2008 Barcelona - European Society of Human Genetics

Molecular and biochemical basis of disease
being in-line with this SNP’s previously reported T2DM association and
a role of circulating IL-6 as intermediate phenotype . This large joint
analysis underscores that a consortium-based approach is well-suited
to investigate small genetic effects .
P06.173
Apolipoprotein A5 gene APOA5*2 haplotype variant confers risk
for the development of metabolic syndrome
P. Kisfali 1 , M. Mohás 2 , A. Maász 1 , F. Hadarits 3 , L. Markó 2 , I. Késői 2 , T. Oroszlán
4 , Z. Bagosi 4 , Z. Bujtor 4 , J. Rinfel 5 , B. Gasztonyi 4 , I. Wittmann 2 , B. Melegh 1 ;
1 Department of Medical Genetics and Child Development, University of Pécs,
Pécs, Hungary, 2 2nd Department of Medicine and Nephrological Center, University
of Pécs, Pécs, Hungary, 3 Central Laboratory, Markusovszky County
Hospital, Szombathely, Hungary, 4 2nd Department of Medicine, Zala County
Hospital, Zalaegerszeg, Hungary, 5 3rd Department of Medicine and Family
Medicine Institute, University of Pécs, Pécs, Hungary.
The metabolic syndrome may affect 18-30 per cent of the adult population
in the industrialized countries and is considered a veritable
epidemic . Metabolic syndrome is a clustering of abdominal obesity,
increased triglycerides, low levels of high density lipoprotein cholesterol,
high blood pressure, and elevated fasting glucose levels and
consists of multiple risk factors that are increasing the cardiovascular
mortality . The etiology is complex, determined by the interplay of both
genetic and environmental factors . Naturally occurring variants of the
apolipoprotein A5 gene have been associated with increased triglycerides
and have been found to confer risk for cardiovascular diseases
. In our study four haplotype-tagging polymorphisms, the T-1131C,
IVS3+G476A, T1259C, and C56G alleles, and the haplotype profiles
were studied in 343 patients with MS and 284 controls . Minor alleles of
all apoA5 variants, except the C56G variant, were associated with increased
triglyceride levels both in the MS patients and in the controls .
The serum total cholesterol levels did not show allele-dependent differences.
The prevalence of the apoA5*2 haplotype, defined by the simultaneous
presence of -1131C, IVS3+473A and 1259C variants, was
13 .4% in MS patients and 4 .91% in the controls (p