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Tytuł oryginału: Further studies of genetic susceptibility to Graves' disease in a Russian population.
Autorzy: Chistiakov Dimitry A., Savost'anov Kirill V., Turakulov Rustam I., Petunina Natal'ya, Balabolkin Mikhail I., Nosikov Valery V.
Źródło: Med. Sci. Monitor 2002: 8 (3) s.CR180-CR184, il., tab., bibliogr. 27 poz.
Sygnatura GBL: 313,278

Hasła klasyfikacyjne GBL:
  • genetyka
  • endokrynologia

    Typ dokumentu:
  • praca kliniczna
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • dorośli 19-44 r.ż.
  • dorośli 45-64 r.ż.
  • płeć męska
  • płeć żeńska

    Streszczenie angielskie: Background: Graves' disease (GD) is a polygenic autoimmune thyroid syndrome. Some of the genes implicated in its pathogenesis may encode thyroid-stimulating hormone receptor (TSHR) and estrogen receptors 1 (ESR1) and 2 (ESR2). We examined dinucleotide repeat polymorphisms in the ESR1 and ESR2 genes and D727E amino acid substitution in the TSHR gene for possible association with GD in a Russian population. Material/Methods: The polymorphic regions of the target genes were amplified by polymerase chain reaction (PCR) on the basis of genomic DNA isolated from blood of 78 unrelated Russian patients with GD and 93 control subjects. TO detect the D727E TSHR polymorphism, the PCR product was additionally digested with Eco721 restriction endonuclease. The genotype and allele frequencies in the groups studied were compared by chi-squared test. The odds ratios and 95 p.c. confidence intervals (CI) were calculated to assess the strength of the relationship between the polymorphisms tested and GD. Results: For polymorphic dinucleotide microsatellites at ESR1 and ESR2, no significant difference was observed in allele frequencies between affected and nonaffected patients. For the D727E TSHR polymorphism, the E allele and the DE genotype were significantly more frequent (p 0.0001) in patients with GD than in control subjects. Conclusions: The D727E variant of the TSHR gene is associated with Graves' disease in a Russian population. The E727 allele and the heterozygous D727E genotype are realated to higher risk of the disease. No association with GD was found for polymorphic microsatellites of the ESR1 and ESR2 gene.

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