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[PMID]:28426286
[Au] Autor:Ségurel L; Bon C
[Ad] Endereço:Laboratoire Éco-Anthropologie et Ethnobiologie, UMR 7206 CNRS - Muséum national d'Histoire naturelle - Univ Paris Diderot, Sorbonne Paris Cité, F-75016 Paris, France; email: laure.segurel@mnhn.fr , celine.bon@mnhn.fr.
[Ti] Título:On the Evolution of Lactase Persistence in Humans.
[So] Source:Annu Rev Genomics Hum Genet;18:297-319, 2017 Aug 31.
[Is] ISSN:1545-293X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lactase persistence-the ability of adults to digest the lactose in milk-varies widely in frequency across human populations. This trait represents an adaptation to the domestication of dairying animals and the subsequent consumption of their milk. Five variants are currently known to underlie this phenotype, which is monogenic in Eurasia but mostly polygenic in Africa. Despite being a textbook example of regulatory convergent evolution and gene-culture coevolution, the story of lactase persistence is far from clear: Why are lactase persistence frequencies low in Central Asian herders but high in some African hunter-gatherers? Why was lactase persistence strongly selected for even though milk processing can reduce the amount of lactose? Are there other factors, outside of an advantage of caloric intake, that contributed to the selective pressure for lactase persistence? It is time to revisit what we know and still do not know about lactase persistence in humans.
[Mh] Termos MeSH primário: Evolução Molecular
Frequência do Gene
Intestinos/enzimologia
Lactase/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Animais
Regulação da Expressão Gênica
Genética Populacional
Seres Humanos
Lactose/metabolismo
Leite/metabolismo
Seleção Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.2.1.108 (Lactase); J2B2A4N98G (Lactose)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171018
[Lr] Data última revisão:
171018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170421
[St] Status:MEDLINE
[do] DOI:10.1146/annurev-genom-091416-035340


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[PMID]:28424184
[Au] Autor:Yao S; Hong CC; Bandera EV; Zhu Q; Liu S; Cheng TD; Zirpoli G; Haddad SA; Lunetta KL; Ruiz-Narvaez EA; McCann SE; Troester MA; Rosenberg L; Palmer JR; Olshan AF; Ambrosone CB
[Ad] Endereço:Departments of Cancer Prevention and Control and song.yao@roswellpark.org.
[Ti] Título:Demographic, lifestyle, and genetic determinants of circulating concentrations of 25-hydroxyvitamin D and vitamin D-binding protein in African American and European American women.
[So] Source:Am J Clin Nutr;105(6):1362-1371, 2017 Jun.
[Is] ISSN:1938-3207
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Vitamin D may have anticancer activities. The high prevalence of vitamin D deficiency in African Americans (AAs) may be a contributing factor to the cancer health disparities between AAs and European Americans (EAs). We compared concentrations of 25(OH)D and vitamin D-binding protein (VDBP) in AA and EA women and investigated determinants of the vitamin D-biomarker concentrations in both populations. We used data and biospecimens from 909 AA and 847 EA healthy control subjects from the Carolina Breast Cancer Study (CBCS) and the Women's Circle of Health Study (WCHS) in the African American Breast Cancer Epidemiology and Risk Consortium. We measured plasma 25(OH)D and VDBP concentrations in all participants and genotyped 67 vitamin D-related genes in AA women only. AA women had lower 25(OH)D concentrations than did EA women (mean ± SD: 14.2 ± 8.1 compared with 21.1 ± 11.5 ng/mL, respectively; < 0.0001) but similar concentrations of VDBP (mean ± SD: 344 ± 133 compared with 336 ± 124 µg/mL, respectively; = 0.25). With VDBP and other factors controlled for, the observed racial difference in 25(OH)D concentrations did not diminish. Relations of demographic and lifestyle factors with 25(OH)D were similar between AA and EA women. Although none of the genetic variants that have been identified in previous genome-wide association studies of 25(OH)D concentrations in EAs were significant ( > 0.05) in AAs, AA women who carried the allele of a functional single nucleotide polymorphism rs4988235, which has been previously associated with lactase expression and lactose tolerance, had higher dietary vitamin D intake and higher measured 25(OH)D concentrations. AA women have lower concentrations of total 25(OH)D than EA women do, but both groups have similar VDBP concentrations, suggesting that there are lower concentrations of free 25(OH)D in AAs. Although demographic and lifestyle determinants of 25(OH)D concentrations are similar between the 2 groups, genetic determinants may be ethnicity specific. Larger studies in AAs will be needed to fully elucidate the underlying determinants of low vitamin D concentrations in AA populations.
[Mh] Termos MeSH primário: Afroamericanos/genética
Dieta
Grupo com Ancestrais do Continente Europeu/genética
Genótipo
Deficiência de Vitamina D/sangue
Proteína de Ligação a Vitamina D/sangue
Vitamina D/análogos & derivados
[Mh] Termos MeSH secundário: Adulto
Demografia
Feminino
Estudo de Associação Genômica Ampla
Seres Humanos
Lactase/sangue
Intolerância à Lactose/genética
Estilo de Vida
Meia-Idade
Polimorfismo de Nucleotídeo Único
Estados Unidos
Vitamina D/sangue
Deficiência de Vitamina D/genética
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Vitamin D-Binding Protein); 1406-16-2 (Vitamin D); 64719-49-9 (25-hydroxyvitamin D); EC 3.2.1.108 (Lactase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170421
[St] Status:MEDLINE
[do] DOI:10.3945/ajcn.116.143248


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[PMID]:28421381
[Au] Autor:Bayless TM; Brown E; Paige DM
[Ad] Endereço:Meyerhoff Digestive Diseases-Inflammatory Bowel Disease Center, Gastroenterology Division, Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD, 21287, USA. tbayless@jhmi.edu.
[Ti] Título:Lactase Non-persistence and Lactose Intolerance.
[So] Source:Curr Gastroenterol Rep;19(5):23, 2017 May.
[Is] ISSN:1534-312X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE OF REVIEW: To evaluate the clinical and nutritional significance of genetically determined lactase non-persistence and potential lactose and milk intolerance in 65-70% of the world's adult population. RECENT FINDINGS: Milk consumption is decreasing in the USA and is the lowest in countries with a high prevalence of lactase non-persistence. The dairy industry and Minnesota investigators have made efforts to minimize the influence of lactose intolerance on milk consumption. Some lactose intolerant individuals, without co-existent irritable bowel syndrome, are able to consume a glass of milk with a meal with no or minor symptoms. The high frequency of lactase persistence in offspring of Northern European countries and in some nomadic African tribes is due to mutations in the promoter of the lactase gene in association with survival advantage of milk drinking. Educational and commercial efforts to improve calcium and Vitamin D intake have focused on urging consumption of tolerable amounts of milk with a meal, use of lowered lactose-content foods including hard cheeses, yogurt, and lactose-hydrolyzed milk products.
[Mh] Termos MeSH primário: Lactase/metabolismo
Intolerância à Lactose/genética
[Mh] Termos MeSH secundário: Animais
Laticínios
Regulação para Baixo/genética
Seres Humanos
Síndrome do Intestino Irritável/dietoterapia
Síndrome do Intestino Irritável/etiologia
Lactase/genética
Intolerância à Lactose/complicações
Intolerância à Lactose/dietoterapia
Intolerância à Lactose/enzimologia
Leite
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.2.1.108 (Lactase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170420
[St] Status:MEDLINE
[do] DOI:10.1007/s11894-017-0558-9


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[PMID]:28419503
[Au] Autor:Teramura H; Sota K; Iwasaki M; Ogihara H
[Ad] Endereço:Yokohama Research Center, JNC Corporation, Yokohama, Japan.
[Ti] Título:Comparison of the quantitative dry culture methods with both conventional media and most probable number method for the enumeration of coliforms and Escherichia coli/coliforms in food.
[So] Source:Lett Appl Microbiol;65(1):57-65, 2017 Jul.
[Is] ISSN:1472-765X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Sanita-kun™ CC (coliform count) and EC (Escherichia coli/coliform count), sheet quantitative culture systems which can avoid chromogenic interference by lactase in food, were evaluated in comparison with conventional methods for these bacteria. Based on the results of inclusivity and exclusivity studies using 77 micro-organisms, sensitivity and specificity of both Sanita-kun™ met the criteria for ISO 16140. Both media were compared with deoxycholate agar, violet red bile agar, Merck Chromocult™ coliform agar (CCA), 3M Petrifilm™ CC and EC (PEC) and 3-tube MPN, as reference methods, in 100 naturally contaminated food samples. The correlation coefficients of both Sanita-kun™ for coliform detection were more than 0·95 for all comparisons. For E. coli detection, Sanita-kun™ EC was compared with CCA, PEC and MPN in 100 artificially contaminated food samples. The correlation coefficients for E. coli detection of Sanita-kun™ EC were more than 0·95 for all comparisons. There were no significant differences in all comparisons when conducting a one-way analysis of variance (anova). Both Sanita-kun™ significantly inhibited colour interference by lactase when inhibition of enzymatic staining was assessed using 40 natural cheese samples spiked with coliform. Our results demonstrated Sanita-kun™ CC and EC are suitable alternatives for the enumeration of coliforms and E. coli/coliforms, respectively, in a variety of foods, and specifically in fermented foods. SIGNIFICANCE AND IMPACT OF THE STUDY: Current chromogenic media for coliforms and Escherichia coli/coliforms have enzymatic coloration due to breaking down of chromogenic substrates by food lactase. The novel sheet culture media which have film layer to avoid coloration by food lactase have been developed for enumeration of coliforms and E. coli/coliforms respectively. In this study, we demonstrated these media had comparable performance with reference methods and less interference by food lactase. These media have a possibility not only to be useful alternatives but also to contribute for accurate enumeration of these bacteria in a variety of foods, and specifically in fermented foods.
[Mh] Termos MeSH primário: Contagem de Colônia Microbiana/métodos
Meios de Cultura/química
Escherichia coli/crescimento & desenvolvimento
Contaminação de Alimentos/análise
Microbiologia de Alimentos/métodos
[Mh] Termos MeSH secundário: Ágar/química
Técnicas de Cultura
Lactase/metabolismo
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Culture Media); 9002-18-0 (Agar); EC 3.2.1.108 (Lactase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170419
[St] Status:MEDLINE
[do] DOI:10.1111/lam.12744


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[PMID]:28302601
[Au] Autor:Ding M; Huang T; Bergholdt HK; Nordestgaard BG; Ellervik C; Qi L; CHARGE Consortium
[Ad] Endereço:Department of Nutrition, Harvard School of Public Health, Boston, MA, USA.
[Ti] Título:Dairy consumption, systolic blood pressure, and risk of hypertension: Mendelian randomization study.
[So] Source:BMJ;356:j1000, 2017 03 16.
[Is] ISSN:1756-1833
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: To examine whether previous observed inverse associations of dairy intake with systolic blood pressure and risk of hypertension were causal. Mendelian randomization study using the single nucleotide polymorphism rs4988235 related to lactase persistence as an instrumental variable. CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Consortium. Data from 22 studies with 171 213 participants, and an additional 10 published prospective studies with 26 119 participants included in the observational analysis. The instrumental variable estimation was conducted using the ratio of coefficients approach. Using meta-analysis, an additional eight published randomized clinical trials on the association of dairy consumption with systolic blood pressure were summarized. Compared with the CC genotype (CC is associated with complete lactase deficiency), the CT/TT genotype (TT is associated with lactose persistence, and CT is associated with certain lactase deficiency) of (lactase persistence gene) rs4988235 was associated with higher dairy consumption (0.23 (about 55 g/day), 95% confidence interval 0.17 to 0.29) serving/day; P<0.001) and was not associated with systolic blood pressure (0.31, 95% confidence interval -0.05 to 0.68 mm Hg; P=0.09) or risk of hypertension (odds ratio 1.01, 95% confidence interval 0.97 to 1.05; P=0.27). Using rs4988235 as the instrumental variable, genetically determined dairy consumption was not associated with systolic blood pressure (ß=1.35, 95% confidence interval -0.28 to 2.97 mm Hg for each serving/day) or risk of hypertension (odds ratio 1.04, 0.88 to 1.24). Moreover, meta-analysis of the published clinical trials showed that higher dairy intake has no significant effect on change in systolic blood pressure for interventions over one month to 12 months (intervention compared with control groups: ß=-0.21, 95% confidence interval -0.98 to 0.57 mm Hg). In observational analysis, each serving/day increase in dairy consumption was associated with -0.11 (95% confidence interval -0.20 to -0.02 mm Hg; P=0.02) lower systolic blood pressure but not risk of hypertension (odds ratio 0.98, 0.97 to 1.00; P=0.11). The weak inverse association between dairy intake and systolic blood pressure in observational studies was not supported by a comprehensive instrumental variable analysis and systematic review of existing clinical trials.
[Mh] Termos MeSH primário: Pressão Sanguínea
Laticínios
Comportamento Alimentar
Hipertensão/epidemiologia
Lactase/genética
[Mh] Termos MeSH secundário: Pressão Sanguínea/genética
Comportamento Alimentar/fisiologia
Predisposição Genética para Doença
Seres Humanos
Hipertensão/genética
Hipertensão/fisiopatologia
Análise da Randomização Mendeliana
Estudos Observacionais como Assunto
Polimorfismo de Nucleotídeo Único
Ensaios Clínicos Controlados Aleatórios como Assunto
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Nome de substância:
EC 3.2.1.108 (Lactase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170318
[St] Status:MEDLINE
[do] DOI:10.1136/bmj.j1000


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[PMID]:28132945
[Au] Autor:Delacour H; Leduc A; Louçano-Perdriat A; Plantamura J; Ceppa F
[Ad] Endereço:Département de biologie, Hôpital d'Instruction des armées Bégin, Saint Mandé, France.
[Ti] Título:Diagnosis of genetic predisposition for lactose intolerance by high resolution melting analysis.
[Ti] Título:Diagnostic de la prédisposition génétique à l'intolérance au lactose par une approche high resolution melting..
[So] Source:Ann Biol Clin (Paris);75(1):67-74, 2017 Feb 01.
[Is] ISSN:1950-6112
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:Lactose, the principle sugar in milk, is a disaccharide hydrolyzed by intestinal lactase into glucose and galactose, which are absorbed directly by diffusion in the intestine. The decline of lactase expression (or hypolactasia) in intestinal microvilli after weaning is a normal phenomenon in mammals known as lactase deficiency. It is observed in nearly 75% of the world population and is an inherited autosomal recessive trait with incomplete penetrance. It is caused by SNPs in a regulatory element for lactase gene. In Indo-European, lactase deficiency is associated with rs4982235 SNP (or -13910C>T). The aim of this study is to describe a method based on high resolution melting for rapidly detecting genetic predisposition to lactose intolerance. Analytical performance of the assay was assessed by evaluating within and betwwen-run precision and by comparing the results (n = 50 patients) obtained with the HRM assay to those obtained with the gold standard (Sanger sequencing of the region of interest). In silico prediction of HRM curves was performed to evaluate the potential impact of the other SNPs described within the PCR product on the HRM analytical performances. The assay has good performance (CV <0.2% during the between-run study). A perfect agreement with the gold standard method was observed. The presence of other polymorphisms within the amplified sequence is detected, the misclassification risk is low. This assay can be used for rapidly diagnosing genetic predisposition to lactose intolerance.
[Mh] Termos MeSH primário: Análise Mutacional de DNA/métodos
Lactase/genética
Intolerância à Lactose/diagnóstico
Intolerância à Lactose/genética
Reação em Cadeia da Polimerase/métodos
[Mh] Termos MeSH secundário: Adulto
Predisposição Genética para Doença
Genótipo
Seres Humanos
Desnaturação de Ácido Nucleico
Polimorfismo de Nucleotídeo Único
Reprodutibilidade dos Testes
Sensibilidade e Especificidade
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.108 (Lactase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170303
[Lr] Data última revisão:
170303
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170131
[St] Status:MEDLINE
[do] DOI:10.1684/abc.2016.1210


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[PMID]:27937006
[Au] Autor:Brasen CL; Frischknecht L; Ørnskov D; Andreasen L; Madsen JS
[Ad] Endereço:a Department of Clinical Immunology and Biochemistry , Lillebaelt Hospital , Vejle , Denmark.
[Ti] Título:Combination of real-time PCR and sequencing to detect multiple clinically relevant genetic variations in the lactase gene.
[So] Source:Scand J Clin Lab Invest;77(1):60-65, 2017 Feb.
[Is] ISSN:1502-7686
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Lactase persistence is an autosomal dominant trait commonly distributed in Europe as well as some parts of east Africa and the Arabian Peninsula. Using real-time PCR to detect the -13910C > T variant common in the European population is a reliable analysis although other variants in the probe-binding site may cause errors in analysis. The aim of this study was to determine the prevalence of the variants in a Danish cohort examined for lactose intolerance as well as to improve the real-time PCR analysis for detection of the different variants. METHODS: We genotyped 3395 routine samples using real-time PCR for the -13910C > T-variant. All consecutive samples identified as -13910CC were sequenced using Sanger Sequencing. Using the SDS software we examined various quality value settings to improve on the genetic analysis. RESULTS: Using real-time PCR resulted in 100% successful genotyping of the -13910C > T variant. By using a quality value of 99% and sequencing the undetermined samples we improved the ability of the assay to identify variants other than -13910C > T. This resulted in a reduction of the diagnostic error rate by a factor of 2.4 while increasing the expenses only 3%. CONCLUSIONS: We conclude that using a quality value of 99% in the SDS software significantly improves the diagnostic efficiency of the real-time PCR assay for detecting variants associated to lactase persistence.
[Mh] Termos MeSH primário: Lactase/genética
Intolerância à Lactose/diagnóstico
Intolerância à Lactose/genética
Polimorfismo de Nucleotídeo Único
Regiões Promotoras Genéticas
[Mh] Termos MeSH secundário: Alelos
Dinamarca/epidemiologia
Expressão Gênica
Frequência do Gene
Testes Genéticos
Genótipo
Seres Humanos
Lactase/deficiência
Intolerância à Lactose/epidemiologia
Intolerância à Lactose/fisiopatologia
Fenótipo
Prevalência
Reação em Cadeia da Polimerase em Tempo Real
Análise de Sequência de DNA
Software
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.108 (Lactase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE


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[PMID]:27863265
[Au] Autor:Ayoub FP; Caseli L
[Ad] Endereço:Institute of Environmental, Chemical and Pharmaceutical Sciences, Federal University of Sao Paulo, Brazil.
[Ti] Título:Controlling the molecular architecture of lactase immobilized in Langmuir-Blodgett films of phospholipids to modulate the enzyme activity.
[So] Source:Colloids Surf B Biointerfaces;150:8-14, 2017 Feb 01.
[Is] ISSN:1873-4367
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:In this present work, the adsorption of the enzyme lactase onto Langmuir monolayers of the phospholipid dimyristoylphosphatidic acid (DMPA) was investigated and characterized with surface pressure-area isotherms, surface potential-area isotherms and polarization-modulated infrared reflection-absorption spectroscopy (PM-IRRAS). The adsorption of the enzyme at the air-water interface expanded the lipid monolayer and increased the film compressibility at high surface pressures. Amide bands in the PM-IRRAS spectra were identified, with the CN and CO dipole moments lying parallel to the monolayer plane, revealing that the structuring of the enzyme into ß-sheets was kept in the mixed monolayer. The enzyme-lipid films were transferred from the floating monolayer to solid supports as Langmuir-Blodgett (LB) films and characterized with fluorescence spectroscopy and atomic force microscopy. The catalytic activity of the films was measured and compared to the homogenous medium. The enzyme accommodated in the LB films preserved more than 80% of the enzyme activity after 20days, in contrast for the homogeneous medium, which preserved less than 60% of the enzyme activity. The method presented in this present work not only allows for an enhanced catalytic activity toward lactose, but also can help explain why certain film architectures exhibit better performance.
[Mh] Termos MeSH primário: Enzimas Imobilizadas/química
Lactase/química
Fosfolipídeos/química
[Mh] Termos MeSH secundário: Adsorção
Compostos de Anilina/química
Catálise
Elasticidade
Lipídeos/química
Microscopia de Força Atômica
Pressão
Espectrometria de Fluorescência
Espectrofotometria Infravermelho
Propriedades de Superfície
Temperatura Ambiente
Água/química
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Aniline Compounds); 0 (Enzymes, Immobilized); 0 (Lipids); 0 (Phospholipids); 059QF0KO0R (Water); 701-56-4 (N,N-dimethyl-4-anisidine); EC 3.2.1.108 (Lactase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170328
[Lr] Data última revisão:
170328
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE


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[PMID]:27959280
[Au] Autor:Szilagyi A; Xue X
[Ad] Endereço:Department of Medicine, Division of Gastroenterology, Jewish General Hospital, McGill University School of Medicine, 3755 Cote Ste Catherine Road, Montreal, Quebec H3T 1E2, Canada. Electronic address: aszilagy@jgh.mcgill.ca.
[Ti] Título:Geographic associations between lactase phenotype, multiple sclerosis, and inflammatory bowel diseases; Does obesity trump geography?
[So] Source:Med Hypotheses;96:68-72, 2016 Nov.
[Is] ISSN:1532-2777
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Geographic patterns with diminishing rates from north to south toward the equator have been described for a number of diseases, putatively related largely to "western" lifestyle. Among these the inflammatory bowel diseases; Crohn's (CD) and Ulcerative colitis (UC) have been prominent in sharing distributions with a number of autoimmune diseases. One of the interesting associations is the epidemiologic similarity with multiple sclerosis (MS). However, in addition, at least some of these diseases also correlated inversely with lactase non persistent population (LNP) distributions. It is hypothesized that MS should also have an inverse relationship with LNP. We provide support for this by comparing published MS, CD, UC and LNP national rates to the beginning of the new millennium. Possible links among these diseases may be an evolutionary signature of new genes which may have accompanied emergence of lactase persistence millennia ago. The emergent phenotypic dichotomy also forced different assimilation responses to lactose digestion. While intestinal retention of lactase results in direct host enzymatic digestion, in LNP persons intestinal bacterial metabolism of lactose impacts on the host micro-flora. These microbial changes may play some role in altering rates of diseases including IBD and MS. However, since the late 20th century previously observed patterns are changing. Although industrialization is considered to play an important modifying role, the rising rates of obesity with an emphasis on diet, and microfloral pathogenesis, but with an independent geographic pattern may also facilitate altering rates and geographic distributions of both of these and other diseases.
[Mh] Termos MeSH primário: Doenças Inflamatórias Intestinais/epidemiologia
Lactase/genética
Esclerose Múltipla/epidemiologia
Obesidade/epidemiologia
[Mh] Termos MeSH secundário: Dieta
Comportamento Alimentar
Geografia
Seres Humanos
Incidência
Doenças Inflamatórias Intestinais/complicações
Intestinos/metabolismo
Lactose/metabolismo
Estilo de Vida
Esclerose Múltipla/complicações
Estado Nutricional
Obesidade/complicações
Fenótipo
Prevalência
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.108 (Lactase); J2B2A4N98G (Lactose)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170803
[Lr] Data última revisão:
170803
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161214
[St] Status:MEDLINE


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[PMID]:27738015
[Au] Autor:Field Y; Boyle EA; Telis N; Gao Z; Gaulton KJ; Golan D; Yengo L; Rocheleau G; Froguel P; McCarthy MI; Pritchard JK
[Ad] Endereço:Department of Genetics, Stanford University, Stanford, CA 94305, USA. yairf@stanford.edu pritch@stanford.edu.
[Ti] Título:Detection of human adaptation during the past 2000 years.
[So] Source:Science;354(6313):760-764, 2016 11 11.
[Is] ISSN:1095-9203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Detection of recent natural selection is a challenging problem in population genetics. Here we introduce the singleton density score (SDS), a method to infer very recent changes in allele frequencies from contemporary genome sequences. Applied to data from the UK10K Project, SDS reflects allele frequency changes in the ancestors of modern Britons during the past ~2000 to 3000 years. We see strong signals of selection at lactase and the major histocompatibility complex, and in favor of blond hair and blue eyes. For polygenic adaptation, we find that recent selection for increased height has driven allele frequency shifts across most of the genome. Moreover, we identify shifts associated with other complex traits, suggesting that polygenic adaptation has played a pervasive role in shaping genotypic and phenotypic variation in modern humans.
[Mh] Termos MeSH primário: Adaptação Fisiológica/genética
Lactase/genética
Complexo Principal de Histocompatibilidade/genética
Seleção Genética
[Mh] Termos MeSH secundário: Cor de Olho/genética
Frequência do Gene
Loci Gênicos
Genoma Humano
Estudo de Associação Genômica Ampla
Cor de Cabelo/genética
Haplótipos
Seres Humanos/genética
Linhagem
Reino Unido
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.108 (Lactase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161015
[St] Status:MEDLINE



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