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Zapytanie: MALECKI
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Tytuł oryginału: Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population.
Autorzy: Malecki Maciej T., Moczulski Dariusz K., Klupa Tomasz, Wanic Krzysztof, Cyganek Katarzyna, Frey Jakub, Sieradzki Jacek
Źródło: Eur. J. Endocrinol. 2002: 146 (5) s.695-699, tab., bibliogr. 19 poz.
Sygnatura GBL: 301,344

Hasła klasyfikacyjne GBL:
  • genetyka
  • endokrynologia

    Typ dokumentu:
  • praca epidemiologiczna
  • praca opublikowana za granicą
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie

    Streszczenie angielskie: Objective: The polymorphisms of two genes have recently been associated with complex forms of type 2 diabetes mellitus (T2DM): calpain 10 and peroxisome proliferator-actvated receptor-ç (PPARç). Calpain 10 is a member of a large family of intracellular protease. It was shown in Mexican-Americans and other populations that variants of three single nucleotide polymorphisms (SNPs), -43, -19, and -63, of this ubiquitously expressed protein influence susceptibility to T2DM. However, substantial differences were shown between ethnic groups in at risk alleles and haplotypes as well as in their attributable risk. Thus, it is important to determine the role of calpain 10 in various populations. Aim: To examine the role of calpain 10 SNPs -43, -19, and -63 in genetic susceptibility to T2DM in a Polish population. Methods: Overall, 377 individuals were examined: 229 T2DM patients and 148 control individuals. The groups were genotyped for calpain 10 SNP-43, SNP-19, and SNP-63. SNP-19 was examined by electrophoresis of the PCR product on agarose gel by size, while the restriction fragment length polymorphism (RFLP) method was used for the two other markers. Difference in allele, genotype, haplotype, and haplotype combination distribution between the groups were examined by Xý test. Results: Distributions of alleles, genotypes, and haplotypes at three loci defined by examined SNPs were not significantly different between the groups. However, the homozygote combination of 121 haplotype was more prevalent in the T2DM group than in the controls (17.9 p.c. vs 10.1 p.c., P = 0.039)...

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