Níveis séricos e polimorfismos gênicos da Lectina Ligadora de Manose (MBL) e da Serino Protease Associada à MBP (MASP)-2 em uma amostra da população brasileira

Ferraroni, Natasha Rebouças

doi:10.11606/t.5.2011.tde-20072011-141341

Cited by 2 publications

(2 citation statements)

References 47 publications

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“…No estudo de Ferraroni em 2011, a prevalência do genótipo AA foi de 5,1%, que é semelhante à europeia (4%) e à japonesa (5%). Em nosso estudo, foram identificados quatro pacientes (3,8%) com presença do genótipo AA (22).…”

Section: Discussionunclassified

Estudo do polimorfismo G54D do gene MBL2 no diabetes melito gestacional

Baggenstoss

Petzhold

Willemann

et al. 2014

Arq Bras Endocrinol Metab

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RESUMOObjetivo: Analisar a influência da associação do polimorfismo G54D (rs1800450) do gene MBL2 no diabetes melito gestacional (DMG) quanto à necessidade de tratamento complementar e ocorrência de recém-nascidos grandes para a idade gestacional. Sujeitos e métodos: Cento e cinco pacientes com DMG segundo parâmetro da OMS (Organização Mundial da Saúde) foram avaliadas no período de novembro de 2010 a outubro de 2012. As gestantes foram divididas em dois grupos correspondentes à presença (n = 37) ou à ausência (n = 68) do alelo mutante. As variantes do polimorfismo G54D foram identificadas por meio da técnica de polimorfismos de comprimentos de fragmentos de restrição (RFLP). Parâmetros antropométricos e bioquímicos da mãe e do recém-nascido (RN) e a necessidade de terapia complementar associada à dietoterapia foram avaliados como desfechos primários. Resultados: Das pacientes analisadas, 35,2% carregavam pelo menos um alelo mutante do polimorfismo G54D. Os dois grupos não apresentaram diferença significativa quanto a ganho de peso, paridade, idade, índice de massa corporal e idade gestacional de chegada à maternidade. Os grupos de pacientes portadoras ou não do alelo mutante não diferiram quanto à necessidade de tratamento complementar à dietoterapia (16,2% vs. 26,7%) respectivamente e à ocorrência de recém-nascidos grandes para a idade gestacional (24,3% vs. 13,2%). Conclusão: Nossos dados demonstraram que o polimorfismo G54D do gene MBL2 não teve efeito sobre a necessidade de tratamento complementar acrescido à dietoterapia e à ocorrência de recém-nascidos grandes para a idade gestacional na população estudada. Arq Bras Endocrinol Metab. 2014;58(9):900-5 Descritores MBL2; polimorfismo de nucleotídeo único; diabetes melito gestacional ABSTRACT Objective: To assess the association of the G54D (rs1800450) polymorphism of the gene MBL2 in the gestational diabetes mellitus with the need for additional treatment and the occurrence of large newborns for the gestational age. Subjects and methods: One hundred and five patients recruited in Joinville -Brazil were evaluated between November 2010 and October 2012. Pregnant women were divided in two groups correspondents to the presence (n = 37) or absence (n = 68) of the mutant allele. The variants of the polymorphism G54D were identified by restriction fragment lengths polymorphisms (RFLP). Anthropometric and biochemical parameters of the mother and the newborn, and the necessity of additional therapy associated with diet were assessed as the primary outcomes. Results: Thirty-five point two percent of the evaluated patients carried at least one mutated allele of G54D polymorphism. There were no significant differences in weight gain, parity, age, body mass index and gestational age of arrival at maternity between the two groups. The groups of patients with or without the mutated allele did not differ in the need for additional treatment associated with diet (16.2% vs. 26.7%) respectively and with the occurrence of large newborns for gestational age (24.3% vs. 13.2%). Co...

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Section: Discussionunclassified

Estudo do polimorfismo G54D do gene MBL2 no diabetes melito gestacional

Baggenstoss

Petzhold

Willemann

et al. 2014

Arq Bras Endocrinol Metab

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“…In relation to haplotype frequency, the haplotype LYA predominated in our studied population, in concordance with Boldt et al [23], who observed a higher prevalence of LYA haplotype in a Brazilian population with African descent or without ethnic defined characterization, such as prevalent in this study. This haplotype is associated with high/ intermediate levels of MBL protein [7,24,25], and was more frequently observed among the pregnant women and neonates from the preterm birth group. Further, the haplotype LYB, correlated with lower levels of MBL protein was more frequent in the term birth group.…”

Section: Mbl2 Genementioning

confidence: 93%

Influence of MBL2 and NOS3 polymorphisms on spontaneous preterm birth in North East Brazil: genetics and preterm birth

Silva

Javorski

Brandão

et al. 2018

The Journal of Maternal-Fetal & Neonatal Medicine

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Our study, limited by the small number of patients enrolled, indicates that MBL2 and NOS3 functional SNPs are associated with the occurrence of spontaneous prematurity and the regulation of the maternal inflammatory response. Despite these results are in agreement with previously reports, our findings do not replicate the ones reported in a large genome-wide association study performed on quite high number of subjects. Thus, we can conclude that MBL2 and NOS3 functional SNPs are plausible candidate risk factors just in few preterm birth cases, and consequently they cannot be included in the general diagnostic practice.

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Níveis séricos e polimorfismos gênicos da Lectina Ligadora de Manose (MBL) e da Serino Protease Associada à MBP (MASP)-2 em uma amostra da população brasileira

Cited by 2 publications

References 47 publications

Estudo do polimorfismo G54D do gene MBL2 no diabetes melito gestacional

Estudo do polimorfismo G54D do gene MBL2 no diabetes melito gestacional

Influence of MBL2 and NOS3 polymorphisms on spontaneous preterm birth in North East Brazil: genetics and preterm birth

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