The role of K121Q ENPP1 polymorphism in diabetes mellitus and its complications
Braz. j. med. biol. res
;
41(3): 229-234, Mar. 2008. ilus, tab
Article
in English
| LILACS
| ID: lil-476573
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 percent, KQ = 48.2 percent, and QQ = 25.9 percent) and BD (KK = 22.0 percent, KQ = 53.8 percent, and QQ = 24.2 percent) compared to European descendant type 2 DM patients (KK = 62.7 percent, KQ = 33.3 percent, and QQ = 4.1 percent) and BD (KK = 61.0 percent, KQ = 35.6 percent, and QQ = 3.4 percent). 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Polymorphism, Genetic
/
Pyrophosphatases
/
Phosphoric Diester Hydrolases
/
Genetic Predisposition to Disease
/
Diabetes Complications
/
Gene Frequency
Type of study:
Observational study
/
Prevalence study
/
Risk factors
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2008
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal do Rio Grande do Sul/BR
/
Universidade Luterana do Brasil/BR
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