Collagen type I alpha 1 gene polymorphism in premature ovarian failure

Introduction. Premature ovarian failure (POF) is characterized by amenorrhea, hypergonadotropism and hypoestrogenism in women bellow 40 years. Osteoporosis is one of the late complications of POF. Objective. To correlate collagen type I alpha1 (COLIA1) gene polymorphism with bone mineral density (BMD) in women with POF. Methods. We determined the COLIA1 genotypes SS, Ss, ss in 66 women with POF. Single nucleotide polymorphism (G to T substitution) within the Sp 1-binding site in the first intron of the COLIA1 gene was assessed by polymerase chain reaction (PCR) followed by single-stranded conformation polymorphism (SSCP) analysis. Bone mineral density (BMD) was measured at the lumbar spine region by dual X-ray absorptiometry. Statistics: Kruskal-Wallis ANOVA, Chisquare test, Spearman correlation test. Results. The relative distribution of COLIA1 genotype alleles was SS - 54.4%, Ss - 41.0% and ss - 4.5%. No significant differences were found between genotype groups in body mass index, age, duration of amenorrhea or BMD. A significant positive correlation was observed between BMI and parity. Conclusion. The COLIA1 gene is just one of many genes influencing bone characteristics. It may act as a marker for differences in bone quantity and quality, bone fragility and accelerated bone loss in older women. However, in young women with POF, COLIA1 cannot identify those at higher risk for osteoporosis.Uvod. Prevremena insuficijencija jajnika (PIJ) se odlikuje amenorejom, hipergonadotropizmom i hipoestrogenijom kod žena mlađih od 40 godina. Osteoporoza je kasna komplikacija ovog stanja. Cilja rada. Cilj istraživanja je bio da se uporede genski polimorfizam kolagena tip I alfa 1 (COLIA1) sa gustinom koštane mase kod žena sa PIJ. Metode rada. Određivan je COLIA1 genotip SS, Ss i ss kod 66 žena sa PIJ pomoću eseja za reakciju lančanog umnožavanja DNK (engl. polymerase chain reaction - PCR). Polimorfizam jednog nukleotida (zamena G u T) u okviru Sp1 vezujućeg mesta u prvom intronu gena COLIA1 određivan je primenom PCR, nakon čega se pristupilo analizi konformacionog polimorfizma. Gustina koštane mase je merena na nivou lumbalnog dela kičme pomoću apsorpciometrije. Hormonske analize za folikulostimulišući hormon, luteinizirajući hormon, estradiol, prolaktin, progesteron i testosteron urađene su primenom metoda RIA. Pri statističkoj obradi podataka korišćeni su: Kraskal-Volisov (Kruskal-Wallis) ANOVA test, χ2-test i Spirmanov (Spearman) test korelacije. Rezultati. Relativna distribucija alela COLIA1 genotipa bila je: SS 54,4%, Ss 41,0% i ss 4,5%. Nije utvrđena značajna razlika između grupa prema genotipu za gustinu koštane mase, starost ispitanica, period amenoreje ili indeks telesne mase žena. Značajna pozitivna korelacija je uočena za indeks telesne mase i paritet. Zaključak. COLIA1 je samo jedan od mnogih gena koji utiču na karakteristike kosti. Kod žena starije životne dobi on može biti marker kvaliteta, kvantiteta i osetljivosti kosti. Kod mladih žena sa PIJ COLIA1 ne može da ukaže na one žene kod kojih postoji veći rizik za nastanak osteoporoze.Projekat ministarstva br. ON 17305