scholarly journals Genetic Association of ERAP1 and ERAP2 With Eclampsia and Preeclampsia in Northeastern Brazilian Women

2021 ◽  
Author(s):  
LEONARDO CAPISTRANO FERREIRA ◽  
CARLOS EDUARDO MAIA GOMES ◽  
PRIYA DUGGAL ◽  
INGRID DE PAULA HOLANDA ◽  
AMANDA SAMARA DE LIMA ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Genetic Variants ◽  
Antigen Processing ◽  
P Value ◽  
Chronic Hypertension ◽  
Ang Ii ◽  
Small Peptides ◽  
Increased Risk ◽  
Genotype C ◽  
Risk Of Preeclampsia

Abstract The clinical spectrum of hypertensive disorders of pregnancy (HDP) is determined by the interplay between environmental and genetic factors, most of which remains unknown. ERAP1, ERAP2 and LNPEP genes code for multifunctional aminopeptidases involved with antigen processing and degradation of small peptides such as angiotensin II (Ang II), vasopressin and oxytocin. We aimed to test for associations between genetic variants in aminopeptidases and HDP. A total of 1282 pregnant women (normotensive controls, n=693; preeclampsia, n=342; chronic hypertension with superimposed preeclampsia, n=61; eclampsia, n=74; and HELLP syndrome, n=112) were genotyped for variants in LNPEP (rs27300, rs38034, rs2303138), ERAP1 (rs27044, rs30187) and ERAP2 (rs2549796 rs2927609 rs11135484). We also evaluated the effect of ERAP1 rs30187 on plasma Ang II levels in an additional cohort of 65 pregnant women. The genotype C/C, in ERAP1 rs30187 variant (c.1583T>C, p.Lys528Arg), was associated with increased risk of eclampsia (OR=1.85, p=0.019) whereas ERAP2 haplotype rs2549796(C)-rs2927609(C)-rs11135484(G) was associated with preeclampsia (OR=1.96, corrected p-value=0.01). Ang II plasma levels did not differ across rs30187 genotypic groups (p=0.895). In conclusion, ERAP1 gene is associated with eclampsia whereas ERAP2 is associated with preeclampsia, although the mechanism by which genetic variants in ERAPs influence the risk of preeclampsia and eclampsia remain to be elucidated.

scholarly journals Genetic association of ERAP1 and ERAP2 with eclampsia and preeclampsia in northeastern Brazilian women

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Leonardo Capistrano Ferreira ◽  
Carlos Eduardo Maia Gomes ◽  
Priya Duggal ◽  
Ingrid De Paula Holanda ◽  
Amanda Samara de Lima ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Genetic Variants ◽  
Antigen Processing ◽  
Genetic Factors ◽  
Chronic Hypertension ◽  
Ang Ii ◽  
Small Peptides ◽  
Increased Risk ◽  
Genotype C ◽  
Risk Of Preeclampsia

AbstractThe clinical spectrum of hypertensive disorders of pregnancy (HDP) is determined by the interplay between environmental and genetic factors, most of which remains unknown. ERAP1, ERAP2 and LNPEP genes code for multifunctional aminopeptidases involved with antigen processing and degradation of small peptides such as angiotensin II (Ang II), vasopressin and oxytocin. We aimed to test for associations between genetic variants in aminopeptidases and HDP. A total of 1282 pregnant women (normotensive controls, n = 693; preeclampsia, n = 342; chronic hypertension with superimposed preeclampsia, n = 61; eclampsia, n = 74; and HELLP syndrome, n = 112) were genotyped for variants in LNPEP (rs27300, rs38034, rs2303138), ERAP1 (rs27044, rs30187) and ERAP2 (rs2549796 rs2927609 rs11135484). We also evaluated the effect of ERAP1 rs30187 on plasma Ang II levels in an additional cohort of 65 pregnant women. The genotype C/C, in ERAP1 rs30187 variant (c.1583 T > C, p.Lys528Arg), was associated with increased risk of eclampsia (OR = 1.85, p = 0.019) whereas ERAP2 haplotype rs2549796(C)–rs2927609(C)–rs11135484(G) was associated with preeclampsia (OR = 1.96, corrected p-value = 0.01). Ang II plasma levels did not differ across rs30187 genotypic groups (p = 0.895). In conclusion, ERAP1 gene is associated with eclampsia whereas ERAP2 is associated with preeclampsia, although the mechanism by which genetic variants in ERAPs influence the risk of preeclampsia and eclampsia remain to be elucidated.

scholarly journals Maternal and Perinatal Outcomes of White Coat Hypertension During Pregnancy

Hypertension ◽  
2020 ◽  
Vol 76 (1) ◽  
pp. 157-166 ◽  
Author(s):  
Sonia Johnson ◽  
Becky Liu ◽  
Erkan Kalafat ◽  
Basky Thilaganathan ◽  
Asma Khalil
Keyword(s):  
Preterm Birth ◽  
Pregnant Women ◽  
Risk Ratio ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Gestational Hypertension ◽  
White Coat Hypertension ◽  
Chronic Hypertension ◽  
Increased Risk ◽  
Risk Of Preeclampsia

The aim of this meta-analysis is to investigate whether white-coat hypertension (WCH) has an adverse effect on maternal, fetal, and neonatal outcomes. Medline, EMBASE, www.Clinicaltrials.gov , and Cochrane Library databases were searched electronically in December 2019. The outcomes were compared between pregnant women with WCH and normotensive controls, women with chronic hypertension, gestational hypertension or any hypertensive disorder of pregnancy. Twelve studies were eligible for inclusion in the systematic review. Women with WCH enrolled below 20 weeks had a significantly increased risk of preeclampsia (pooled risk ratio [RR], 5.43 [95% CI, 2.00–14.71]). Furthermore, women with WCH had increased risk of delivering a small-for-gestational-age newborn (RR, 2.47 [95% CI, 1.21–5.05], P =0.013) and preterm birth (RR, 2.86 [95% CI, 1.44–5.68], P =0.002). The risk of preeclampsia (risk ratio, 0.43 [95% CI, 0.23–0.78], P =0.005), small-for-gestational-age (RR, 0.46 [95% CI, 0.26–0.82], P =0.008), preterm birth (RR, 0.47 [95% CI, 0.31–0.71], P <0.001) were significantly lower with WCH compared with women with gestational hypertension. Women with WCH delivered ≈1 week later compared with women with chronic hypertension (mean difference, 1.06 weeks [95% CI, 0.44–1.67 weeks]; P <0.001). WCH is associated with a worse perinatal and maternal outcome than normotension, but better outcomes than gestational hypertension and chronic hypertension. Therefore, diagnosis of WCH should be ascertained in pregnant women presenting with hypertension. When the diagnosis is confirmed, these women require monitoring for developing preeclampsia, small-for-gestational-age and preterm birth.

scholarly journals Clinical Stratification of Pregnant COVID-19 Patients based on Severity: A Single Academic Center Experience

2021 ◽  
Vol 38 (05) ◽  
pp. 515-522
Author(s):  
Marissa Berry ◽  
Amanda Wang ◽  
Shannon M. Clark ◽  
Hassan M. Harirah ◽  
Sangeeta Jain ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Disease Severity ◽  
Gestational Age ◽  
Laboratory Data ◽  
Population Characteristics ◽  
Neonatal Outcomes ◽  
P Value ◽  
Asymptomatic Patients ◽  
Increased Risk ◽  
Maternal And Neonatal Outcomes

Objective This study aimed to describe baseline characteristics of a cohort of pregnant women infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and determine if these correlate with disease severity and perinatal outcomes. Study Design This was a retrospective cohort trial conducted at the University of Texas Medical Branch Galveston, Texas. All pregnant women presented to our medical center, who were screened and tested positive for SARS-CoV-2 virus, were included. We stratified our study population in three groups: asymptomatic, symptomatic not requiring oxygen therapy, and patients requiring oxygen support to maintain oxygen saturation >94%. Relevant population characteristics, laboratory data, and maternal and neonatal outcomes were abstracted. A p-value <0.05 was considered statistically significant. Results Between March and July 2020, 91 women tested positive for SARS-CoV-2 upon admission to our labor and delivery unit. Among these, 61.5% were asymptomatic, 34.1% were symptomatic, and 4.4% required oxygen support. Our population was mainly Hispanic (80.2%), multiparous (76.9%), obese (70.3%), and with a median age of 27 years. Median gestational age at symptom onset or diagnosis was 36 weeks. Significant differences were found between gestational age and disease severity. Maternal characteristics including age, body mass index (BMI), and presence of comorbid conditions did not appear to influence severity of SARS-CoV-2 infection. Significant laboratory findings associated with increasing disease severity included decreasing hemoglobin and white blood cell count, lymphopenia, and increasing levels of inflammatory markers including CRP, ferritin, and procalcitonin. Maternal and neonatal outcomes did not differ among groups. No SARS-CoV-2 was detected by polymerase chain reaction testing in neonates of mothers with COVID-19. Conclusion Pregnant patients with COVID-19 infection are predominantly asymptomatic. Patients appear to be at increased risk for more severe infection requiring oxygen support later in pregnancy. Key Points

scholarly journals Pendidikan Kesehatan dengan Pendekatan Model Information Motivation Behavior Skill (IMB) terhadap Peningkatan Pengetahuan dan Pola Konsumsi Sayur dan Buah pada Ibu Hamil

2019 ◽  
Vol 10 (3) ◽  
pp. 320
Author(s):  
Farhati Farhati ◽  
Riska Resmana ◽  
Dian Nurhadianti
Keyword(s):  
Health Education ◽  
Pregnant Women ◽  
Consumption Patterns ◽  
P Value ◽  
Chi Square ◽  
Increased Risk ◽  
Post Test ◽  
Quasi Experimental ◽  
Chi Square Test ◽  
Vegetables And Fruits

<p>Low consumption of vegetables and fruit causes an increased risk of chronic diseases such as cancer, heart disease, and diabetes. The results showed that the majority of pregnant women (52.9%) rarely consume vegetables and fruit in sufficient quantities as recommended. Therefore, it is necessary to provide education about the importance of vegetables and fruits consumption, one of which is through the Information Motivation Behavioral Skill (IMB) approach. This study aims to determine the effect of health education with the Information Motivation Behavior Skill (IMB) approach to increasing knowledge and consumption patterns of vegetables and fruits in pregnant women. This research is a quasi-experimental study with pre-post test design with control groups conducted in pregnant women in the city of Bandung with 60 samples using the observation sheet and questionnaire instruments. Data analysis used the chi-square test. The result of this study indicates that there are significant differences in knowledge and patterns of consumption of vegetables and fruit in pregnant women between the control and treatment groups with a p-value&lt;0.05. Information Motivation Behavior Skill (IMB) Health Education Model approach has a role in increasing the knowledge and consumption patterns of vegetables and fruits in pregnant women.</p>

scholarly journals PENGARUH PEMBERIAN SUPLEMEN KALSIUM DALAM PENCEGAHAN PREEKLAMPSI PADA IBU HAMIL TRIMESTER 2

2019 ◽  
Vol 11 (1) ◽  
pp. 1-9
Author(s):  
Iin Setiawati
Keyword(s):  
Pregnant Women ◽  
Calcium Supplementation ◽  
Rank Test ◽  
P Value ◽  
Signed Rank ◽  
Signed Rank Test ◽  
Equivalent Control ◽  
Survey Results ◽  
Independent Variable ◽  
Risk Of Preeclampsia

                        During pregnancy, the need for increasedcalcium intake. Adequate calcium intake can reducethe risk of preeclampsia. the survey results ofpreliminary studies in Polindes Asemjaran Banyuates over the pastthree months, Found that three pregnant womendetected preeclampsia from a total of 57 pregnantwomen (5.26%). The purpose of the study to analyzethe effectiveness of calcium in pregnant women topreventing preeclampsia in the working area ofPolindes Asemjaran Banyuates. The research design used was QuasiEksperimen with Non Equivalent Control Groupapproach. The independent variable is CalciumSupplementation and dependence is the Occurrenceof Preeclampsi on Trimester 2 Pregnant Woman. Thesample of this study is trimester 2 pregnant womenwho are at risk of experiencing preeclampsia thatmeet the criteria. The instrument was used theobservation sheet, and analyzed using ParametricTest if qualified and non-parameteric test if notqualified with a 0.05. The result of statistical test in both dose group500 mg and 1000 mg with Paired T-Test wasobtained p value (0,941)> α (0,05) in 500 mg dosegroup and Wilcoxon Signed Rank Test result p value(0,105) > a ( 0.05) at a dose of 1000 mg the meanings H1 and H2 are rejected, there is no differencebefore and after given calcium supplement dose 500mg or 1000 mg to prevent preeclampsi. While in theposttest test with Mann Whitney Test in both groupsobtained results p Value (0.105)> α (0.05), it can beconcluded that supplementation of calcium dose 500mg and 1000 mg not effective to preventpreeclampsia. Calcium supplementation of 1000 mg and 500mg doses has not been proven statistically effectiven preventing preeclampsia. Further research isrecommended to increase the number of samples, sothat the research results will be visible and can begeneralized to all pregnant women.  

scholarly journals Dietary Protein and Fat Intake Affects Diabetes Risk with CDKAL1 Genetic Variants in Korean Adults

2020 ◽  
Vol 21 (16) ◽  
pp. 5607
Author(s):  
Woo Jeong Choi ◽  
Hyun-Seok Jin ◽  
Sung-Soo Kim ◽  
Dayeon Shin
Keyword(s):  
Dietary Protein ◽  
Genetic Variants ◽  
Diabetes Risk ◽  
Dietary Factors ◽  
Regulatory Subunit ◽  
P Value ◽  
Fat Intake ◽  
Korean Adults ◽  
A Genome ◽  
Increased Risk

Cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) is one of the strongest diabetes loci identified to date; evidence suggests that it plays an important role in insulin secretion. Dietary factors that affect insulin demand might enhance the risk of diabetes associated with CDKAL1 variants. Our aim was to examine the interactions between dietary protein and fat intake and CDKAL1 genetic variants in relation to the risk of diabetes in Korean adults. Single nucleotide polymorphisms (SNPs) were selected with a genome-wide association study (GWAS) for diabetes after adjustment for age, gender, and examination site. Using data from the Health Examinees (HEXA) Study of the Korean Genome and Epidemiology Study (KoGES), 3988 middle-aged Korean adults between 40–76 years of age (2034 men and 1954 women) were included in the study. Finally, rs7756992 located within the CDKAL1 gene region was selected from GWAS (p-value < 5 × 10−8). Multivariable logistic regression models were used to evaluate the interactions between genotypes and dietary protein and fat intake in relation to diabetes risk after adjustment for age, gender, BMI, waist circumference, physical activity, smoking status, drinking habits, and examination site. Significant interactions between CDKAL1 rs7756992 and dietary protein and fat intake for the risk of diabetes were observed in men (p-value < 0.05). In women, significant interactions between dietary protein and fat intake and CDKAL1 variants (rs7756992) were associated with increased risk of diabetes (p-value < 0.05). Dietary protein and fat intake interacted differently with CDKAL1 variants in relation to the risk of diabetes in Korean adults of both genders. These findings indicate that CDKAL1 variants play a significant role in diabetes and that dietary protein and fat intake could affect these associations.

Interaction between Polymorphisms MTHFR C677T and MTRR A66G and Vitamin Levels in Pregnant Women.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3687-3687
Author(s):  
Elvira M. Guerra-Shinohara ◽  
Patricia R. Barbosa ◽  
Luiz F. Sampaio-Neto ◽  
Rosario D. Hirata ◽  
Mario H. Hirata ◽  
...  
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Mthfr C677t ◽  
Serum Levels ◽  
Serum Folate ◽  
P Value ◽  
Methionine Synthase Reductase ◽  
Mtrr A66g ◽  
Increased Risk ◽  
677T Allele

Abstract In the homocysteine metabolic pathway, several key enzymes, including methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR), have been implicated in abnormal homocysteine accumulation in the presence of rare alleles. In previous study, we showed that lower maternal Cbl levels were associated with higher tHcy and lower S-adenosylmethionine/S-adenosylhomocysteine ratio in pregnant women and their neonates.The aim of this study is to investigate whether MTHFR and MTRR polymorphisms are involved in the risk for elevated total homocysteine (tHcy) and its interaction with low cobalamin (Cbl) or serum folate (SF) levels. Genotypes for polymorphisms MTHFR C677T and MTRR A66G were determined by PCR-FLRP. The serum levels of Cbl, SF and tHcy were determined in 377 pregnant women (37–42 weeks of gestational age), and cutoff values for Cbl and SF were considered the first quartile (low values). Four models of univariate logistic regression analyses were used (Table 1). Pregnant women with MTHFR 677T allele have high risk for elevated tHcy that is increased when 677T allele is associated with low Cbl. Increased risk for elevated tHcy is also met when MTRR 66G allele and low Cbl levels were associated. Women with low SF and common MTHFR and MTRR alleles have high risk for elevated tHcy, that is increased when in association with 677T allele or with 66G allele. Interaction between MTHFR C677T and MTRR A66G polymorphisms and vitamins levels in pregnant women Dependent variables Comparation levels (N) P value Odd Ratios 95% CI P for trend: (a) P<0.001; (b) P<0.001; (c) P=0.067; (d) P<0.001 tHcy>8.3μmol/L MTHFR 677CC genotype and Cbl> 115.8 pmol/L (ref) (136) a 1.00 MTHFR 677CC genotype and≤Cbl 115.8 pmol/L (45) 0.298 1.57 0.67 – 3.63 MTHFR 677CT and 677TT genotypes and Cbl>115.8 pmol/L (145) 0.015 2.09 1.16 – 3.77 MTHFR 677CT and 677TT genotypes and≤Cbl 115.8 pmol/L (48) 0.001 4.63 2.22 – 9.65 tHcy>8.3μmol/L MTHFR 677CC genotype and SF > 10.9 nmol/L (ref) (148) b 1.00 MTHFR 677CC genotype and≤SF 10.9 nmol/L (33) 0.008 3.20 1.35 – 7.59 MTHFR 677CT and 677TT genotypes and SF > 10.9 nmol/L (133) 0.035 1.95 1.05 – 3.61 MTHFR 677CT and 677TT genotypes and≤SF 10.9 nmol/L (59) 0.001 6.62 3.31 – 13.26 tHcy>8.3μmol/L MTRR 66AA genotype and Cbl> 115.8 pmol/L (ref) (96) c 1.00 MTRR 66AA genotype and ≤Cbl 115.8 pmol/L (23) 0.222 1.90 0.68 – 5.29 MTRR 66AG and 66GG genotypes and Cbl>115.8 pmol/L (183) 0.418 1.29 0.70 – 2.39 MTRR 66AG and 66GG genotypes and ≤Cbl 115.8 pmol/L (69) 0.013 2.46 1.21 – 5.01 tHcy>8.3μmol/L MTRR 66AA genotype and SF > 10.9 nmol/L (ref) (92) d 1.00 MTRR 66AA genotype and ≤SF 10.9 nmol/L (27) 0.006 3.83 1.47 – 9.96 MTRR 66AG and 66GG genotypes and SF > 10.9 nmol/L (186) 0.399 1.34 0.68 – 2.63 MTRR 66AG and 66GG genotypes and≤SF 10.9 nmol/L (65) 0.001 4.78 2.26 – 10.10 In conclusion, the interaction between MTHFR and MTRR polymorphisms and low folate and cobalamin serum levels may explain the increased risk for elevated tHcy found in pregnant women.

scholarly journals Risk factors for illness severity among pregnant women with confirmed SARS-CoV-2 infection - Surveillance for Emerging Threats to Mothers and Babies Network, 20 state, local, and territorial health departments, March 29, 2020 -January 8, 2021

2021 ◽  
Author(s):  
Romeo R Galang ◽  
Suzanne M Newton ◽  
Kate R Woodworth ◽  
Isabel Griffin ◽  
Titilope Oduyebo ◽  
...  
Keyword(s):  
Risk Factors ◽  
Pregnant Women ◽  
Asymptomatic Infection ◽  
Illness Severity ◽  
World Health ◽  
Severe Illness ◽  
Molecular Testing ◽  
Chronic Hypertension ◽  
Adjusted Risk ◽  
Increased Risk

Background: Pregnant women with coronavirus disease 2019 (COVID-19) are at increased risk for severe illness compared with nonpregnant women. Data to assess risk factors for illness severity among pregnant women with COVID-19 are limited. This study aimed to determine risk factors associated with COVID-19 illness severity among pregnant women with SARS-CoV-2 infection. Methods: Pregnant women with SARS-CoV-2 infection confirmed by molecular testing were reported during March 29, 2020-January 8, 2021 through the Surveillance for Emerging Threats to Mothers and Babies Network (SET-NET). Criteria for illness severity (asymptomatic, mild, moderate-to-severe, or critical) were adapted from National Institutes of Health and World Health Organization criteria. Crude and adjusted risk ratios for moderate-to-severe or critical COVID-19 illness were calculated for selected demographic and clinical characteristics. Results: Among 5,963 pregnant women with SARS-CoV-2 infection, moderate-to-severe or critical COVID-19 illness was associated with age 30-39 years, Black/Non-Hispanic race/ethnicity, healthcare occupation, pre-pregnancy obesity, chronic lung disease, chronic hypertension, cardiovascular disease, pregestational diabetes mellitus or gestational diabetes. Risk of moderate-to-severe or critical illness increased with the number of underlying medical or pregnancy-related conditions. Conclusions: Pregnant women with moderate-to-severe or critical COVID-19 illness were more likely to be older and have underlying medical conditions compared to pregnant women with asymptomatic infection or mild COVID-19 illness. This information might help pregnant women understand their risk for moderate-to-severe or critical COVID-19 illness and inform targeted public health messaging.

scholarly journals Hubungan Faktor Resiko Dengan Kejadian Eklampsia Pada Ibu Hamil di RSUD Ambarawa

2019 ◽  
Vol 2 (2) ◽  
pp. 7-17
Author(s):  
Nur Cahyani Ari Lestari ◽  
Syahrida Wahyu Utami ◽  
Reni Rahayu
Keyword(s):  
Risk Factors ◽  
Pregnant Women ◽  
Health Workers ◽  
Sampling Technique ◽  
Endothelial Activation ◽  
P Value ◽  
Chronic Hypertension ◽  
Cross Sectional ◽  
Specific Syndrome ◽  
Twin Pregnancies

Eclampsia is a pregnancy-specific syndrome in the form of decreased organ perfusion due to vasospasm and endothelial activation, characterized by increased blood pressure, proteinuria, with or without edema accompanied by seizures. Eclampsia can harm the mother and fetus. The exact cause of eclampsia is unknown, but eclampsia can be triggered by several risk factors including the age of too young or too young, nulliparous, obesity in pregnancy, chronic hypertension, diabetes and multiple pregnancies. This study aims to determine the relationship between risk factors and the incidence of eclampsia in pregnant women in Ambarawa Hospital. The research method used was descriptive analytic research with a cross-sectional approach. Research variables included age, parity, obesity, chronic hypertension, diabetes, twin pregnancies as risk factors for eclampsia and eclampsia. The study population was all pregnant women in Ambarawa General Hospital in January-June of 896 people. The research sample was taken using the proportionate stratified random sampling technique that was in accordance with the inclusion and exclusion criteria as many as 90 people. The results showed that pregnant women aged between 20-35 years were 49 people (54.4%), the parity of pregnant women was nulliparous as many as 37 people (41.1%), pregnant women were not obese as many as 72 people (80%) and not experiencing chronic hypertension as many as 70 people (77.8%), almost all pregnant women did not suffer from diabetes as many as 86 people (95.6%) and did not experience twin pregnancies as many as 83 people (92.2%). Risk factors associated with pre-eclampsia events included parity (p value 0.033), obesity (p value 0.017), chronic hypertension (p value 0,000) and diabetes (p value 0.041. The most dominant risk factor after multivariate regression analysis logistics is chronic hypertension, it is recommended for health workers and the public to prevent the occurrence of pre-eclampsia, especially for mothers who have risk factors. Keywords: Risk Factors, Incidence of Eclampsia

scholarly journals Increased Risk of High Body Fat and Altered Lipid Metabolism Associated to Suboptimal Consumption of Vitamin A Is Modulated by Genetic Variants rs5888 (SCARB1), rs1800629 (UCP1) and rs659366 (UCP2)

Nutrients ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2588
Author(s):  
Sebastià Galmés ◽  
Andreu Palou ◽  
Francisca Serra
Keyword(s):  
Gene Expression ◽  
Lipid Metabolism ◽  
Vitamin A ◽  
Body Fat ◽  
Genetic Variants ◽  
Mononuclear Cells ◽  
Metabolic Response ◽  
Ex Vivo ◽  
P Value ◽  
Increased Risk

Obesity is characterized by an excessive body fat percentage (BF%). Animal and cell studies have shown benefits of vitamin A (VA) on BF% and lipid metabolism, but it is still controversial in humans. Furthermore, although some genetic variants may explain heterogeneity in VA plasma levels, their role in VA metabolic response is still scarcely characterized. This study was designed as a combination of an observational study involving 158 male subjects followed by a study with a well-balanced genotype–phenotype protocol, including in the design an ex vivo intervention study performed on isolated peripheral blood mononuclear cells (PBMCs) of the 41 former males. This is a strategy to accurately identify the delivery of Precision Nutrition recommendations to targeted subjects. The study assesses the influence of rs5888 (SCARB1), rs659366 (UCP2), and rs1800629 (UCP1) variants on higher BF% associated with suboptimal VA consumption and underlines the cellular mechanisms involved by analyzing basal and retinoic acid (RA) response on PBMC gene expression. Data show that male carriers with the major allele combinations and following suboptimal-VA diet show higher BF% (adjusted ANOVA test p-value = 0.006). Genotype–BF% interaction is observed on oxidative/inflammatory gene expression and also influences lipid related gene expression in response to RA. Data indicate that under suboptimal consumption of VA, carriers of VA responsive variants and with high-BF% show a gene expression profile consistent with an impaired basal metabolic state. The results show the relevance of consuming VA within the required amounts, its impact on metabolism and energy balance, and consequently, on men’s adiposity with a clear influence of genetic variants SCARB1, UCP2 and UCP1.

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