The association between dietary, physical activity and the DNA methylation of PPARGC1A, HLA-DQA1 and ADCY3 in pregnant women with gestational diabetes mellitus: a nest case-control study.

BACKGROUND: Gestational diabetes mellitus (GDM) is associated with DNA methylation and lifestyle. The effects of DNA methylation on GDM, and the interaction between DNA methylation and lifestyle factors are not well elucidated. The objective of this study was to explore the association between GDM, DNA methylation and lifestyle factors. METHODS: A nest case-control design was performed. Sociodemographic data, dietary intake and daily physical activity information of pregnant women were collected. Bisulfate pyrosequencing was used to detect the DNA methylation level of PPARGC1A, HLA-DQA1, and ADCY3 genes. The differences of DNA methylation levels between the GDM group and the control group were compared. The correlation between clinical characteristics, dietary, physical activity and DNA methylation level was analyzed. RESULTS: A total of 253 pregnant women were enrolled, of which, 60 participants (GDM: 30; control: 30) were included in the final analysis. There were no significant differences in DNA methylation levels of six methylated sites between the two groups in this study (P > 0.05). Daily intake of potato and poultry were associated with DNA methylation level of the CpG 1 site of the ADCY3 gene in all participants and the control group (P < 0.05). Duration of folic acid intake before pregnancy was correlated with the methylation level of the CpG 1 site of the ADCY3 gene in all participants (r = 0.341, P = 0.04) and the control group (r = 0.431, P = 0.025). Daily oil intake was correlated with the methylation level of CpG 2 (r = 0.627, P = 0.016) and CpG 3 (r = 0.563, P = 0.036) of PPARGC1A in the GDM group. CONCLUSION: The association between the DNA methylation levels and GDM wasn't validated. There were associations between dietary and DNA methylation in pregnant women. A large-sample-sized and longitudinal study is warranted to further investigate the impacts of lifestyle on DNA methylation.

DNA methylation signatures of youth-onset type 2 diabetes and exposure to maternal diabetes.

OBJECTIVE: Youth-onset type 2 diabetes (T2D) is physiologically distinct from adult-onset, but it is not clear how the two diseases differ at a molecular level. In utero exposure to maternal type 2 diabetes (T2D) is known to be a specific risk factor for youth-onset T2D. DNA methylation (DNAm) changes associated with T2D but which differ between youth- and adult-onset might delineate the impacts of T2D development at different ages and could also determine the contribution of exposure to in utero diabetes. METHODS: We performed an epigenome-wide analysis of DNAm on whole blood from 218 youth with T2D and 77 normoglycemic controls from the iCARE (improving renal Complications in Adolescents with type 2 diabetes through REsearch) cohort. Associations were tested using multiple linear regression models while adjusting for maternal diabetes, sex, age, BMI, smoking status, second-hand smoking exposure, cell-type proportions and genetic ancestry. RESULTS: We identified 3830 differentially methylated sites associated with youth T2D onset, of which 3794 were moderately (adjusted p-value < 0.05 and effect size estimate > 0.01) associated and 36 were strongly (adjusted p-value < 0.05 and effect size estimate > 0.05) associated. A total of 3725 of these sites were not previously reported in the EWAS Atlas as associated with T2D, adult obesity or youth obesity. Moreover, three CpGs associated with youth-onset T2D in the PFKFB3 gene were also associated with maternal T2D exposure (FDR < 0.05 and effect size > 0.01). This is the first study to link PFKFB3 and T2D in youth. CONCLUSION: Our findings support that T2D in youth has different impacts on DNAm than adult-onset, and suggests that changes in DNAm could provide an important link between in utero exposure to maternal diabetes and the onset of T2D.

DNA methylation risk score for type 2 diabetes is associated with gestational diabetes.

BACKGROUND: Gestational diabetes mellitus (GDM) and type 2 diabetes mellitus (T2DM) share many pathophysiological factors including genetics, but whether epigenetic marks are shared is unknown. We aimed to test whether a DNA methylation risk score (MRS) for T2DM was associated with GDM across ancestry and GDM criteria. METHODS: In two independent pregnancy cohorts, EPIPREG (n = 480) and EPIDG (n = 32), DNA methylation in peripheral blood leukocytes was measured at a gestational age of 28 ± 2. We constructed an MRS in EPIPREG and EPIDG based on CpG hits from a published epigenome-wide association study (EWAS) of T2DM. RESULTS: With mixed models logistic regression of EPIPREG and EPIDG, MRS for T2DM was associated with GDM: odd ratio (OR)[95% CI]: 1.3 [1.1-1.8], P = 0.002 for the unadjusted model, and 1.4 [1.1-1.7], P = 0.00014 for a model adjusted by age, pre-pregnant BMI, family history of diabetes and smoking status. Also, we found 6 CpGs through a meta-analysis (cg14020176, cg22650271, cg14870271, cg27243685, cg06378491, cg25130381) associated with GDM, and some of their methylation quantitative loci (mQTLs) were related to T2DM and GDM. CONCLUSION: For the first time, we show that DNA methylation marks for T2DM are also associated with GDM, suggesting shared epigenetic mechanisms between GDM and T2DM.

Investigating the causal impact of polycystic ovary syndrome on gestational diabetes mellitus: a two-sample Mendelian randomization study.

Introduction: Determining the causal relationship between polycystic ovary syndrome (PCOS) and gestational diabetes mellitus (GDM) holds significant implications for GDM prevention and treatment. Despite numerous observational studies suggesting an association between PCOS and GDM, it remains unclear whether a definitive causal relationship exists between these two conditions and which specific features of PCOS contribute to increased incidence of GDM. Methods: The causal relationship between polycystic ovary syndrome (PCOS), its characteristic indices, and gestational diabetes mellitus (GDM) was investigated using a two-sample Mendelian randomization study based on publicly available statistics from genome-wide association studies (GWAS). The inverse-variance weighted method was employed as the primary analytical approach to examine the association between PCOS, its characteristic indices, and GDM. MR Egger intercept was used to assess pleiotropy, while Q values and their corresponding P values were utilized to evaluate heterogeneity. It is important to note that this study adopts a two-sample MR design where PCOS and its characteristic indices are considered as exposures, while GDM is treated as an outcome. Results: The study results indicate that there is no causal relationship between PCOS and GDM (all methods P > 0.05, 95% CI of OR values passed 1). The IVW OR value was 1.007 with a 95% CI of 0.906 to 1.119 and a P value of 0.904. Moreover, the MR Egger Q value was 8.141 with a P value of 0.701, while the IVW Q value was also 8.141 with a P value of 0.774, indicating no significant heterogeneity. Additionally, the MR Egger intercept was 0.0004, which was close to zero with a P value of 0.988, suggesting no pleiotropy. However, the study did find a causal relationship between several other factors such as testosterone, high-density lipoprotein, sex hormone-binding globulin, body mass index, waist-hip ratio, apolipoprotein A-I, number of children, diabetes illnesses of mother, father and siblings, hemoglobin A1c, fasting insulin, fasting blood glucose, years of schooling, and GDM based on the IVW method. Conclusion: We observed no association between genetically predicted PCOS and the risk of GDM, implying that PCOS itself does not confer an increased susceptibility to GDM. The presence of other PCOS-related factors such as testosterone, high-density lipoprotein, and sex hormone-binding globulin may elucidate the link between PCOS and GDM. Based on these findings, efforts aimed at preventing GDM in individuals with PCOS should prioritize those exhibiting high-risk features rather than encompassing all women with PCOS.

MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus.

Vitamin D deficiency is prevalent in pregnancy and has been associated with increased occurrences of preeclampsia, cesarean delivery, neonatal bacterial vaginosis, and gestational diabetes. CYP24A1, recognized as a key factor in vitamin D metabolism homeostasis, encodes 24-hydroxylase responsible for converting 25(OH)D3 and 1,25(OH)2D3 into inactive metabolites. Recently, we have reported CYP24A1 overexpression in patients with gestational diabetes mellitus (GDM) and trophoblast cells exposed to hyperglycemia. In this study, we explored miRNA-mediated regulation of CYP24A1 in GDM progression, validating our findings through silencing experiments in a trophoblast cell line. In silico tools identified miR-125b-5p as a putative target of CYP24A1. Expression analysis revealed downregulation of miR-125b-5p in blood samples from early GDM and GDM compared to healthy pregnant women, positively correlating with vitamin D levels. Hyperglycemic exposure in human trophoblastic cell lines (BeWo) decreased miR-125b-5p expression, concomitant with an increase in CYP24A1. To confirm the regulatory role of miR-125b on CYP24A1, we transfected BeWo cells with antimiR-125b or miR-125b mimic. AntimiR-125b transfection heightened CYP24A1 levels, while miR-125b mimic overexpression resulted in decreased CYP24A1 expression. These findings establish miR-125b as a regulator of CYP24A1. To explore the influence of miR-125b on vitamin D metabolism, trophoblast cells overexpressing miR-125b were treated with 0.1 and 1 µM calcitriol. Hyperglycemic conditions exhibited a reduction in CYP24A1 levels. Collectively, our results indicate that miR-125b may regulate vitamin D metabolism by targeting CYP24A1, contributing to GDM progression. These findings may pave the way for understanding vitamin D resistance in concurrent GDM development and identifying novel miRNAs targeting CYP24A1.

METTL14-mediated lncRNA XIST silencing alleviates GDM progression by facilitating trophoblast cell proliferation and migration via the miR-497-5p/FOXO1 axis.

Gestational diabetes mellitus (GDM), a prevalent complication during the gestation period, has been linked to impaired proliferation and migration of trophoblasts causing placental maldevelopment. We previously found that lncRNA X-inactive specific transcript (XIST) played an essential role in GDM progression. Here, we investigated the precise biological functions as well as the upstream and downstream regulatory mechanisms of XIST in GDM. We found that XIST and forkhead box O1 (FOXO1) were conspicuously upregulated and miR-497-5p and methyltransferase-like 14 (METTL14) were downregulated in the placentas of GDM patients. XIST silencing facilitated proliferation and migration and inhibited cell apoptosis and cell cycle arrest in HG-cultured HTR8/SVneo cells. METTL14 inhibited XIST expression through m6A methylation modification. XIST overexpression abrogated the positive effect of METTL14 overexpression on HG-cultured HTR8/SVneo cell progression. MiR-497-5p and FOXO1 are downstream regulatory genes of XIST in HTR8/SVneo cells. Reverse experiments illustrated that XIST mediated HTR8/SVneo cell functions by regulating the miR-497-5p/FOXO1 axis. Additionally, XIST silencing augmented glucose tolerance and alleviated fetal detrimental changes in GDM rats. To conclude, METTL14-mediated XIST silencing facilitated proliferation and migration and inhibited cell apoptosis and cell cycle arrest in HG-cultured HTR8/SVneo cells via the miR-497-5p/FOXO1 axis, thereby alleviating GDM progression in rats.

SIRT1 alleviates insulin resistance and respiratory distress in late preterm rats by activating QKI5-mediated PPARγ/PI3K/AKT pathway.

Neonatal respiratory distress syndrome (NRDS) is a common complication of gestational diabetes mellitus (GDM) and late preterm births. Research suggests that SIRT1 was involved in LPS-induced acute respiratory distress syndrome, but its mechanism remains to be further explored. Here, pregnant rats were intraperitoneally injected with 45 mg/Kg streptozotocin at day 0 of gestation to induce GDM and injected with LPS at day 17 of gestation to induce late preterm birth. Pioglitazone (a PPARγ agonist) was administered from day 17 to parturition in GDM group, and it was administered for 3 days before LPS injection in late preterm birth group. SRT1720 (a SIRT1 activator) was administered by oral gavage from day 0 to day 17 in both groups. Our data showed that activation of SIRT1 or PPARγ alleviated the abnormal blood glucose metabolism and lung tissue injury, downregulated expression of surfactant proteins (SP-B and SP-C), and decreased activation of the PI3K/AKT pathway induced by GDM and late preterm birth in neonatal rats. Moreover, an insulin resistance model was established by treating primary AT-II cells with insulin. Activation of SIRT1 reversed insulin-induced reduction in cell proliferation, glucose consumption, SP-B and SP-C expression, and the activity of the PI3K/AKT pathway and increase in cellular inflammation and apoptosis. Mechanistically, SIRT1 upregulated PPARγ expression via deacetylation of QKI5, an RNA binding protein that can stabilize its target mRNA molecules, and then activated the PI3K/AKT pathway. In conclusion, SIRT1 promotes the expression of PPARγ via upregulation of QKI5 and activates the PI3K/AKT pathway, thus mitigating NRDS caused by GDM and late preterm birth.

Genetic variants of ERBB4 gene and risk of gestational diabetes mellitus: a susceptibility and diagnostic nomogram study.

Introduction: Gestational diabetes (GDM) is one of the common complications of female pregnancy, which seriously affects the health of mothers and their offspring. So far, the etiology has not been fully clarified. Methods: A case-control study was conducted to clarify the relationship between Erb-b2 receptor tyrosine kinase 4 (ERBB4) functional tag genetic variants (rs1595064, rs1595065, rs1595066 and rs6719645) and the risk of GDM. Associations between variants and GDM risk were evaluated with the odds ratios (ORs) and their corresponding 95% confidence intervals (CIs). Subsequently, the false-positive reporting probability (FPRP), multi-factor dimension reduction (MDR) and bioinformatics analysis were adopted to confirm the significant associations. A nomogram model was constructed to predict the risk of GDM. Results: Association analysis demonstrated that rs1595066 TT genotype performed a protective effect on GDM risk among all subjects (TT vs. CC: adjusted OR = 0.60, 95% CI = 0.38 - 0.94, P = 0.026; TT vs. CC/CT: adjusted OR = 0.61, 95% CI = 0.40 - 0.95, P = 0.027). Meanwhile, stratified analysis showed that rs1595066 TT can also reduce the GDM risk in age > 30.09 years old, pre-pregnancy BMI > 22.23 Kg/m2, SBP ≤ 110.08 mmHg, etc subgroups. Interactions between rs1595066 and DBP (P interaction = 0.01), FPG (P interaction < 0.001) and HbA1c (P interaction < 0.001) were detected. The FPRP analysis confirmed that association between rs1595066 and GDM risk in subjects of FPG < 4.79 mmol/L (P = 0.199) is true. The MDR analysis showed that rs1595066 was the best single locus model while the 4-loci model was the best multiple factors model to predict GDM risk. Functional prediction revealed that rs1595066 may disturb the stability of miRNA-mRNA binding. The predictive nomogram model has a well consistence and acceptable discriminative ability with a diagnosed AUC of 0.813. Discussion: ERBB4 variants can change an individual's susceptibility to GDM via the interaction of gene-gene, gene-environment and changes in the regulatory effects of miRNAs on ERBB4 expression.

The role of circular RNA circ_0008285 in gestational diabetes mellitus by regulating the biological functions of trophoblasts

BACKGROUND: Circular RNAs (circRNAs) has emerged as vital regulator involved in various diseases. In this study, we identified and investigated the potential circRNAs involved in gestational diabetes mellitus (GDM). METHODS: High-throughput sequencing was used to collect the plasma circRNAs expression profiles of GDM patients. Quantitative reverse-transcriptase polymerase chain reaction (qRT-PCR) was used to measure the expressions of circ_0008285 and circ_0001173 in the plasma specimens. The Pearson's correlation test was employed to assess the correlation between 2 circRNAs expression and the clinicopathologic data. Two circRNAs expression was verified in high glucose (HG)-induced HTR-8/SVneo cells. MTS, transwell assay was used to evaluate the effects of circ_0008285 expression on HG-induced HTR-8/SVneo cells. The network of circ_0008285 was constructed using cytocape. RESULTS: In GDM patients, the expression of circ_0008285 was significantly upregulated, while that of circ_0001173 was decreased. Circ_0008285 was significantly correlated with the total cholesterol and LDL-C levels. Circ_0001173 was significantly correlated with glycated hemoglobin. HG promoted the proliferation, invasion, and migration in HTR-8/SVneo cells, while the knockdown of circ_0008285 exerted reverse effects. In addition, network construction exhibited that circ_0008285 had 45 miRNA binding sites, which correlated with 444 mRNA. CONCLUSIONS: circ_0008285 plays an important role and provides a clue for the usage of therapeutic targets in the development of GDM.

Anemia no diabetes mellitus gestacional: implicações na instabilidade genômica / Anemia in gestational diabetes mellitus: implications for genomic instability

Introdução: Evidências têm mostrado uma associação entre anemia e Diabetes Mellitus. Contudo, a relação entre anemia e Diabetes Mellitus Gestacional (DMG) ainda não está bem estabelecida, bem como sua repercussão na instabilidade genômica. Portanto, objetivou-se verificar a associação entre anemia e instabilidade genômica em mulheres com DMG atendidas em um hospital universitário. Métodos: Estudo transversal com mulheres apresentando diagnóstico de DMG que realizaram pré-natal no Hospital Universitário de Santa Maria (RS). Informações referentes ao DMG, anemia e suplementação de ferro foram obtidas nos prontuários. A instabilidade genômica foi avaliada pelo ensaio de citoma em micronúcleos em células bucais (BMCyt). Resultados: Das 44 gestantes avaliadas, 28,6% apresentaram anemia e 79,5% foram suplementadas com ferro. Das gestantes que realizaram suplementação, 75,0% não apresentaram anemia gestacional. Níveis de hemoglobina não se associaram com a instabilidade genomica (p > 0,05), mas foi observada uma associação entre brotos nucleares e os níveis de glicemia (r = 0,977; p = 0,003). Conclusão: Não foi verificado associação entre anemia e instabilidade genômica em mulheres com DMG.(AU)

Introduction: There is evidence of an association between anemia and diabetes mellitus. However, the relationship between anemia and gestational diabetes mellitus (GDM) remains to be established, as well as its impact on genomic instability. Therefore, we aimed to examine the association between anemia and genomic instability in women with GDM treated at a university hospital. Methods: A cross-sectional study of women with a diagnosis of GDM who received prenatal care at the University Hospital of Santa Maria, southern Brazil. Data on GDM, anemia, and iron supplementation were obtained from medical records. Genomic instability was assessed by the buccal micronucleus cytome (BMCyt) assay. Results: Of 44 pregnant women evaluated, 28.6% had anemia and 79.5% received iron supplementation; of the latter, 75.0% did not have gestational anemia. Hemoglobin levels were not associated with genomic instability (p > 0.05), but an association was found between nuclear buds and blood glucose levels (r = 0.977; p = 0.003). Conclusion: There was no association between anemia and genomic instability in women with GDM.(AU)

Assessment of polymorphismof the vdr gene and serum vitamin d values in gestational diabetes mellitus / Avaliação do polimorfismo do gene VDR e valores séricos de vitamina D no diabetes mellitus gestacional

Abstract Objective To evaluate the relationship between vitamin D receptor (VDR) gene polymorphism (FokI [rs10735810]) and serum vitamin D concentration in gestational diabetes mellitus (GDM). Methods A prospective case-control study that recruited healthy pregnant women (control group) (n = 78) and women with GDM (GDM group) (n = 79), with no other comorbidities. Peripheral blood samples were collected in the 3rd trimester of gestation, and all of the pregnant women were followed-up until the end of the pregnancy and the postpartum period. Serum vitamin D concentrations were measured by high-performance liquid chromatography (HPLC). For genomic polymorphism analysis, the genomic DNA was extracted by the dodecyltrimethylammonium bromide/ cetyltrimethylammonium bromide (DTAB/CTAB) method, and genotyping was performed by the polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) technique, using the restriction enzyme FokI. The Student-t, Mann- Whitney, chi-squared, and Fischer exact tests were used for the analysis of the results. Results There was no significant difference between the pregnant women in the control and GDM groups regarding serumvitamin D levels (17.60 ± 8.89 ng/mL versus 23.60 ± 10.68 ng/mL; p = 0.1). Also, no significant difference was detected between the FokI genotypic frequency when the 2 groups were compared with each other (p = 0.41). Conclusion There was no association between the FokI polymorphism and the development of GDM, nor was there any change in serum vitamin D levels in patients with GDM.

Resumo Objetivo Avaliar a relação entre o polimorfismo do gene receptor da vitamina D (VDR) (FokI [rs10735810]) e a concentração sérica de vitamina D no diabetes mellitus gestacional (DMG). Métodos Estudo prospectivo tipo caso-controle que recrutou gestantes saudáveis (grupo controle) (n = 78) e com DMG (grupo DMG) (n = 79), sem outras comorbidades. Foram coletadas amostras de sangue periférico no 3° trimestre da gestação, e todas as gestantes foram acompanhadas até o final da gravidez e no pós-parto. As concentrações séricas de vitamina D foram mensuradas por cromotografia líquida de alta eficiência (CLAE). Para análise do polimorfismo genético, o DNA genômico foi extraído pelo método de brometo de dodeciltrimetilamônio/brometo de cetiltrimetilamônio (DTAB/CTAB), e as genotipagens foram realizadas por técnica de reação de cadeia de polimerase - polimorfismo do comprimento do fragmento de restrição (PCRRFLP, na sigla em inglês), sendo empregada a enzima de restrição FokI. Foram utilizados os testes t-Student, Mann-Whitney, qui-quadrado e exato de Fischer para a análise dos resultados. Resultados Não houve diferença significativa entre as gestantes dos grupos controle e DMG quanto aos níveis séricos de vitamina D (17,60 ± 8,89 ng/mL versus 23,60 ± 10,68 ng/mL; p = 0,1). Também não foi detectada diferença significativa entre a frequência genotípica de FokI, quando comparados os 2 grupos entre si (p = 0,41). Conclusão Não foi identificada associação do polimorfismo FokI com o desenvolvimento de DMG, bem como não foi observada alteração nos níveis séricos de vitamina D em pacientes com DMG.

Type 2 diabetes-associated genetic variants of FTO, LEPR, PPARg, and TCF7L2 in gestational diabetes in a Brazilian population

ABSTRACT Objective Gestational diabetes mellitus (GDM) is a metabolic disorder that shares pathophysiologic features with type 2 diabetes mellitus. The aim of this study was to investigate the association of the polymorphisms fat mass and obesity-associated (FTO) rs1421085, leptin receptor (LEPR) rs1137100, rs1137101, peroxisome proliferator-activated receptor gamma (PPARg) rs1801282, and transcription factor 7-like 2 (TCF7L2) rs7901695 with GDM. Subjects and methods 252 unrelated Euro-Brazilian pregnant women were classified into two groups according to the 2015 criteria of the American and Brazilian Diabetes Association: healthy pregnant women (n = 125) and pregnant women with GDM (n = 127), matched by age. The polymorphisms were genotyped using fluorescent probes (TaqMan®). Results All groups were in Hardy-Weinberg equilibrium. The genotype and allele frequencies of the studied polymorphisms did not show significant differences between the groups (P > 0.05). In the healthy and GDM groups, the C allele frequencies (95% CI) of the FTO rs1421085 polymorphism were 36.8% [31-43%] and 35.0% [29-41%]; the G allele frequencies (95% CI) of the LEPR rs1137100 polymorphism were 24.8% [19-30%] and 22.8% [18-28%]; the G allele frequencies (95% CI) of the LEPR rs1137101 polymorphism were 43.6% [37-50%] and 42.9% [37-49%]; the G allele frequencies (95% CI) of the PPARg rs1801282 polymorphism were 7.6% [4-11%] and 8.3% [5-12%]; and the C allele frequencies (95% CI) of the TCF7L2 rs7901695 polymorphism were 33.6% [28-39%] and 39.0% [33-45%], respectively. Conclusion The studied polymorphisms were not associated with GDM in a Brazilian population.

Estudo do polimorfismo G54D do gene MBL2 no diabetes melito gestacional / Study of polymorphism G54D of MBL2 gene in gestational diabetes mellitus

Objetivo 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 ...

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%). Conclusion Our data showed that the polymorphism G54D of the gene MBL2 had no effect in the need for additional treatment associated with the diet-based therapy and in the occurrence of large newborns for gestational age in the studied population. Arq Bras Endocrinol Metab. 2014;58(9):900-5 .

The burden of gestational diabetes mellitus in Jamaican women with a family history of autosomal dominant type 2 diabetes

OBJECTIVES: To determine if Jamaican women of African descent with a family history of early onset autosomal dominant type 2 diabetes have greater odds of developing gestational diabetes mellitus (GDM) than those without a family history of the disease. METHODS: A comparative study was conducted of two groups of pregnant Jamaican women: the first with a family history of early onset autosomal dominant type 2 diabetes; the second with no history of the disease. Incidence, odds for developing GDM, and metabolic profiles in first and second trimesters were assessed using SPSS 11.5 (SPSS Inc., Chicago, Illinois, United States). RESULTS: The incidence of GDM was 12.0 percent in women with a family history of early onset autosomal dominant type 2 diabetes and 1.5 percent in women without a family history of the disease (P < 0.05). Women with a family history were nine times more likely to develop GDM than those without a family history of diabetes (95 percent confidence interval: 5.00-16.38, P < 0.0001). CONCLUSION: Family history of early onset autosomal dominant type 2 diabetes appears to increase susceptibility to GDM in Jamaican women. Pregnant women of any age with family history of early onset autosomal type 2 diabetes should be screened for GDM.

OBJETIVOS: Determinar si las mujeres jamaicanas de ascendencia africana con antecedentes familiares de inicio temprano de diabetes autosómica dominante tipo 2 tienen mayor probabilidad de desarrollar diabetes mellitus gestacional (DMG) que las que no tienen esos antecedentes familiares. MÉTODOS: Se realizó un estudio comparativo con dos grupos de mujeres jamaicanas embarazadas: el primero con mujeres que tenían antecedentes familiares de inicio temprano de diabetes autosómica dominante tipo 2 y el segundo con mujeres sin antecedentes familiares de esa enfermedad. Se empleó el programa SPSS v. 11.5 (SPSS Inc., Chicago, Illinois, Estados Unidos de América) para analizar los resultados y calcular la incidencia, la probabilidad de desarrollar DMG y los perfiles metabólicos en el primer y el segundo trimestres de gestación. RESULTADOS: La incidencia de DMG fue de 12,0 por ciento en las mujeres con antecedentes familiares de inicio temprano de diabetes autosómica dominante tipo 2 y de 1,5 por ciento en las mujeres sin antecedentes familiares de esa enfermedad (P < 0,05). Las mujeres del primer grupo tuvieron nueve veces más probabilidades de desarrollar DMG que las del segundo grupo (intervalo de confianza de 95 por ciento: 5,00 a 16,38; P < 0,0001). CONCLUSIÓN: Los antecedentes familiares de inicio temprano de diabetes autosómica dominante tipo 2 aumentaron la predisposición a sufrir DMG en mujeres jamaicanas. Las mujeres embarazadas con antecedentes familiares de inicio temprano de diabetes autosómica tipo 2 deben someterse a pruebas de tamizaje para DMG, independientemente de su edad.