MS282 ROLE OF SUSCEPTIBILITY GENETIC VARIANTS AND ENVIRONMENTAL FACTORS IN OBESITY RISK IN TWO SPANISH POPULATION BASED STUDIES

2010 ◽  
Vol 11 (2) ◽  
pp. 166
Author(s):  
F.J. Chaves ◽  
M.L. Mansego ◽  
S. Morcillo ◽  
G. Rojo ◽  
F. Martínez ◽  
...  
e-Neuroforum ◽  
2013 ◽  
Vol 19 (3) ◽  
Author(s):  
N. Sachser ◽  
K.-P. Lesch

AbstractIndividual differences in fear, anxiety, and the etiology of anxiety disorders develop dur­ing ontogeny. They are due to both genet­ic and environmental factors. With regard to the role of the environment, the organism is most susceptible to external influences dur­ing early development. Accordingly, stressors that impinge on the maternal organism dur­ing pregnancy evoke high levels of anxiety in the offspring later in life, as does an adverse early postnatal environment. However, anxi­ety-related circuits in the central nervous sys­tem retain their plasticity in adulthood, i.e., levels of anxiety can also be modified by ex­perience across the entire successive lifespan. Notably, the effects of external stressors on the individual’s level of anxiety are modulat­ed by genotype. Such genotype-by-environ­ment interactions are particularly well stud­ied in relation to genetic variants that modu­late the function of the serotonin transport­er. Thus, this review focuses on this candidate gene to elucidate the interplay of genotype and environment in the development of fear and anxiety.


2009 ◽  
Vol 125 (8) ◽  
pp. 1953-1960 ◽  
Author(s):  
Farhad Pourfarzi ◽  
Anna Whelan ◽  
John Kaldor ◽  
Reza Malekzadeh

2019 ◽  
Vol 25 (3) ◽  
pp. 228-235 ◽  
Author(s):  
Giulia Accardi ◽  
Stefano Aprile ◽  
Giuseppina Candore ◽  
Calogero Caruso ◽  
Rosanna Cusimano ◽  
...  

Background: It is well known that long living individuals are a model of successful ageing and that the identification of both genetic variants and environmental factors that predispose to a long and healthy life is of tremendous interest for translational medicine. Methods: We present the preliminary findings obtained from an ongoing study on longevity conducted on a sample of Sicilian long-lived individuals. Results: We review the characteristics of longevity in Sicily, taking into account lifestyle, environment, genetics, hematochemical values, body composition and immunophenotype. In addition, we discuss the possible implications of our data for the prevention and/or treatment of age-related diseases. Conclusion: As widely discussed in this review, the explanation of the role of genetics and lifestyle in longevity can provide important information on how to develop drugs and/or behaviours that can slow down or delay ageing. Thus, it will be possible to understand, through a “positive biology” approach, how to prevent and/or reduce elderly frailty and disability.


Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Nina Nouhravesh ◽  
Gustav Alhberg ◽  
Peter E Weeke ◽  
Morten S Olesen

Background: Dilated cardiomyopathy (DCM) has been associated with hundreds of genetic variants across 62 genes. These associations are now being questioned by large control populations in which these variants are found with high allele frequencies. Hypothesis: We hypothesized that genetic variants previously associated with DCM are overrepresented in the population-based ExAC database when taking the prevalence of the disease into account. Hence, we aimed to identify potentially false-positive variants previously associated with DCM. Methods: We identified all previously DCM associated variants in The Human Gene Mutation Database (HGMD). We then systematically searched for these in the ExAC database containing exome data on 61.000 individuals. In addition, we performed a PolyPhen-2 prediction on all variants, including those not found in the ExAC database. Results: We identified 148 (31%) out of 473 variants previously associated with DCM in ExAC. These variants included eight stop-gain variants, eight splice variants and 132 missense variants. The 148 variants affected 7.928 alleles corresponding to a genotype prevalence of 1:7 in the ExAC population. Thirty-five variants were found in 25 or more alleles, corresponding to a DCM genotype prevalence of 1:8 Furthermore, we identified all variants previously associated with DCM in 14 genes; hereof 4 genes only contained variants above our estimated allele frequency (25:61000). Polyphen-2 analysis predicted 53 (36%) variants to be benign in the ExAC population compared with 53 (16%) among variants not found in ExAC (p<0.001). Conclusion: In conclusion, we identified much higher genotype prevalence of previously DCM associated variants than expected in the exome data from ExAC. More importantly we found 4 genes in which all previously identified variants were found with relative high allele frequencies, questioning the association of these genes with the monogenic form of DCM.


Obesity ◽  
2020 ◽  
Vol 29 (1) ◽  
pp. 29-37 ◽  
Author(s):  
Ujué Fresán ◽  
Marcela Guevara ◽  
Fernando Elía ◽  
Esther Albéniz ◽  
Cristina Burgui ◽  
...  

2017 ◽  
Vol 2017 ◽  
pp. 1-16 ◽  
Author(s):  
Soumaya Boumiza ◽  
Sarra Bchir ◽  
Hela ben Nasr ◽  
Ammar Abbassi ◽  
Marie-Paule Jacob ◽  
...  

Aims. The impact of MMP-1 (-519A/G, -1607 1G/2G), MMP-3 Lys45Glu (A/G), MMP-7 -181A/G, and MMP-12 -82A/G variants and plasma MMP levels on obesity and microvascular reactivity in Tunisians.Methods. Our population included 202 nonobese and 168 obese subjects. Anthropometric, biochemical, and microvascular parameters were determined according to standard protocols. PCR-RFLP and ELISA were used to determine the genetic variants and levels of MMPs, respectively.Results. The MMP-3 45Glu (G) allele associates with higher anthropometric values and MMP-3 levels compared to AA genotype carriers (BMI (kg/m2): 30 ± 0.51 versus 27.33 ± 0.8,P=0.004; MMP-3 levels: 7.45 (4.77–11.91) versus 5.21 (3.60–10.21) ng/ml,P=0.006). The MMP-12 -82G allele was also associated with higher BMI values when compared to subjects carrying the AA genotype (31.41 ± 0.85 versus 28.76 ± 0.43,P<0.001). Individuals carrying the MMP-3 45G or MMP-12 -82G variants were also associated with a higher risk for severe forms of obesity (MMP-3: OR = 1.9,P=0.002; MMP-12: OR = 2.63,P=0.003). Similarly, the MMP-7 -181G allele was associated with a higher MMP-7 level and an increased risk for morbid obesity when compared to AA genotype carriers (0.32 (0.31–0.60) versus 0.18 (0.17–0.24) ng/ml,P=0.01; OR = 1.67,P=0.02, resp.).Conclusion. MMP-3, MMP-7, and MMP-12 polymorphisms associate with obesity risk and its severity.


2010 ◽  
Vol 163 (4) ◽  
pp. 509-513 ◽  
Author(s):  
S Cannavò ◽  
F Ferraù ◽  
M Ragonese ◽  
L Curtò ◽  
M L Torre ◽  
...  

ObjectiveDespite the contribution of national registries and population-based reports, data concerning the epidemiology of acromegaly is scanty. In addition, the role of the environmental context has not been investigated.DesignEpidemiology of acromegaly was studied in the province of Messina (Sicily, Italy), focusing on the influence of environmental factors.MethodsFour zones, characterized by different degrees of exposition to environmental toxins due to industrial pollution, were identified in the province: area A (76 338 inhabitants), area B (287 328 inhabitants), area C (243 381 inhabitants), and area D (47 554 inhabitants) at low, middle-low, middle, and high industrial density respectively. We identified all acromegalics who were born and resided in the province of Messina, among patients either referred to our endocrine unit or referred elsewhere but recorded in the archives of the provincial healthcare agency.ResultsIn the province of Messina, we found 64 patients (2 in area A, 24 in area B, 28 in area C, and 10 in area D). Macroadenomas were 60%, the male/female ratio was 1, and mean age at diagnosis (±s.e.m.) was 45.4±1.6 years. Overall, prevalence was 97 c.p.m. in the province (26 c.p.m. in area A, 84 c.p.m. in area B, 115 c.p.m. in area C, and 210 c.p.m. in area D). Risk ratio (RR), calculated in every area assuming area A as a reference, showed an increased risk of developing acromegaly in people residing in area D (RR=8.03; P<0.0014).ConclusionThis study confirms the prevalence of acromegaly reported recently. The increased risk of developing this disease in area D suggests that the pathogenetic role of environmental context needs to be better evaluated.


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