Author/Editor		Ferk, Polonca; Čelhar, Teja; Geršak, Ksenija
Title		Genetika sindroma policističnih jajčnikov - vloga mikrosatelitskega polimorfizma (TAAAA)n v genu SHBG
Translated title		Genetics of polycystic ovary syndrome - a role of microsatelite polymorphism (TAAAA)n in the SHBG gene
Type		članek
Source		Farm Vestn
Vol. and No.		Letnik 58, št. 1
Publication year		2007
Volume		str. 21-8
Language		slv
Abstract		Polycystic ovary syndrome (PCOS) is a complex disease, with extremely heterogeneous clinical presentation and a possible genetic background. Hyperandrogenism is one of the key features in PCOS. Among numerous PCOS candidate genetic polymorphisms, the microsatellite polymorphism (TAAAA)n in the promoter of the SHBG gene has also been proposed. The SHBG gene encodes for specific sex hormone binding globulin (SHBG), which influences the proportion of bioavailable androgens, and the polymorphism regulates the SHBG gene's expression. In the present study on 118 PCOS women and 108 healthy volunteers, possible associations of the (TAAAA)n SHBG polymorphism with serum SHBG levels and with the development of PCOS were investigated. Both groups of patients differed significantly in their biochemical and clinical profiles. The polymorphism was ascertained to be a strong predictor for serum SHBG levels; longer alleles were associated with lower serum SHBG levels and thus with higher risks for hyperandrogenism in PCOS. Rather than the (TAAAA)n SHBG polymorphism as the only genetic susceptibility factor, a specific combination of several genetic polymorphisms modified by environmental factors might be involved in the development of the whole spectrum of PCOS clinical picture.
Summary		Povzetek Sindrom policističnih jajčnikov (PCOS) je kompleksna bolezen, z izrazito heterogeno klinično sliko in verjetnim genetskim ozadjem. Hiperandrogenizem je ena od ključnih fenotipskih značilnosti PCOS. Med številnimi doslej predlaganimi kandidatnimi genetskimi polimorfizmi za PCOS je tudi mikrosatelitski polimorfizem (TAAAA)n v promotorju gena SHBG. Gen SHBG nosi zapis za specifični vezavni globulin za spolne hormone (SHBG), kateri vpliva na delež biološko razpoložljivih androgenov, navedeni polimorfizem pa uravnava ekspresijo gena SHBG. V naši raziskavi na 118 bolnicah s PCOS in 108 zdravih prostovoljkah smo ugotavljali morebitno povezavo polimorfizma (TAAAA)n SHBG s serumskimi koncentracijami SHBG ter tako posredno s samim razvojem PCOS. Obe skupini preiskovank sta se značilno razlikovali po svojem biokemijskem in kliničnem profilu. Obravnavani polimorfizem se je izkazal za močan napovedni dejavnik serumskih koncentracij SHBG; daljši aleli so verjetno povezani z nižjimi serumskimi koncentracijami SHBG in s tem z večjim tveganjem za razvoj hiperandrogenizma pri PCOS. Polimorfizem (TAAAA)n SHBG pa najbrž ni edini genetski dejavnik tveganja za razvoj celotnega spektra klinične slike PCOS, temveč gre verjetno za vplivspecifične kombinacije več različnih genetskih polimorfizmov v povezavi z nekaterimi dejavniki iz okolja.