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3rd meeting of young researchers at UP 1 - IJUP - Universidade do ...

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Familial aggreg<strong>at</strong>ion on trunkal f<strong>at</strong> <strong>of</strong> Portuguese nuclear families. A<br />

quantit<strong>at</strong>ive genetic study.<br />

M. Souza, R. Chaves, D. Santos, R. Garganta, A. Seabra, J. Maia<br />

CIFI2D, Department <strong>of</strong> Kinanthropometry and Applied St<strong>at</strong>istics, Faculty <strong>of</strong> Sport, University <strong>of</strong> Porto,<br />

Portugal.<br />

An android f<strong>at</strong> p<strong>at</strong>tern induces significant risks in the manifest<strong>at</strong>ion <strong>of</strong> cardiovascular disease<br />

(CVD) and metabolic disorders [1-3]. There is evidence th<strong>at</strong> some individuals are more<br />

susceptible to changes in trunkal f<strong>at</strong> (TF), suggesting th<strong>at</strong> genetic factors play important roles<br />

in the etiology <strong>of</strong> this multifactorial and polygenic phenotype [3-4]. There is a lack <strong>of</strong> studies<br />

in Genetic Epidemiology in Portugal aiming <strong>at</strong> verifying familiar aggreg<strong>at</strong>ion (FA) and<br />

predicting the influence <strong>of</strong> the genetic factors in TF.<br />

The aims <strong>of</strong> this study were to (1) identify the presence <strong>of</strong> indirect transmission <strong>of</strong> genetic<br />

factors between parents and children in two phenotypes <strong>of</strong> TF, and (2) to estim<strong>at</strong>e the<br />

contribution <strong>of</strong> genetic and environmental factors responsible for phenotypic vari<strong>at</strong>ion on<br />

rel<strong>at</strong>ive trunkal f<strong>at</strong> (TFrel) and absolute trunkal f<strong>at</strong> (TFabs).<br />

The sample consisted <strong>of</strong> 422 individuals from 107 Portuguese nuclear families. TFrel and TFabs<br />

were measured with a bioelectric impedance device, Tanita ® model BC-418MA. Family<br />

structure and quantit<strong>at</strong>ive genetic analysis <strong>of</strong> the two phenotypes between different family<br />

members were verified in PEDSTATS. Familiar correl<strong>at</strong>ions were computed in the FCOR<br />

module <strong>of</strong> SAGE 5.3. Heritability estim<strong>at</strong>es (h 2 ) estim<strong>at</strong>ed using a maximum likelihood<br />

method implemented in SOLAR 4.0.<br />

Correl<strong>at</strong>ion coefficients (intraclass between same-sex members and interclass between<br />

opposite-sex pairs) were low-to-moder<strong>at</strong>e: TFrel (0.205 < r < 0.738) and TFabs (0.199 < r <<br />

0.782). Genetic factors explained 50 and 47% <strong>of</strong> the vari<strong>at</strong>ion in phenotypes <strong>of</strong> TFrel and TFabs,<br />

respectively.<br />

These results (1) showed a strong familial aggreg<strong>at</strong>ion on trunkal f<strong>at</strong> <strong>of</strong> Portuguese nuclear<br />

families; (2) a moder<strong>at</strong>e-to-high genetic influence in their distribution <strong>at</strong> the popul<strong>at</strong>ion level;<br />

(3) contribute to promote the need for further studies in Genetic Epidemiology (4) and suggest<br />

the need for physical activity and nutritional interventions directed to all family members to<br />

reduce this risk factor – high levels <strong>of</strong> trunkal f<strong>at</strong>.<br />

References:<br />

[1] K<strong>at</strong>zmarzyk PT, Bouchard C. (2005), Genetic Influences on Human Body Composition, In:<br />

Heymsfield SB, Lohman TG, Wang Z, B. GS, “Human Body Composition”. Second Edition ed: Human<br />

Kinetics.<br />

[2] Rice TK, Borecki IB. (2001), Familial Resemblance. In: Rao DC, Province MA, “Genetic<br />

Dissection <strong>of</strong> Complex Traits”, Academic Press.<br />

[3] Bell CG, Walley AJ, Froguel P.(2005), The genetics <strong>of</strong> human obesity. N<strong>at</strong> Rev Genet, 6 (3), 221-<br />

34.<br />

[4] Rankinen T, Zuberi A, Chagnon YC, Weisnagel SJ, Argyropoulos G, Walts B, et al. (2006), The<br />

human obesity gene map: the 2005 upd<strong>at</strong>e. Obesity (Silver Spring), 14 (4), 529-644.<br />

320 3 rd <strong>meeting</strong> <strong>of</strong> <strong>young</strong> <strong>researchers</strong> <strong>at</strong> <strong>UP</strong>

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