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The role of K121Q ENPP1 polymorphism in diabetes mellitus and its complications

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The role of K121Q ENPP1 polymorphism in diabetes mellitus and its complications

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Título The role of K121Q ENPP1 polymorphism in diabetes mellitus and its complications
Autor Leitão, Cristiane Bauermann
Nabinger, Gustavo Baldino
Krahe, Ana L. D.
Bolson, Patrícia Borchardt
Gerchman, Fernando
Friedman, Rogério
Gross, Jorge Luiz
Canani, Luis Henrique Santos
Abstract The aim of the present study was to analyze the frequency of K121Q polymorphism in the ENPP1 gene of Brazilian subjects according to ethnic origin and to determine its possible association with diabetes mellitus (DM) and/or diabetic complications. A cross-sectional study was conducted on 1027 type 2 DM patients and 240 anonymous blood donors (BD). Ethnicity was classified based on self-report of European and African descent. The Q allele frequency was increased in African descendant type 2 DM patients (KK = 25.9%, KQ = 48.2%, and QQ = 25.9%) and BD (KK = 22.0%, KQ = 53.8%, and QQ = 24.2%) compared to European descendant type 2 DM patients (KK = 62.7%, KQ = 33.3%, and QQ = 4.1%) and BD (KK = 61.0%, KQ = 35.6%, and QQ = 3.4%). However, there was no difference in genotype distribution or Q allele frequency between diabetic and non-diabetic subjects (European descendants: DM = 0.21 vs BD = 0.21, P = 0.966, and African descendants: DM = 0.50 vs BD = 0.51, P = 0.899). In addition, there were no differences in clinical, laboratory or insulin resistance indices among the three genotypes. The prevalence of DM complications was also similar. In conclusion, K121Q polymorphism is more common among Afro-Brazilian descendants regardless of glycemic status or insulin sensitivity indices. Likewise, insulin sensitivity and DM chronic complications appear not to be related to the polymorphism in this sample.
Contido em Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas. Ribeirão Preto, SP. Vol. 41, no. 3 (Mar. 2008), p. 229-234
Assunto Complicações do diabetes
Diabetes mellitus tipo 2
Distribuição por raça ou etnia
Grupo com ancestrais do continente africano
Grupo com ancestrais do continente europeu
Poliformismo genético
[en] ENPP1 polymorphism
[en] Ethnicity
[en] Type 2 diabetes mellitus
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/21224
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