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The European‐Specific Mitochondrial Cluster J/T Could Confer an Increased Risk of Insulin‐Resistance and Type 2 Diabetes: An Analysis of the m.4216T > C and m.4917A > G Variants
Author(s) -
Crispim D.,
Canani L. H.,
Gross J. L.,
Tschiedel B.,
Souto K. E. P.,
Roisenberg I.
Publication year - 2006
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2005.00249.x
Subject(s) - haplogroup , insulin resistance , medicine , mitochondrial dna , odds ratio , diabetes mellitus , type 2 diabetes , cluster (spacecraft) , human mitochondrial dna haplogroup , type 2 diabetes mellitus , endocrinology , haplotype , gastroenterology , insulin , genetics , biology , genotype , gene , programming language , computer science
Summary The aims of this study were to investigate the contributions of the mitochondrial DNA m.4216T > C and m.4917A > G variants, and also of the European‐specific mitochondrial cluster J/T, to the development of type 2 diabetes mellitus in Caucasian‐Brazilian patients from Southern Brazil. We analyzed 347 type 2 diabetes patients and 350 control subjects. Variant frequencies in patients and control subjects were compared using χ 2 tests or odds ratio. We also compared clinical and laboratory characteristics among patients with and without the variants. We found that the frequencies of the m.4216T > C and m.4917A > G variants are higher in diabetic patients than in control subjects. Moreover, haplogroups J (partially defined by the presence of the m.4216T > C variant only) and T (partially defined by the presence of both m.4216T > C and m.4917A > G variants) are more frequent in the type 2 diabetic group than in the control group. Patients belonging to the cluster J/T are more insulin resistant than patients of other haplogroups. In conclusion, our results indicate the association of the cluster J/T (as suggested by analyses of the m.4216T > C and m.4917A > G variants) with insulin resistance and type 2 diabetes.