2009 Vienna - European Society of Human Genetics

Genetic analysis, linkage ans association
ma, suggesting an important hormonal regulation of afamin expression
(at least in mice). We therefore performed hormone substitution
experiments in Tfm and wild-type mice (by means of subcutaneously
applied hormone-saturated silicone implants). Estradiol had no effect
on afamin concentrations in either mice. Testosterone, in contrast, led
to diminished plasma concentrations in wildtype mice and normalized
the low afamin values in Tfm mice. These data suggest androgen-receptor-
dependent and -independent influences of testosterone on the
expression of afamin.
P17.08
Association of mitochondrial DNA 16189 t/c polymorphism in
turkish patients with metabolic syndrome
A. Cenk 1 , M. Akkiprik 2 , Ç. Sinan 3 , Ö. Ayşe 2 ;
1 Namik Kemal University, Faculty of Science and Art, Biology Division, Department
of Molecular Biology, Tekirdag, Turkey, 2 Marmara University, School of
Medicine, Department of Medical Biology, Istanbul, Turkey, 3 Gulhane Military
Medical School, Haydarpasa Teaching Hospital, Department of Endocrinology
and Metabolism, Istanbul, Turkey.
Metabolic syndrome (MetS) is a cluster of several clinical conditions
including dyslipidemia, hypertension, and hyperglycemia. A common
variant in mitochondrial DNA (mtDNA) at 16189 bp (T/C transition) has
been suggested to be related to thinness, impaired glucose tolerance/
type 2 diabetes mellitus (DM) and insulin resistance. The objective of
our study is to evaluate association between the 16189 variant of mtD-
NA in Turkish patients with MetS. Seventy subjects with MetS and 150
healthy controls were enrolled in the study. mtDNA was extracted from
peripheral leukocytes and the presence of the 16189 variant of mtDNA
was determined using the PCR-RFLP analysis. The statistical difference
in the frequency of occurrence of the 16189 variant of mtDNA
between patients and healthy controls and its association to type II DM
was assessed by the Pearson’s chi-squire test. Patient variables were
compared between mtDNA 16189T and C carriers by Student’s t test.
P