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1.
Anticancer Res ; 39(10): 5525-5530, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31570446

RESUMO

BACKGROUND/AIM: Basal cell carcinoma (BCC) has been genetically associated with an increased expression of angiotensin-converting enzyme (ACE), an important factor of the renin-angiotensin system which produces vasoconstrictor angiotensin II. Other factors of this system include angiotensinogen (AGT) and angiotensin receptors AGTR1, AGTR2. We investigated the possible association of BCC with genetic variability in the AGT, AGTR1 and AGTR2 genes. MATERIALS AND METHODS: DNA samples of 190 Greeks were studied, including 91 patients with BCC and 99 matched healthy controls. Molecular genotyping of patients and controls was performed for the polymorphisms AGT M235T, AGTR1 A1166C and AGTR2 G1675A. RESULTS: The mutant T allele that increases AGT gene expression was detected in two-fold increased frequency in BCC patients in comparison to healthy controls (p <0.001). On the contrary, no significant difference was observed in AGTR1 and AGTR2 variants between patients and controls. CONCLUSION: Increased expression of AGT may be associated with BCC.


Assuntos
Carcinoma Basocelular/genética , Predisposição Genética para Doença/genética , Polimorfismo Genético/genética , Neoplasias Cutâneas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Angiotensinogênio/genética , Estudos de Casos e Controles , Linhagem Celular Tumoral , Feminino , Frequência do Gene/genética , Humanos , Masculino , Pessoa de Meia-Idade , Receptor Tipo 1 de Angiotensina/genética , Receptor Tipo 2 de Angiotensina/genética
2.
Exp Suppl ; 111: 3-19, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31588524

RESUMO

Genetics is the study of heredity. In this introductory chapter of the book Genetics of Endocrine Diseases and Syndromes, we present the basic terms of genetics and basic physiological and pathogenic molecular processes that are implicated in the wide array of genetically determined diseases. Mutations, chromosomes, polymorphisms, and epigenetic terms are also briefly discussed.


Assuntos
Cromossomos Humanos/genética , Doenças do Sistema Endócrino/genética , Hereditariedade , Polimorfismo Genético , Epigênese Genética , Humanos , Mutação
3.
Cancer Res ; 79(19): 4808-4810, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31575627

RESUMO

In this issue of Cancer Research, Wang and colleagues identify a large number of regulatory sites within the genomes of non-small cell lung cancers with a global scan for open chromatin (assaying for transposase-accessible chromatin with sequencing). They show that this type of profiling might substitute RNA sequencing in classifying lung cancer samples and in making predictions about prognosis. They also show experimentally that genome editing of some regulatory sites upregulates the expression of GSTM1 and GSTT1, which are required for detoxification of carcinogens and whose low expression levels are associated with lung cancer risk.See related article by Wang et al., p. 4840.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Estudos de Casos e Controles , Genótipo , Humanos , Polimorfismo Genético
4.
Anticancer Res ; 39(10): 5375-5380, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31570432

RESUMO

BACKGROUND/AIM: Matrix metalloproteinases-11 (MMP-11) overexpression has been reported in various types of cancer including lung cancer. We aimed to examine the contribution of MMP-11 genotypes to lung cancer risk. MATERIALS AND METHODS: In this case-control study, the MMP-11 rs738791, rs2267029, rs738792 and rs28382575 genotypes were determined among 358 lung cancer patients and 716 age- and gender-matched healthy control Taiwanese. RESULTS: The percentages of rs738791 CT and TT were 50.6% and 9.2% in the case group, slightly higher than 48.5% and 8.1% in the control group (p for trend=0.5638). The allelic analysis showed that the rs738791 T allele did not confer lung cancer risk compared with the C allele. Similarly, there was no association between rs2267029, rs738792 or rs28382575 and lung cancer risk. There was no joint effect of MMP-11 genotypes among ever smokers or non-smokers. CONCLUSION: The genotypes of MMP-11 play a minor role in determining lung cancer risk in Taiwan.


Assuntos
Predisposição Genética para Doença/genética , Neoplasias Pulmonares/genética , Metaloproteinase 11 da Matriz/genética , Polimorfismo Genético/genética , Regiões Promotoras Genéticas/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Taiwan
5.
Zhonghua Jie He He Hu Xi Za Zhi ; 42(10): 760-764, 2019 Oct 12.
Artigo em Chinês | MEDLINE | ID: mdl-31594110

RESUMO

Objective: To explore the difference of mRNA, protein expression levels and the indexes of peripheral blood antioxidant capacity in peripheral blood lymphocytes of different EPHX1 genotypes in chronic obstructive pulmonary disease(COPD). Methods: A case-control study was conducted to collect peripheral blood samples of 220 stable chronic COPD patients with smoking history and 230 healthy smokers (control group) from October 2016 to February 2018 in the First Affiliated Hospital of Kunming Medical University, and the genetic testing was carried out according to the operation instructions of BigDye Terminator v1.1 DNA Sequencing Kit. Based on their EPHX1 exon 3 and exon 4 polymorphism status, the EPHX1 was classified into 4 groups, i. e., normal activity, slow activity, extremely slow activity and fast activity. Then COPD patients were allocated to either a slow activity group (slow and very slow activity) or a fast activity group (normal and fast activity) according to EPHX1 genotype and gene activity. The expression of EPHX1 mRNA and protein in peripheral blood lymphocytes were detected by qRT-PCR and Western blot, and indexes of serum antioxidant capacity was detected by corresponding kits. Results: (1)The 2(-ΔΔCt) of the control group was 1.000, and the 2(-ΔΔCt) of the COPD group was 1.052±0.023. There was no significant difference in the level of EPHX1 mRNA expression between the two groups (t=1.992 P=0.865). The level of EPHX1 mRNA expression in the slow activity group was not different significantly compared to that in the fast-active group (1.053±0.023 vs 1.048±0.021, t=1.133, P=0.260). (2)The level of EPHX1 protein expression by Western blot analysis showed that the EHPX1/GAPDH gray ratio was not different significantly between the COPD group and the control group (0.613±0.089 vs 0.602±0.075, t=0.805, P=0.422). The level of EPHX1 protein expression in the slow activity group was not significantly different compared to that in the fast activity group (0.606±0.088 vs 0.622±0.092, t=-0.786 P=0.434). (3)There were significant differences in indexes of antioxidant capacity between the control group and the COPD group (P<0.05). There were significant differences in indexes of antioxidant capacity between the slow activity group and the fast activity group of COPD patients (P<0.05). Conclusions: The different antioxidant capacity of COPD patients with different EPHX1 genotypes may be related to the polymorphism of EPHX1 gene affecting the activity of microsomal epoxidase, but not to the level of EPHX1 mRNA and protein expression.


Assuntos
Antioxidantes/metabolismo , Grupo com Ancestrais do Continente Asiático/genética , Epóxido Hidrolases/genética , Doença Pulmonar Obstrutiva Crônica/genética , Fumar/efeitos adversos , Adulto , Western Blotting , Estudos de Casos e Controles , China/epidemiologia , Epóxido Hidrolases/metabolismo , Predisposição Genética para Doença/genética , Genótipo , Gliceraldeído-3-Fosfato Desidrogenase (Fosforiladora)/metabolismo , Humanos , Pessoa de Meia-Idade , Polimorfismo Genético , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Reação em Cadeia da Polimerase em Tempo Real , Fumar/epidemiologia
6.
Chem Biol Interact ; 313: 108840, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31585114

RESUMO

BACKGROUND AND OBJECTIVES: Clonidine has been clinically used to treat Tourette's syndrome for decades. There was research finding that clonidine possessed the best risk-benefit ratio, especially for patients associated with attention deficit hyperactivity disorder. CYP2D6 is a significant member of Cytochrome P450 enzymes. The genetic polymorphisms of CYP2D6 greatly affect the clinical effects of drugs even lead to side effects and medical malpractice. Our goal is to research the effect of CYP2D6 genetic polymorphism on the metabolism of clonidine and evaluate the functions of 22 CYP2D6 allelic variants in vitro, which were discovered in Chinese Han population recently. METHODS: This study was carried out through a mature incubation system. The wild-type CYP2D6*1 and 24 variants (CYP2D6*2, CYP2D6*10 and 22 novel CYP2D6 variants) were expressed in insect cells, and the catalytic activity of all the variants were assessed by substrate clonidine. Metabolite 4-OH clonidine was accurately detected via ultra-performance liquid-chromatography tandem mass spectrometry to evaluate the effect of CYP2D6 genetic polymorphism on the clonidine. RESULT: Among the 22 novel CYP2D6 variants, the intrinsic clearance (Vmax/Km) of 21 variants were significantly decreased (from 1.53% to 83.25%) compared to the wild-type. In particular, the following seven variants (CYP2D6* 2, CYP2D6* 10, CYP2D6* 93, CYP2D6* 95, E215K, V327 M and R497C) attract more attention, of which the intrinsic clearance decreased more than 70% compared to the wild-type. Because the variants with significantly reduced intrinsic clearance are more likely to cause adverse reactions than the variants with increased or little changed intrinsic clearance. In addition, the related pharmacokinetic parameters of CYP2D6*92 and CYP2D6*96 could not be acquired for the defect of CYP2D6 nucleotide. CONCLUSION: We comprehensively evaluated the effect of 22 novel CYP2D6 variants on the metabolism of clonidine for the first time and hoped corresponding data provide a reference for metabolism of clonidine for further studies in vivo, and extend our understanding of the clinical drug toxicity or ineffectiveness by CYP2D6 genetic polymorphism.


Assuntos
Clonidina/farmacocinética , Citocromo P-450 CYP2D6/genética , Grupo com Ancestrais do Continente Asiático/genética , Clonidina/metabolismo , Citocromo P-450 CYP2D6/metabolismo , Humanos , Polimorfismo Genético
7.
Arq Bras Cir Dig ; 32(3): e1448, 2019.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31644668

RESUMO

INTRODUCTION: Many published studies have estimated the association of rs2435357 and rs1800858 polymorphisms in the proto-oncogene rearranged during transfection (RET) gene with Hirschsprung disease (HSCR) risk. However, the results remain inconsistent and controversial. AIM: To perform a meta-analysis get a more accurate estimation of the association of rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene with HSCR risk. METHODS: The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and Chinese National Knowledge Infrastructure (CNKI) up to June 30, 2018. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to HSCR. RESULTS: A total of 20 studies, including ten (1,136 cases 2,420 controls) for rs2435357 and ten (917 cases 1,159 controls) for rs1800858 were included. The overall results indicated that the rs2435357 (allele model: OR=0.230, 95% CI 0.178-0.298, p=0.001; homozygote model: OR=0.079, 95% CI 0.048-0.130, p=0.001; heterozygote model: OR=0.149, 95% CI 0.048-0.130, p=0.001; dominant model: OR=0.132, 95% CI 0.098-0.179, p=0.001; and recessive model: OR=0.239, 95% CI 0.161-0.353, p=0.001) and rs1800858 (allele model: OR=5.594, 95% CI 3.653-8.877, p=0.001; homozygote model: OR=8.453, 95% CI 3.783-18.890, p=0.001; dominant model: OR=3.469, 95% CI 1.881-6.396, p=0.001; and recessive model: OR=6.120, 95% CI 3.608-10.381, p=0.001) polymorphisms were associated with the increased risk of HSCR in overall. CONCLUSIONS: The results suggest that the rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene might be associated with HSCR risk.


Assuntos
Doença de Hirschsprung/genética , Polimorfismo Genético/genética , Predisposição Genética para Doença , Doença de Hirschsprung/etnologia , Humanos , Proteínas Proto-Oncogênicas c-ret/genética , Sensibilidade e Especificidade
8.
Arq Bras Cir Dig ; 32(3): e1449, 2019.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31644669

RESUMO

INTRODUCTION: The matrix metalloproteinase-7 (MMP-7) gene -181A>G polymorphism has been reported to be associated with colorectal cancer (CRC) and gastric cancer (GC) susceptibility, yet the results of these previous results have been inconsistent or controversial. AIM: To elaborate a meta-analysis to assess the association of -181A>G polymorphism of MMP-7 with CRC and GC risk. METHODS: Published literature evaluating the association from PubMed, Web of Science, Google Scholar and other databases were retrieved up to April 25, 2018. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using random- or fixed-effects model. RESULTS: A total of 19 case-control studies, which included eleven studies on CRC (2,169 CRC cases and 2,346 controls) and eight studies on GC (1,545 GC cases and 2,366 controls) were identified. There was a significant association between MMP-7 -181A>G polymorphism and GC risk under the homozygote model (GG vs. AA: OR=1.672, 95% CI 1.161-2.409, p=0.006) and the recessive model (GG vs. GA+AA: OR=1.672, 95% CI 1.319-2.554, p=0.001), but not with CRC. By subgroup analysis based on ethnicity, an increased risk of CRC and GC was found only among Asians. CONCLUSIONS: This meta-analysis suggests that MMP-7 -181A>G polymorphisms is associated with GC risk, but not with CRC. However, our results clearly showed that the MMP-7 -181A>G polymorphism significantly increased the risk of CRC only in Asians.


Assuntos
Neoplasias Colorretais/genética , Predisposição Genética para Doença , Metaloproteinase 7 da Matriz/genética , Polimorfismo Genético/genética , Neoplasias Gástricas/genética , Grupo com Ancestrais do Continente Asiático/genética , Predisposição Genética para Doença/etnologia , Humanos , Razão de Chances , Fatores de Risco
9.
Zhongguo Zhong Yao Za Zhi ; 44(17): 3615-3621, 2019 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-31602931

RESUMO

The type and frequency of simple sequence repeats( SSRs) in the genomes was investigated using the DNA sequence data of Pueraria lobata and P. thomsonii. Based on these SSRs,20 pairs of SSR primers were designed and 5 high polymorphism primer pairs were selected to analyze genetic diversity of 9 cultivars of P. thomsonii in Jiangxi province. The results showed that the 5 pairs of primers could generate 16 polymorphic alleles bands. The average polymorphism information content( PIC) of each SSR primer pair was 0. 600 7.According to the genetic similarity coefficients,the 9 cultivars of P. thomsonii can be classified into 6 germplasms. This study established DNA identity cards with 5 pairs of SSR primers for different germplasm resources of P. thomsonii in Jiangxi province,which provided reference information for the selection of fine germplasms of P. thomsonii and the theoretical basis for the study of Dao-di herbs.


Assuntos
DNA de Plantas/genética , Repetições de Microssatélites , Pueraria/genética , China , Genômica , Polimorfismo Genético
10.
Medicine (Baltimore) ; 98(39): e17167, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574823

RESUMO

BACKGROUND: The association between plasma interleukin-6 (IL-6) levels and the development of febrile seizures (FS) has been reported in multiple previous studies, which showed significantly higher serum IL-6 levels in FS patients than in control patients. However, the mechanism underlying this association remains unclear. One previous study indicated an increased frequency of the -174 GG and -597 GG genotypes in FS patients. Although IL-6 gene polymorphisms may be associated with FS risk, this association remains a matter of debate. OBJECTIVE: Considering the lack of meta-analyses addressing the possible association between IL-6 gene polymorphisms and the risk of FS, we aimed to perform a meta-analysis to determine the association of IL-6 gene polymorphisms (-572, -174, -597) with the risk of FS. METHODS: We conducted a systematic literature search in the PubMed, EMBASE, and WANFANG databases to collect eligible articles. The associations of IL-6 gene polymorphisms with FS risk were evaluated by calculating the pooled odds ratios and 95% confidence intervals. The dominant, recessive, heterozygous, homozygous, and allele genetic models were used to calculate the combined ORs. RESULTS: Our meta-analysis showed that IL-6 (-572, -174, -597) polymorphisms were significantly associated with susceptibility to FS. CONCLUSION: This study provided knowledge regarding the association of IL-6 (572, 174, 597) polymorphisms with susceptibility to FS. The T allele and TT genotype may be associated with an increased risk for FS.


Assuntos
Predisposição Genética para Doença/genética , Interleucina-6/genética , Polimorfismo Genético , Convulsões Febris/genética , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Masculino , Razão de Chances , Fatores de Risco
11.
Gene ; 720: 144078, 2019 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-31473321

RESUMO

Short tandem repeats (STRs) are a widely utilized tool in forensic applications, the latter of which range from human identification and paternity testing to population analysis. The GlobalFiler STR loci, which includes 21 autosomal STRS, were analyzed in the Chechen subpopulation of Jordan. Whole blood samples were withdrawn from 159 Jordanian Chechen individuals, and genomic DNA was extracted from each sample. The GlobalFiler™ kit PCR Amplification Kit amplified and analyzed the STR loci on the 3130xl Genetic Analyzer using GeneMapper ID-X software. The combined match probability for the 21 autosomal STR loci was calculated to be 1.06 × 10-24, a number that is highly discriminatory and informative. The SE33 (0.983) and TPOX (0.806) loci exhibited the highest and lowest powers of discrimination, respectively. Conclusively, the current study indicates that the GlobalFiler loci have a high utility in the Jordanian Chechen population, possibly paving the way for the future establishment of a reference population database in Jordan.


Assuntos
DNA/análise , DNA/genética , Grupos Étnicos/genética , Genética Forense/estatística & dados numéricos , Genética Populacional , Repetições de Microssatélites , Polimorfismo Genético , Impressões Digitais de DNA , Feminino , Frequência do Gene , Loci Gênicos , Humanos , Masculino
12.
Zhonghua Xue Ye Xue Za Zhi ; 40(8): 662-666, 2019 Aug 14.
Artigo em Chinês | MEDLINE | ID: mdl-31495133

RESUMO

Objective: To establish a new method for chimerism analysis after allogeneic hematopoietic stem cell transplantation by using multiple nucleotide polymorphism sequencing (MNPseq) , and to explore its feasibility and superiority. Methods: One hundred MNP fragments were screened and chimeric analysis was performed by high-throughput sequencing technology. The accuracy and sensitivity of the method were verified by simulating chimeric samples and post-transplant samples and comparing them with short tandem repeat (STR) analysis, fusion gene quantitative detection and flow cytometry for minimal residual disease. Results: The accuracy and sensitivity of MNPseq were better than those of STR, in which the sensitivity could reach 0.01%, about 100 times more sensitive than STR. MNPseq could further distinguish 42 STR fully chimeric samples, and after corrected by cutoff value, it was correlated with the quantitative detection of fusion gene. MNPseq could correct false positive of STR caused by the shadow peak, and could be used to detect chimeric samples lacking pre-transplant information from donors and recipients. Conclusion: MNPseq analysis based on high-throughput sequencing is a more accurate and sensitive chimerism detection method, and it solves the problem that chimerism cannot be detected due to the lack of pre-transplant information, which has extremely high clinical application value.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Humanos , Polimorfismo Genético , Doadores de Tecidos , Quimeras de Transplante
15.
Rev Soc Bras Med Trop ; 52: e20190133, 2019 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-31508781

RESUMO

INTRODUCTION: Chagas disease (CD) is an important public health problem in Brazil and worldwide. Aging and obesity are important matters in patients with CD, as is hypovitaminosis D3, which can decrease the quality of life of these patients. Immunomodulation mediated by vitamin D3, especially the production of antimicrobial peptides such as cathelicidin LL-37, might be related to the severity and symptoms of CD. This study aimed to determine the serum levels of vitamin D and LL-37 and VDR gene polymorphisms in patients with chronic CD. METHODS: This study included male patients with cardiac and indeterminate clinical forms of CD. Clinical, anthropometric, and blood parameters were obtained. Serum levels of 25(OH)D3 and LL-37 were determined by chemiluminescence and enzyme-linked immunosorbent assay respectively. Fok (rs731236), Bsm (rs1544410), Apa (rs7975232), and Taq (rs731236) polymorphisms of the VDR gene were investigated by PCR-RFLP. RESULTS: Sixty-four patients were included in the study: 18 of the cardiac form and 46 of the indeterminate form. No differences in age, ethnicity, BMI, arterial hypertension, diabetes mellitus, or dyslipidemias were observed between groups. However, the serum levels of 25(OH)D3, but not of LL-37, were lower in the cardiac form group. The association among polymorphisms, vitamin D, and clinical form was not significant. CONCLUSIONS: Decreased levels of vitamin D suggest an association with the cardiac form of CD. Studies investigating the roles of vitamin D and LL-37 in the immune response and their associations with VDR polymorphisms and disease susceptibility are necessary.


Assuntos
Peptídeos Catiônicos Antimicrobianos/sangue , Doença de Chagas/sangue , Doença de Chagas/genética , Colecalciferol/sangue , Polimorfismo Genético/genética , Receptores de Calcitriol/genética , Biomarcadores/sangue , Humanos , Masculino , Pessoa de Meia-Idade
16.
An Acad Bras Cienc ; 91(3): e20180749, 2019 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-31531533

RESUMO

Due to the increasing search for renewable resources, plant fibers have become an alternative when creating new products. Studies demonstrate the potential use of pineapple fibers in composites. The objective of this work was to evaluate the genetic diversity and verify any association between ISSR (Inter Simple Sequence Repeats) bands and quality of pineapple fibers for use in cements in the civil construction. The study analyzed the genetic variability of 11 pineapple genotypes, as well as the possible association of 131 bands from 16 ISSR markers with fiber quality characteristics. Eleven bands were selected based on their high correlations (0.64578* to 0.72457*) with three fiber quality variables. Of these, two bands were purified, sequenced, and blasted against sequences in GenBank at NCBI. These markers can be used in marker assisted selection to genetically improve the quality of pineapple fiber. Bands that returned no hits in the NCBI BLAST search can be deposited as new sequences in the GenBank. Therefore, the SCAR markers, once validated, can be useful in pineapple genetic breeding programs worldwide by using molecular marker assisted selection for fiber resistance, which could subsidize the development of more promising genotypes for industrial use and contribute to the sustainability of this new production sector.


Assuntos
Ananas/genética , Marcadores Genéticos , Repetições de Microssatélites/genética , Cruzamento , Variação Genética , Genótipo , Filogenia , Polimorfismo Genético , Estatísticas não Paramétricas
17.
Orv Hetil ; 160(39): 1554-1562, 2019 Sep.
Artigo em Húngaro | MEDLINE | ID: mdl-31544495

RESUMO

Introduction and aim: Earlier results in the literature suggest that overweight subjects show weaker performance in executive function tasks as compared to normal weight people. Dopaminergic system is strongly linked to executive functions, body mass regulation and ingestion. The aim of the present study was to examine the possible relationship between DRD4 VNTR 7-repeat allele, body mass index and Stroop performance in a healthy adult population, and to draw psychogenetic conclusions. Method: 152 subjects without diabetic or psychiatric history participated in the study. Along with non-invasive DNA sampling, demographic, weight and height data were collected. The participants also solved the computerized Stroop task. 11 subjects belonged to the underweight (mean body mass index = 17.9 kg/m2), 98 subjects to the normal (mean body mass index = 21.8 kg/m2), and 43 subjects to the overweight (mean body mass index = 28.9 kg/m2) category. After grouping participants according to their body mass index and DRD4 VNTR genotype, we compared their mean performance to investigate the possible psychogenetic associations. Results: Body mass index and stimuli type showed significant interaction on error number (p = 0.045): subjects with normal body mass index made significantly less error as compared to under- and overweight subjects in incongruent trials. The 7-repeat allele carriers made tendentiously more errors than non-carriers. Normal weight people made less error - independently from their genotype -, while subjects with either low or high BMI carrying the 7-repeat allele made more errors compared to non-carriers. Conclusion: Under- and overweight subjects perform weaker where inhibition is necessary in the task. This may reflect their reactions to food-related situations. Orv Hetil. 2019; 160(39): 1554-1562.


Assuntos
Alelos , Índice de Massa Corporal , Função Executiva/fisiologia , Polimorfismo Genético , Receptores de Dopamina D4/genética , Adulto , Genética Comportamental , Genótipo , Humanos , Repetições Minissatélites , Receptores de Dopamina D4/efeitos dos fármacos , Receptores de Dopamina D4/metabolismo
18.
Arch Endocrinol Metab ; 63(5): 501-508, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31482954

RESUMO

OBJECTIVE: To investigate the association of the genetic variants of the folate metabolism genes (MTHFR C677T; MTHFR A1298C; MTR A2756G; MTRR A66G and RFC-1 A80G) with the development of polycystic ovary syndrome (PCOS). SUBJECTS AND METHODS: This study included 203 women (99 women with PCOS and 104 controls). The genotyping was performed by PCR-RFLP. Chi-squared test and multiple logistic regression were used in the statistical analysis. Haplotype analysis was conducted using the SNPstat program. The results were presented in odds ratio (OR) and confidence interval of 95% (CI-95%), with a significance level of 5% (p ≤ 0.05). RESULTS: The genotypic distribution of the RFC-1 A80G polymorphism showed significant difference between the two groups, showing that the heterozygous genotype (AG genotype) was most frequent in controls. The polymorphic homozygous (GG genotype) of MTRR A66G polymorphism were most frequent in controls. The T-C haplotype MTHFR C677T and A1298C polymorphisms were more frequent in the control group (OR = 0.19; CI 95% - 0.04 to 0.93 e p = 0.042). The multivariate analysis evidenced that family history of PCOS was more frequent in the PCOS group (OR = 3.29; CI 95% - 1.48 to 7.31; p = 0.003). CONCLUSION: In our casuistry, the polymorphic homozygous of MTRR A66G polymorphism gene and heterozygous of RFC-1 A80G polymorphism gene, the haplotype T-C C677T and A1298C polymorphisms of MTHFR gene, can be associated with protective factors for the disease.


Assuntos
Ácido Fólico/genética , Síndrome do Ovário Policístico/genética , Polimorfismo Genético/genética , Adulto , Estudos de Casos e Controles , Feminino , Ácido Fólico/metabolismo , Predisposição Genética para Doença , Genótipo , Humanos , Síndrome do Ovário Policístico/metabolismo , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Adulto Jovem
19.
Medicine (Baltimore) ; 98(37): e17136, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31517853

RESUMO

BACKGROUND: DRD2 TaqIA polymorphism may be associated with an increased risk of developing Parkinson disease (PD). However, the individual study's results are still inconsistent. METHODS: A meta-analysis of 4232 cases and 4774 controls from 14 separate studies were performed to explore the possible relationship between the DRD2 TaqIA gene polymorphism and PD. Pooled odds ratios (ORs) for the association and the corresponding 95% confidence intervals (CIs) were evaluated by a fixed-effect model. RESULTS: The pooled results revealed a significant association between DRD2 gene TaqIA polymorphism under recessive genetic model (OR: 0.91, 95% CI:0.83,0.99, P = .031) and additive genetic models (OR:0.93,95%CI:0.87,0.99, P = .032), but not associated with PD susceptibility under other genetic models in the whole population. Moreover, subgroups based on ethnicity and genotyping methods showed this association in the Caucasian subgroup under recessive genetic model (OR: 0.85, 95% CI:0.76,0.95, P = .003) and additive genetic models (OR:0.87,95%CI:0.79,0.96, P = .004) were existed. Besides, no significant association was detected under 6 genetic models in the Asian populations and PCR-RFLP subgroup. CONCLUSIONS: The current meta-analysis suggested that a significant association between DRD2 TaqIA polymorphism and PD under the recessive genetic mode, and additive genetic models, especially in Caucasians.


Assuntos
Predisposição Genética para Doença , Doença de Parkinson/genética , Polimorfismo Genético , Receptores de Dopamina D2/genética , Humanos , Doença de Parkinson/etnologia
20.
Coluna/Columna ; 18(3): 236-239, July-Sept. 2019. tab
Artigo em Inglês | LILACS | ID: biblio-1019778

RESUMO

ABSTRACT The idiopathic scoliosis (IS) is the most common form of spinal deformity. The pathogenesis of IS is still poorly understood. Several studies show evidence that the genetic component is determinant to the development of IS. In this setting, a crescent focus has been placed on the identification of genes, associated genetic polymorphisms, and multiple susceptibility loci. This review highlights the genes and genetic polymorphisms currently studied, identified as influential in the genesis of IS, such as MMP-3, IL-6, type I collagen, and vitamin D and estrogen receptors. We concluded that IS remains a complex disease with a polygenic background and that genetic polymorphisms are intrinsically related to this condition. Level of evidence III; Narrative Review.


RESUMO A escoliose idiopática (EI) é a forma mais comum de deformidade da coluna vertebral. Porém, a patogênese ainda permanece mal compreendida. Diversos estudos apresentam evidências que o componente genético no desenvolvimento da EI é determinante. Nesse sentido, um foco crescente foi colocado na identificação de genes, polimorfismos genéticos associados e múltiplos loci de susceptibilidade. A presente revisão destaca os genes e polimorfismos genéticos atualmente estudados, indicados como tendo influência na gênese da EI, como os genes MMP-3, IL-6, do colágeno tipo 1, de receptores de vitamina D e de estrógenos. Conclui-se que a EI permanece uma doença complexa, com antecedentes poligênicos, e que os polimorfismos genéticos estão intrinsecamente relacionados à esta condição . Nível de evidência III; Revisão Narrativa.


RESUMEN La escoliosis idiopática (EI) es la forma más común de deformidad de la columna vertebral. La patogénesis de la EI sigue siendo poco conocida. Varios estudios presentan evidencias de que el componente genético en el desarrollo de la EI es determinante. En ese sentido, existe un creciente enfoque en la identificación de genes, polimorfismos genéticos asociados y loci de susceptibilidad múltiples. La presente revisión destaca los genes y polimorfismos genéticos actualmente estudiados, identificados como influyentes en la génesis de la EI, como los genes MMP-3, IL-6, colágeno tipo 1 y receptores de vitamina D y de estrógeno. Se concluye que la EI sigue siendo una enfermedad compleja con antecedentes poligénicos y que los polimorfismos genéticos están intrínsecamente relacionados con esta condición . Nivel de evidencia III; Revisión Narrativa.


Assuntos
Humanos , Polimorfismo Genético , Escoliose , Coluna Vertebral , Adolescente , Genética
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