Background: Since the emergence of the genus Homo, hominids have occupied a wide variety of envir... more Background: Since the emergence of the genus Homo, hominids have occupied a wide variety of environments, facing different selective pressures. Objectives: The aim this study is to compare genotype frequencies between South-West Europe and Peri-equatorial Africa in genes potentially modulators of blood pressure. Methods: The analyzed sample consisted of 325 individuals from Portugal and 226 individuals from Africa (48 from Mozambique and 178 from São Tomé and Príncipe). The following genetic variants were analyzed: intron 4 VNTR in eNOS, rs1050829 in G6PD, -3.7kb α-thalassemic deletion in HBA, rs1800457 in CYB5R3, Hp 1/2 genotype/phenotype in Hp and intron 16 I/D in ACE. Results: Frequencies of genotypes with the 4a allele in eNOS (p<0.001), the G allele in G6PD (p<0.001), the α-3.7 kb in HBA (p <0.001), the C allele in the CYB5R3 (p<0.001) were higher in Peri-equatorial Africa. The Hp 1.1 genotype of Hp has a higher frequency in Peri-equatorial Africa (p=0.002). ACE sho...
Genetic factors of alcoholism influence the phenotypic heterogeneity of alcohol dependence, allow... more Genetic factors of alcoholism influence the phenotypic heterogeneity of alcohol dependence, allowing the higher or lower expression of related aggressive behaviours. The pathogenesis of alcoholism and anti-social behaviour has been connected to serotonergic system dysfunction, given support to examine the association with 44-basepair insertion/deletion polymorphism of serotonin gene transporter (5-HTT). The study aims to assess the relationship between 5-HHTLPR polymorphism, aggressive behaviour and alcohol consumption pattern. There were recruited 97 alcohol dependent patients from the alcoholism unit (Etilo-Risco) of the Psychiatric Service of Santa Maria Hospital. Blood for DNA extraction and clinical and behavioural information was collected during the therapeutic program. Regarding 5-HTTLPR polymorphism prevalence in alcoholic population, 30.7% were homozygotic to l allele, 19.8% were homozygotic to s allele and 49.5% were heterozygotic l/s. Alcoholic patients carrying the l al...
Aguiar L1,2,3, Matos A1,2,3, Gil A1,2,3, Ferreira J1,2,3, Alonso I1,2,3, Rebelo I4,5, Braga L6, A... more Aguiar L1,2,3, Matos A1,2,3, Gil A1,2,3, Ferreira J1,2,3, Alonso I1,2,3, Rebelo I4,5, Braga L6, Almeida S7, Kjollerstrom P6, Faustino P3,8, Bicho M1,2,3, Inácio A1,2,3 1Instituto De Investigação Científica Bento Da Rocha Cabral, Lisboa 2Laboratório de Genética, Faculdade de Medicina da Universidade de Lisboa, Lisboa 3Instituto de Saúde Ambiental, Faculdade de Medicina da Universidade de Lisboa, Lisboa 4Departamento de Bioquímica, Faculdade de Farmácia da Universidade do Porto, Porto 5Instituto de Biologia Molecular e Celular, Porto 6Unidade de Hematologia, Hospital de Dona Estefânia, Lisboa 7Serviço de Genética Médica, Hospital de Dona Estefânia, Lisboa 8Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa
Background. Cardiovascular risk (CVR) underlies aging process and longevity. Previous work points... more Background. Cardiovascular risk (CVR) underlies aging process and longevity. Previous work points to genetic and environmental factors associated with this risk.Objectives. The aim of this research is to look for any CVR gene-gene and gene-multifactorial/lifestyle interactions that may impact health and disease and underlie exceptional longevity.Methods. A case-control study involving 521 both gender individuals, 253 centenarians (100.26±1.98years), and 268 controls (67.51±3.25years), low (LCR,n=107) and high (HCR,n=161) CVR. Hypertension, diabetes, obesity (BMI, kg·m-2), and impaired kidney function were defined according to standard criteria. CVR was calculated using Q risk®. DNA was genotyping (ACE-rs4646994,AGT-rs4762,AGR1-rs5182,GRK4-rs2960306,GRK4-rs1024323,NOS3-rs1799983, andSLC12A3-rs13306673) through iPlex-MassARRAY®, read by MALDI-TOF mass spectrometry, and analyzed by EARTDECODE®.Results. Antilongevity factors consisted (OR 95% CI,p<0.05) BMI 1.558 (1.445-1.680), hyper...
INTRODUÇÃO: A metilenotetrahidrofolato redutase (MTHFR) cataliza a redução irreversível do folato... more INTRODUÇÃO: A metilenotetrahidrofolato redutase (MTHFR) cataliza a redução irreversível do folato que cede grupos metil para a síntese de metionina a partir da homocisteína. São escassos os dados epidemiológicos de distribuição do polimorfismo C677T da MTHFR em diabéticos tipo 2 portugueses com e sem angiopatia. Conhecer a variação polimórfica desta enzima e sua relação com outros factores de risco cardiovascular pode ajudar a definir medidas de prevenção e contribuir para a diminuição de gastos em saúde pública. OBJECTIVO: Avaliar a distribuição do polimorfismo C677T da MTHFR em diabéticos tipo 2 com e sem angiopatia e relacionar com a prevalência de hiperhomocisteinémia e hipercisteinémia. MÉTODOS: Estudo caso-controlo em 134 adultos de ambos os géneros com idades entre 40-75 anos. Foram constituídos dois grupos: I - 69 diabéticos tipo 2 com angiopatia; II - 65 diabéticos tipo 2 sem angiopatia. As concentrações plasmáticas de homocisteína e cisteína foram obtidas por um método de ...
There is a clear association between the excessive and cumulative exposure to estrogens and the d... more There is a clear association between the excessive and cumulative exposure to estrogens and the development of cancer in hormone-sensitive tissues, such as the cervix. We studied the association ofCYP1A1 M1(rs4646903) andCOMT(rs4680) polymorphisms in 130 cervical cancer cases (c-cancer) and 179 controls. TheCYP1A1TT genotype was associated with a lower risk for c-cancer (OR = 0.39,p=0.002). The allele C ofCYP1A1was a risk for c-cancer (OR = 2.29,p=0.002). Women withCOMT LLgenotype had a higher risk of developing c-cancer (OR = 4.83,p<0.001). For the interaction of theCYP1A1&COMT, we observed that TC&HL genotypes had a greater risk for c-cancer (OR = 6.07,p=0.006) and TT&HL genotypes had a protection effect (OR = 0.24,p<0.001). TheCYP1A1 TTandCOMT LLgenotypes had higher estradiol levels in c-cancer (p<0.001andp=0.037, resp.). C-cancer is associated with less production of 2-methoxy-estradiol resultant of functional polymorphisms ofCYP1A1andCOMT, separately.CYP1A1andCOMTwork ...
The gene TAS2R38 single nucleotide polymorphisms (SNPs-P49A, A262V and V296I) can condition bitte... more The gene TAS2R38 single nucleotide polymorphisms (SNPs-P49A, A262V and V296I) can condition bitter tasting by PAV (proline–alanine–valine) and non-bitter-tasting by AVI (alanine–valine–isoleucine) homozygosity. We evaluated this polymorphisms association with thyroid function, metabolism and anthropometry parameters determined by: Endpoint analysis (SNPs); DXA (fat mass-%, total fat mass—kg, lean mass—kg); Standard methods (lipid metabolism parameters, HbA1c-%, glycemia—mg/dL, insulinemia—µIU/mL, HOMA-IR, uricemia—mg/dL, calcemia—mg/dL and BMI—kg/m2); ELISA (leptinemia—ng/mL); Spectrophotometry (Angiotensin Converting Enzyme activity—UI/L). Statistics: SPSS program; OR [IC95%]; p < 0.05. Sample: 114 hypothyroid, 49 hyperthyroid, and 179 controls. An association between A262V-valine–valine and hypothyroidism/hyperthyroidism was verified (OR = 2.841; IC95% [1.726–4.676]), p < 0.001/OR = 8.915; IC95% [4.286–18.543]), p < 0.001). Protector effect from thyroid dysfunction: A262V...
Psoriasis is a multifactorial disease, with many genetic risk factors, one of which seems to be t... more Psoriasis is a multifactorial disease, with many genetic risk factors, one of which seems to be the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism. ACE activity has been shown to be higher in psoriatic patients and it suggests an oxidative stress state, as seen in many cardiovascular disorders. We aimed to explore the association between ACE activity and polymorphisms and cardiovascular risk amongst psoriatic patients. We included 64 psoriatic patients and 1091 controls and compared ACE I/D polymorphism genotype and serum activity for both groups. ACE genotypes were similar in psoriatic patients and controls. Notably, serum ACE activity was higher in psoriatic patients (19.09 ± 2.86 U/mL) compared to controls (11.85 ± 0.40 U/mL), p = 0.015. Non-HDL cholesterol was significantly lower in II polymorphism (p = 0.037). Psoriatic activity (PASI) was associated with a higher cardiovascular risk estimated by lower HDL concentrations (r = −0.496, p = 0.007), and h...
The two antagonistic systems of angiotensin converting enzyme (ACE)-1 and ACE-2 are in the “eye o... more The two antagonistic systems of angiotensin converting enzyme (ACE)-1 and ACE-2 are in the “eye of the hurricane” of severe acute respiratory syndrome coronavirus (SARS-CoV-2). The receptor of the SARS-CoV-2 is the same as ACE-2, which causes its under-expression after binding it, followed by the internalization of the complex virus-ACE-2. ACE-2 have multiple functions with specially relevance in cardiovascular diseases. Furthermore, the non-enzymatic role of ACE-2 gives rise to a Hartnup disease, a phenocopy involving microbiota. With this chapter, we intent to explore the key pathways involved in SARS-CoV-2 infection, from the host perspective, considering our hypothesis related to transporter of neutral amino acids, which includes tryptophan precursor of serotonin and kynurenine.
Abstract Hypertension is a multifactorial condition of genetic and environmental nature. In Portu... more Abstract Hypertension is a multifactorial condition of genetic and environmental nature. In Portugal the mean prevalence of hypertension in the population is 45.5%. The aim of this study is to evaluate the contribution of anthropometric, physiological and genetic factors (eNOS and ACE) to the development of hypertension in a Portuguese population. A case-control study was conducted in a sample of 377 individuals, 243 hypertensives and 134 normotensives. The polymorphic analyses of intron 4 VNTR in the eNOS gene and the insertion/deletion (I/D) in ACE gene were performed by polymerase chain reaction (PCR). Higher body mass index (BMI) values, higher glycemia and HOMA -IR levels and the 4a allele of the eNOS gene were associated with hypertension. Among the hypertensive group, the allele 4a (eNOS) was associated with higher levels of HbA1c, and the D allele (ACE) with higher glycemia and HOMA-IR levels. Our results highlight the contribution of eNOS and ACE genes as important players for development of hypertension in the Portuguese population. We believe that a combinatory clinical approach including the traditional anthropomorphic and physiological parameters together with target specific genetic analysis, can be more elucidative in establishing a susceptibility profile on multifactorial conditions as hypertension.
Obesity among children has emerged as a serious public health problem. The growing prevalence of ... more Obesity among children has emerged as a serious public health problem. The growing prevalence of childhood obesity has led to the appearance of serious complications, including a chronic systemic inflammation associated with oxidative stress. In the present study, we analysed the interaction between two genes related with iron metabolism - HFE and haptoglobin – and the plasmatic concentration of glutathione, as a way to evaluate the antioxidant response capacity in obesity. To achieve this, 118 obese children and 89 eutrophic children were recruited for the study. Results showed that although obese children present a significantly decreased tGSH levels, once we analysed separately children based on their haptoglobin phenotype, the decreased tGSH levels is significant only for the Hp 2 allele. Additionally, Hp 2.2 obese children carrying H63D polymorphism show significantly lower tGSH/GSSG values. Our results found an association of haptoglobin and HFE with oxidative stress in child...
Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, 2008
Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and... more Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and impaired systolic function, that in more than 30% of cases has a familial or genetic origin. Given its age-dependent penetrance, DCM frequently manifests in adults by signs or symptoms of heart failure, arrhythmias or sudden death. The predominant mode of inheritance is autosomal dominant, and in these cases mutations are identified in genes coding for cytoskeletal, sarcomeric or nuclear envelope proteins. To date, most studies aimed at molecular diagnosis of DCM have been in selected families, or in larger groups of patients, but screening for mutations in a limited number of genes. Consequently, the epidemiology of mutations in familial DCM remains unknown. There is thus a need for multicenter studies, involving screening for a wide range of mutations in several families and in cases of idiopathic DCM. The present article describes the methodology of a multicenter study, aimed at clin...
Background: Since the emergence of the genus Homo, hominids have occupied a wide variety of envir... more Background: Since the emergence of the genus Homo, hominids have occupied a wide variety of environments, facing different selective pressures. Objectives: The aim this study is to compare genotype frequencies between South-West Europe and Peri-equatorial Africa in genes potentially modulators of blood pressure. Methods: The analyzed sample consisted of 325 individuals from Portugal and 226 individuals from Africa (48 from Mozambique and 178 from São Tomé and Príncipe). The following genetic variants were analyzed: intron 4 VNTR in eNOS, rs1050829 in G6PD, -3.7kb α-thalassemic deletion in HBA, rs1800457 in CYB5R3, Hp 1/2 genotype/phenotype in Hp and intron 16 I/D in ACE. Results: Frequencies of genotypes with the 4a allele in eNOS (p<0.001), the G allele in G6PD (p<0.001), the α-3.7 kb in HBA (p <0.001), the C allele in the CYB5R3 (p<0.001) were higher in Peri-equatorial Africa. The Hp 1.1 genotype of Hp has a higher frequency in Peri-equatorial Africa (p=0.002). ACE sho...
Genetic factors of alcoholism influence the phenotypic heterogeneity of alcohol dependence, allow... more Genetic factors of alcoholism influence the phenotypic heterogeneity of alcohol dependence, allowing the higher or lower expression of related aggressive behaviours. The pathogenesis of alcoholism and anti-social behaviour has been connected to serotonergic system dysfunction, given support to examine the association with 44-basepair insertion/deletion polymorphism of serotonin gene transporter (5-HTT). The study aims to assess the relationship between 5-HHTLPR polymorphism, aggressive behaviour and alcohol consumption pattern. There were recruited 97 alcohol dependent patients from the alcoholism unit (Etilo-Risco) of the Psychiatric Service of Santa Maria Hospital. Blood for DNA extraction and clinical and behavioural information was collected during the therapeutic program. Regarding 5-HTTLPR polymorphism prevalence in alcoholic population, 30.7% were homozygotic to l allele, 19.8% were homozygotic to s allele and 49.5% were heterozygotic l/s. Alcoholic patients carrying the l al...
Aguiar L1,2,3, Matos A1,2,3, Gil A1,2,3, Ferreira J1,2,3, Alonso I1,2,3, Rebelo I4,5, Braga L6, A... more Aguiar L1,2,3, Matos A1,2,3, Gil A1,2,3, Ferreira J1,2,3, Alonso I1,2,3, Rebelo I4,5, Braga L6, Almeida S7, Kjollerstrom P6, Faustino P3,8, Bicho M1,2,3, Inácio A1,2,3 1Instituto De Investigação Científica Bento Da Rocha Cabral, Lisboa 2Laboratório de Genética, Faculdade de Medicina da Universidade de Lisboa, Lisboa 3Instituto de Saúde Ambiental, Faculdade de Medicina da Universidade de Lisboa, Lisboa 4Departamento de Bioquímica, Faculdade de Farmácia da Universidade do Porto, Porto 5Instituto de Biologia Molecular e Celular, Porto 6Unidade de Hematologia, Hospital de Dona Estefânia, Lisboa 7Serviço de Genética Médica, Hospital de Dona Estefânia, Lisboa 8Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa
Background. Cardiovascular risk (CVR) underlies aging process and longevity. Previous work points... more Background. Cardiovascular risk (CVR) underlies aging process and longevity. Previous work points to genetic and environmental factors associated with this risk.Objectives. The aim of this research is to look for any CVR gene-gene and gene-multifactorial/lifestyle interactions that may impact health and disease and underlie exceptional longevity.Methods. A case-control study involving 521 both gender individuals, 253 centenarians (100.26±1.98years), and 268 controls (67.51±3.25years), low (LCR,n=107) and high (HCR,n=161) CVR. Hypertension, diabetes, obesity (BMI, kg·m-2), and impaired kidney function were defined according to standard criteria. CVR was calculated using Q risk®. DNA was genotyping (ACE-rs4646994,AGT-rs4762,AGR1-rs5182,GRK4-rs2960306,GRK4-rs1024323,NOS3-rs1799983, andSLC12A3-rs13306673) through iPlex-MassARRAY®, read by MALDI-TOF mass spectrometry, and analyzed by EARTDECODE®.Results. Antilongevity factors consisted (OR 95% CI,p<0.05) BMI 1.558 (1.445-1.680), hyper...
INTRODUÇÃO: A metilenotetrahidrofolato redutase (MTHFR) cataliza a redução irreversível do folato... more INTRODUÇÃO: A metilenotetrahidrofolato redutase (MTHFR) cataliza a redução irreversível do folato que cede grupos metil para a síntese de metionina a partir da homocisteína. São escassos os dados epidemiológicos de distribuição do polimorfismo C677T da MTHFR em diabéticos tipo 2 portugueses com e sem angiopatia. Conhecer a variação polimórfica desta enzima e sua relação com outros factores de risco cardiovascular pode ajudar a definir medidas de prevenção e contribuir para a diminuição de gastos em saúde pública. OBJECTIVO: Avaliar a distribuição do polimorfismo C677T da MTHFR em diabéticos tipo 2 com e sem angiopatia e relacionar com a prevalência de hiperhomocisteinémia e hipercisteinémia. MÉTODOS: Estudo caso-controlo em 134 adultos de ambos os géneros com idades entre 40-75 anos. Foram constituídos dois grupos: I - 69 diabéticos tipo 2 com angiopatia; II - 65 diabéticos tipo 2 sem angiopatia. As concentrações plasmáticas de homocisteína e cisteína foram obtidas por um método de ...
There is a clear association between the excessive and cumulative exposure to estrogens and the d... more There is a clear association between the excessive and cumulative exposure to estrogens and the development of cancer in hormone-sensitive tissues, such as the cervix. We studied the association ofCYP1A1 M1(rs4646903) andCOMT(rs4680) polymorphisms in 130 cervical cancer cases (c-cancer) and 179 controls. TheCYP1A1TT genotype was associated with a lower risk for c-cancer (OR = 0.39,p=0.002). The allele C ofCYP1A1was a risk for c-cancer (OR = 2.29,p=0.002). Women withCOMT LLgenotype had a higher risk of developing c-cancer (OR = 4.83,p<0.001). For the interaction of theCYP1A1&COMT, we observed that TC&HL genotypes had a greater risk for c-cancer (OR = 6.07,p=0.006) and TT&HL genotypes had a protection effect (OR = 0.24,p<0.001). TheCYP1A1 TTandCOMT LLgenotypes had higher estradiol levels in c-cancer (p<0.001andp=0.037, resp.). C-cancer is associated with less production of 2-methoxy-estradiol resultant of functional polymorphisms ofCYP1A1andCOMT, separately.CYP1A1andCOMTwork ...
The gene TAS2R38 single nucleotide polymorphisms (SNPs-P49A, A262V and V296I) can condition bitte... more The gene TAS2R38 single nucleotide polymorphisms (SNPs-P49A, A262V and V296I) can condition bitter tasting by PAV (proline–alanine–valine) and non-bitter-tasting by AVI (alanine–valine–isoleucine) homozygosity. We evaluated this polymorphisms association with thyroid function, metabolism and anthropometry parameters determined by: Endpoint analysis (SNPs); DXA (fat mass-%, total fat mass—kg, lean mass—kg); Standard methods (lipid metabolism parameters, HbA1c-%, glycemia—mg/dL, insulinemia—µIU/mL, HOMA-IR, uricemia—mg/dL, calcemia—mg/dL and BMI—kg/m2); ELISA (leptinemia—ng/mL); Spectrophotometry (Angiotensin Converting Enzyme activity—UI/L). Statistics: SPSS program; OR [IC95%]; p < 0.05. Sample: 114 hypothyroid, 49 hyperthyroid, and 179 controls. An association between A262V-valine–valine and hypothyroidism/hyperthyroidism was verified (OR = 2.841; IC95% [1.726–4.676]), p < 0.001/OR = 8.915; IC95% [4.286–18.543]), p < 0.001). Protector effect from thyroid dysfunction: A262V...
Psoriasis is a multifactorial disease, with many genetic risk factors, one of which seems to be t... more Psoriasis is a multifactorial disease, with many genetic risk factors, one of which seems to be the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism. ACE activity has been shown to be higher in psoriatic patients and it suggests an oxidative stress state, as seen in many cardiovascular disorders. We aimed to explore the association between ACE activity and polymorphisms and cardiovascular risk amongst psoriatic patients. We included 64 psoriatic patients and 1091 controls and compared ACE I/D polymorphism genotype and serum activity for both groups. ACE genotypes were similar in psoriatic patients and controls. Notably, serum ACE activity was higher in psoriatic patients (19.09 ± 2.86 U/mL) compared to controls (11.85 ± 0.40 U/mL), p = 0.015. Non-HDL cholesterol was significantly lower in II polymorphism (p = 0.037). Psoriatic activity (PASI) was associated with a higher cardiovascular risk estimated by lower HDL concentrations (r = −0.496, p = 0.007), and h...
The two antagonistic systems of angiotensin converting enzyme (ACE)-1 and ACE-2 are in the “eye o... more The two antagonistic systems of angiotensin converting enzyme (ACE)-1 and ACE-2 are in the “eye of the hurricane” of severe acute respiratory syndrome coronavirus (SARS-CoV-2). The receptor of the SARS-CoV-2 is the same as ACE-2, which causes its under-expression after binding it, followed by the internalization of the complex virus-ACE-2. ACE-2 have multiple functions with specially relevance in cardiovascular diseases. Furthermore, the non-enzymatic role of ACE-2 gives rise to a Hartnup disease, a phenocopy involving microbiota. With this chapter, we intent to explore the key pathways involved in SARS-CoV-2 infection, from the host perspective, considering our hypothesis related to transporter of neutral amino acids, which includes tryptophan precursor of serotonin and kynurenine.
Abstract Hypertension is a multifactorial condition of genetic and environmental nature. In Portu... more Abstract Hypertension is a multifactorial condition of genetic and environmental nature. In Portugal the mean prevalence of hypertension in the population is 45.5%. The aim of this study is to evaluate the contribution of anthropometric, physiological and genetic factors (eNOS and ACE) to the development of hypertension in a Portuguese population. A case-control study was conducted in a sample of 377 individuals, 243 hypertensives and 134 normotensives. The polymorphic analyses of intron 4 VNTR in the eNOS gene and the insertion/deletion (I/D) in ACE gene were performed by polymerase chain reaction (PCR). Higher body mass index (BMI) values, higher glycemia and HOMA -IR levels and the 4a allele of the eNOS gene were associated with hypertension. Among the hypertensive group, the allele 4a (eNOS) was associated with higher levels of HbA1c, and the D allele (ACE) with higher glycemia and HOMA-IR levels. Our results highlight the contribution of eNOS and ACE genes as important players for development of hypertension in the Portuguese population. We believe that a combinatory clinical approach including the traditional anthropomorphic and physiological parameters together with target specific genetic analysis, can be more elucidative in establishing a susceptibility profile on multifactorial conditions as hypertension.
Obesity among children has emerged as a serious public health problem. The growing prevalence of ... more Obesity among children has emerged as a serious public health problem. The growing prevalence of childhood obesity has led to the appearance of serious complications, including a chronic systemic inflammation associated with oxidative stress. In the present study, we analysed the interaction between two genes related with iron metabolism - HFE and haptoglobin – and the plasmatic concentration of glutathione, as a way to evaluate the antioxidant response capacity in obesity. To achieve this, 118 obese children and 89 eutrophic children were recruited for the study. Results showed that although obese children present a significantly decreased tGSH levels, once we analysed separately children based on their haptoglobin phenotype, the decreased tGSH levels is significant only for the Hp 2 allele. Additionally, Hp 2.2 obese children carrying H63D polymorphism show significantly lower tGSH/GSSG values. Our results found an association of haptoglobin and HFE with oxidative stress in child...
Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, 2008
Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and... more Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and impaired systolic function, that in more than 30% of cases has a familial or genetic origin. Given its age-dependent penetrance, DCM frequently manifests in adults by signs or symptoms of heart failure, arrhythmias or sudden death. The predominant mode of inheritance is autosomal dominant, and in these cases mutations are identified in genes coding for cytoskeletal, sarcomeric or nuclear envelope proteins. To date, most studies aimed at molecular diagnosis of DCM have been in selected families, or in larger groups of patients, but screening for mutations in a limited number of genes. Consequently, the epidemiology of mutations in familial DCM remains unknown. There is thus a need for multicenter studies, involving screening for a wide range of mutations in several families and in cases of idiopathic DCM. The present article describes the methodology of a multicenter study, aimed at clin...
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