstract in Croatian

Povišena tjelesna težina i inzulinska rezistencija često su udruženi sa sindromom policističnih jajnika. Velik broj bolesnica s PCOS-om ima inzulinsku rezistenciju neovisno o povišenoj tjelesnoj težini što govori u prilog genskoj uvjetovanosti. Do sada je istraživana genska podloga u polimorfizmima gena koji kodiraju za inzulin (INS), inzulinski receptor (INSR), ali i gena za inzulinske receptorske supstrate (IRS) koji imaju ključnu ulogu u usmjeravanju postreceptorskog signala. Istraživana je njihova povezanost sa inzulinskom rezistencijom kod PCOS bolesnica. Cilj ovog istraživanja bio je istražiti povezanost genskih polimorfizama: VNTR INS, C/T INSR, Gly792Arg i IRS-1 sa nastankom PCOS-a te sa parametrima inzulinske rezistencije u hrvatskoj populaciji bolesnica s PCOS-om. U studiju smo uključili 150 PCOS bolesnica i 175 kontrola. Dijagnozu smo postavili na temelju konsenzusa u Rotterdamu. Svakoj ispitanici izmjeren je ITM, stupanj hirzutizma i akni te ocijenjen poremećaj ciklusa. Određene su serumske vrijednosti FSH, LH, ukupnog i slobodnog testosterona, DHEAS-a, androstendiona, SHBG-a te glukoze i inzulina na tašte. Inzulinska rezistencija izračunana je koristeći HOMA-IR (homeostatic model assessment of IR). Provedene su molekularne genske analize za određivanje genskih polimorfizama. Našli smo značajnu razliku u većini kliničkih i biokemijskih karakteristika između istraživanih skupina osim za ITM i glukoze na tašte. Nismo našli značajnu razliku u raspodjeli alela i genotipova polimorfizama VNTR INS, C/T INSR i Gly792Arg IRS-1 između istraživane i kontrolne skupine kao niti utjecaj navedenih polimorfizama na parametre inzulinske rezistencije u PCOS bolesnica. U zaključku, naši rezultati ne podupiru ranije opisanu povezanost VNTR INS, C/T INSR i Gly792Arg IRS-1 sa razvojem PCOS-a odnosno sa inzulinskom rezistencijom u Hrvatskoj populaciji bolesnica sa PCOS-om.

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