Odnos polimorfizma gena za vitamin-D receptor, alfa-1 lanac kolagena I i estrogeni receptor i koštane mase u bolesnika s hipertireozom [The association of polymorphisms of the vitamin-D receptor gene, collagen type I alpha-1 gene and estrogen receptor gene and bone mineral density in patients with hyperthyroidism]

Jelčić, Jozo (2008) Odnos polimorfizma gena za vitamin-D receptor, alfa-1 lanac kolagena I i estrogeni receptor i koštane mase u bolesnika s hipertireozom [The association of polymorphisms of the vitamin-D receptor gene, collagen type I alpha-1 gene and estrogen receptor gene and bone mineral density in patients with hyperthyroidism]. PhD thesis, Sveučilište u Zagrebu.

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Abstract

Hyperthyroidism is a recognised risk factor for secondary osteoporosis. Little is known about the genetic origin of osteoporosis in patients with hyperthyroidism. This is the first study to examine the association between polymorphism of the VDR (TaqI), ERalpha (PvuII), COLIA1 (BalI) genes and BMD in premenopausal women with hyperthyroidism. This study comprised 45 premenopausal women, with the average age 40,4±7,7 years. The BMD was measured in using dual X-ray absorptiometry (DXA) in the L1-L4 region of the spine and femoral neck. Multivariate analysis found no significant correlation between polymorphisms of the 3 selected genes, individually or in combination, and BMD at the lumbar spine and femoral neck, and no correlation between polymorphisms and osteoporosis and osteopenia. A relationship was found between body mass index (BMI) and BMD at femoral neck in patients heterozygous for Taq1 polymorphism of the VDR gene and PvuII polymorphism of the ER gene, and homozygous for BalI polymorphism of the COL1AI. ----- CONCLUSION: A statistically significant association was not found between TaqI polymorphism of the VDR gene, PvuII polymorphism of the ERalpha gene and BalI polymorphism of the COLIA1 gene and BMD at the lumbar spine and femoral neck in hyperthyroid premenopausal women.

Abstract in Croatian

Hipertireoza je poznati čimbenik rizika za nastanak sekundarne osteoporoze. Malo se zna o genetskoj podlozi nastanka osteoporoze u bolesnika s hipertireozom. Ovo je prvo ispitivanje povezanosti polimorfizama gena za VDR (TaqI), ERalpha (PvuII) i COLIA1 (BalI) u bolesnica premenopauzalne dobi s hipertireozom i BMD-a. Ispitivanje je učinjeno u 45 ispitanica u premenopauzi (40,4±7,7 godina). BMD je mjeren DXA metodom u L1-L4 regiji i vratu bedrene kosti, a rezultati su pokazali osteoporozu u 3, a osteopeniju u 31 bolesnice. Multiregresijskom analizom nije dokazana statistički značajna povezanost između polimorfizama bilo kojeg od ova tri gena, niti pojedinačno, niti u kombinaciji, s BMD-om slabinske kralježnice i vrata bedrene kosti, odnosno nalazom osteopenije ili osteoporoze. Ustanovljena je povezanost ITM-a i BMD-a vrata bedrene kosti u bolesnica koje su bile heterozigoti polimorfizma Taq1 gena za VDR i PvuII gena za ER, te dominantni homozigoti polimorfizma BalI gena za COL1AI. ----- ZAKLJUČAK: Nije ustanovljena povezanost polimorfizama TaqI gena za VDR, PvuII gena za ERalpha i BalI gena za COLIA1 s BMD-om slabinske kralježnice i vrata bedrene kosti, kao ni s osteopenijom i osteoporozom u premenopauzalnih bolesnica s hipertireozom.

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