2008 Barcelona - European Society of Human Genetics

Molecular and biochemical basis of disease
tions and metabolic profile in Russian athletes. The study involved 33
male Russian sub-elite endurance-oriented athletes (road cyclists),
who were randomly assigned to consume carbohydrates/minerals
(CARB, n=17; 6% 200 ml drink “Olympia” (Estonia)) or placebo (CON,
n=16; 200 ml pure water) for 20 d at 20th min from the end of evening
training . Plasma concentrations of total cholesterol, glucose and resting
lactate (La) were evaluated in the morning before and at the end
of experiment . NFATC4 Ala160Gly, PGC1A Gly482Ser, PPARA G/C,
PPARG Pro12Ala, PPARD +294T/C, TFAM Thr12Ser, UCP2 Ala55Val,
UCP3 -55C/T gene polymorphisms were determined by PCR-RLFP .
At base-line PPARA C allele carriers exhibited the highest values of
La (P=0 .008); NFATC4 Ala (P=0 .04) and TFAM Ser (P=0 .024) alleles
were associated with higher glucose concentrations . At the end of experiment
PGC1A Ser (r=0 .54, P=0 .03), PPARG Pro (r=0 .58, P=0 .019)
alleles were positively correlated with high values of La in CARB- and
CON-groups, respectively, whilst PPARD C allele (r=0 .47, P=0 .055)
was associated with higher total cholesterol levels in CARB-group .
Furthermore, PPARG Pro allele carriers of CARB-group showed the
greatest decrease in total cholesterol . Thus, polymorphisms of PG-
C1A, PPARG and PPARD genes (involved in carbohydrate and lipid
metabolism) may interact with carbohydrate intake to modulate metabolic
profile of endurance-oriented athletes.
P06.213
cannabinoid type-1 receptor gene polymorphisms are
associated with central obesity in a southern Brazilian
population
J. P. Jaeger 1 , V. S. Mattevi 2 , S. M. Callegari-Jacques 1 , M. H. Hutz 1 ;
1 Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil, 2 Fundação
Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil.
The CB1 cannabinoid receptor and its endogenous ligands, the endocannabinoids,
are involved in energy balance control, stimulating
appetite and increasing body weight in wasting syndromes . Different
studies have investigated the relationship between polymorphisms of
the cannabinoid receptor 1 (CNR1) gene and obesity with conflicting
results . In the present study, we investigated the 1359G/A (rs1049353),
3813A/G (rs12720071) and 4895A/G (rs806368) polymorphisms in the
CNR1 gene in a Brazilian population of European descent . To verify
the association between these variants and obesity-related traits in
this population, 756 individuals were genotyped by PCR-RFLP methods
. The 4895G allele was associated with waist to hip ratio (WHR)
(P=0 .014; P=0 .042 after Bonferroni correction) . An additive effect with
the GAA haplotype was associated with WHR (P=0 .028), although
this statistical significance disappeared after Bonferroni correction
(P=0.084). No significant association was observed between the genotypes
of the 1359G/A and 3813A/G polymorphisms and any of the
quantitative variables investigated. Our findings suggest that CNR1
gene polymorphism is associated with central obesity in this Brazilian
population of European ancestry .
P06.214
Association between haptoglobin phenotype and serotonin
transporter gene polymorphism (5HttVNtR) in the obesity
inflammatory process
P. Levy1 , C. Marinho1 , J. Ferreira1 , A. Esteves1 , D. Figueiredo1 , M. Laires2 , P.
Teixeira2 , J. Themudo Barata2 , L. Sardinha2 , M. Bicho1 ;
1 2 Genetic Laboratory, Medical School, Lisbon, Portugal, School of Sport and
Exercise Sciencies, Lisbon, Portugal.
Introduction: Obesity is a chronic disease associated with an increase
of oxygen reactive species . BMI is related with immunologic changes
resulting in a decrease of antigen tolerance and in a predominance of
Th2 immunologic system profile. Haptoglobin is an acute phase protein.
It has three genotypes 1.1, 2.1 and 2.2 that differ in their affinity
to complex haemoglobin and that are involved in the modulation of
immunological response . Genotype 1 .1 is associated with a predominant
Th2 response . Serotonin participates in Th1/Th2 balance as it
regulates cytokines release . Their intra and extracellular concentrations
are regulated by its transporter whose efficacy depends on its
genetic polymorphisms .
Objective: Haptoglobin and 5HTTVNTR polymorphisms as risk factors
for obesity .
Methods: 289 women were studied, 248 with overweight or obesity
(BMI=30,19±3,74 Kg/m2; 47,31±12,63 years old) and 41 controls
(56,29±11,67 years old). 5HTTVNTR was amplified by PCR and haptoglobin
phenotype by PAGE .
Results: Women caring allele 1 of Hp showed a higher risk for obesity
(OR=2,270; IC 95% [1,011-5,098]; p