scholarly journals MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Feriha Fatima Khidri ◽  
Yar Muhammad Waryah ◽  
Faiza Kamran Ali ◽  
Hina Shaikh ◽  
Ikram Din Ujjan ◽  
...  

Abstract Background To study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women. Methods After ethical approval and getting informed consent; 250 pregnant women were enrolled and equally divided into two groups (125 preeclamptic cases and 125 normotensive pregnant women). Demographic details and medical history were recorded, and 10 ml blood sample was obtained for DNA extraction. The tetra-primer amplification refractory mutation system (ARMS) assays were developed for assessing the variants of three preeclampsia related genes; F5, MTHFR and VEGFA. An association of six SNVs; F5:c.1601G > A (rs6025), F5:c.6665A > G (rs6027), MTHFR: c.665C > T (rs1801133), MTHFR: c.1286A > C (rs1801131), VEGFA: c.-2055A > C (rs699947) and VEGFA: c.*237C > T (rs3025039) with preeclampsia was determined by using different genetic models. Results Genotyping of the SNVs revealed that patients with MTHFR:c.665C > T, have increased susceptibility to preeclampsia (CT versus CC/TT: OR = 2.79, 95% CI = 1.18–6.59; P* = 0.046 and CT/TT vs CC: OR = 2.91, 95% CI = 1.29–6.57; P* = 0.0497, in overdominant and dominant models, respectively), whereas F5:c.6665A > G, (A/G vs AA/GG: OR = 0.42, 95% CI = 0.21–0.84; P* = 0.038 in overdominant model) and MTHFR:c.1286A > C, (CC versus AA: OR = 0.36, 95% CI = 0.18–0.72; P* = 0.0392 in codominant model) have significantly decreased risk for preeclampsia. F5:c.1601G > A, VEGFA: c.-2055A > C and VEGFA: c.*237C > T variants revealed no relationship with the disease. Conclusion This is the first case control study describing the protective role of F5:c.6665A > G against preeclampsia in any world population. In addition, the present study confirmed the association and role of MTHFR gene variations in the development of preeclampsia in Pakistani patients. Further genetic studies may be required to better understand the complex genetic mechanism of SNVs in preeclampsia related genes in pregnant women.

2009 ◽  
Vol 12 (9) ◽  
pp. 1576-1579 ◽  
Author(s):  
Carlotta Galeone ◽  
Claudio Pelucchi ◽  
Luigino Dal Maso ◽  
Eva Negri ◽  
Maurizio Montella ◽  
...  

AbstractObjectiveThe potential role of allium vegetables on endometrial cancer risk has been scarcely investigated and the results of previous Chinese studies are not easily applicable to Western populations. Therefore, we evaluated the relationship between onion and garlic intake and endometrial cancer, using data from an Italian case–control study.SettingWe analysed data from a multi-centre case–control study of 454 endometrial cancer cases and 908 controls, admitted to the same hospitals for a wide spectrum of acute, non-neoplastic conditions. Information was collected by trained interviewers using a validated and reproducible FFQ. Multivariate odds ratios and 95 % confidence intervals were obtained after allowance for recognized confounding factors.ResultsCompared with non-users, the OR of endometrial cancer for successive categories of onion intake were 0·94 (95 % CI 0·72, 1·21) for <2 portions/week and 0·40 (95 % CI 0·22, 0·72) for ≥2 portions/week, with a significant inverse trend in risk (P = 0·01). The OR for an increment of one portion (i.e. 80 g) of onions per week was 0·81 (95 % CI 0·70, 0·95). For garlic, the OR for successive categories of intake were 0·89 (95 % CI 0·68, 1·15) for intermediate use and 0·62 (95 % CI 0·42, 0·92) for high use, with a significant inverse trend in risk (P = 0·02).ConclusionsOur study found a moderate protective role of allium vegetables on the risk of endometrial cancer.


2010 ◽  
Vol 16 (8) ◽  
pp. 899-908 ◽  
Author(s):  
F. Dalmay ◽  
D. Bhalla ◽  
A. Nicoletti ◽  
JA Cabrera-Gomez ◽  
P. Cabre ◽  
...  

Few studies report a protective role of childhood solar exposure to multiple sclerosis. Our objective was to confirm the protective role of childhood solar exposure in multiple sclerosis in Cuba, Martinique and Sicily. This was a matched case— control study, and cases met Poser criteria for clinically, laboratory (definite, probable) multiple sclerosis. Controls were resident population, without neurological disorder, living close to cases (within 100 km), matched for sex, age (±5 years), residence before age 15. We recruited 551 subjects during a 1-year period (193 cases, Cuba n = 95, Sicily n = 50, Martinique n = 48; 358 controls). Some (89%) met definite clinical multiple sclerosis criteria (relapsing remitting form (with and without sequel) (74%), secondary progressive (21%), primary progressive (5%)). Odds ratios in a uni-variate analysis were: family history of multiple sclerosis (5.1) and autoimmune disorder (4.0); wearing shirt (3.5), hat (2.7), pants (2.4); sun exposure causing sunburn (1.8); sun exposure duration (1 h more/day; weekends 0.91, weekdays 0.86); bare-chested (0.6); water sports (0.2). Independent factors in the multivariate analysis were family history of multiple sclerosis (4.8 (1.50—15.10)), wearing pants under sunlight (1.9 (1.10—3.20)), sun exposure duration (1 h more/ day, weekdays 0.90 (0.85—0.98), weekends 0.93 (0.87—0.99)), water sports (0.23 (0.13—0.40)). We conclude that outdoor leisure activities in addition to sun exposure reports are associated with a reduced multiple sclerosis risk, with evidence of dose response.


2020 ◽  
Vol 45 (1) ◽  
pp. 258-265
Author(s):  
Monica Saucedo ◽  
◽  
Ana Paula Esteves-Pereira ◽  
Lucile Pencolé ◽  
Agnès Rigouzzo ◽  
...  

Abstract Objective Obesity has significant implications for the health of pregnant women. However, few studies have quantified its association with maternal mortality or examined the relevant underlying causes and the role of care, although this remains the most severe maternal outcome. Our objectives were to quantify the risk of maternal death by prepregnancy body mass index and to determine whether obesity affected the quality of care of the women who died. Desing This is a national population-based case–control study in France. Cases were 364 maternal deaths from the 2007–2012 National Confidential Enquiry. Controls were 14,681 parturients from the nationally representative 2010 perinatal survey. We studied the association between categories of prepregnancy BMI and maternal death by multivariable logistic regression, estimating adjusted odds ratios and 95% confidence intervals, overall and by specific causes of death. Individual case reviews assessed the quality of care provided to the women who died, by obesity status. Results Compared with women with normal BMI, underweight women (<18.5 kg/m2) had an adjusted OR of death of 0.75 (95% CI, 0.42–1.33), overweight women (25–29.9 kg/m2) 1.65 (95% CI, 1.24–2.19), women with class 1 obesity (30–34.9 kg/m2) 2.22 (95% CI, 1.55–3.19) and those with class 2–3 obesity (≥35 kg/m2) 3.40 (95% CI, 2.17–5.33). Analysis by cause showed significant excess risk of maternal death due to cardiovascular diseases, venous thromboembolism, hypertensive complications and stroke in women with obesity. Suboptimal care was as frequent among women with (35/62, 57%) as without obesity (136/244, 56%), but this inadequate management was directly related to obesity among 14/35 (40%) obese women with suboptimal care. Several opportunities for improvement were identified. Conclusions The risk of maternal death increases with BMI; it multiplied by 1.6 in overweight women and more than tripled in pregnant women with severe obesity. Training clinicians in the specificities of care for pregnant women with obesity could improve their outcomes.


PLoS ONE ◽  
2016 ◽  
Vol 11 (5) ◽  
pp. e0154393 ◽  
Author(s):  
Aya Kawasaki ◽  
Narumi Hasebe ◽  
Misaki Hidaka ◽  
Fumio Hirano ◽  
Ken-ei Sada ◽  
...  

1992 ◽  
Vol 107 (4) ◽  
pp. 577-582 ◽  
Author(s):  
Heinz Maier ◽  
Ulrike Gewelke ◽  
Andreas Dietz ◽  
Wolf-Dieter Heller

Squamous cell carcinoma of the larynx is a multifactorial disease. It is firmly linked to several environmental risk factors. In the meanwhile, a considerable amount of epidemiologic evidence has been built up to implicate chronic consumption of alcohol and tobacco, occupation, diet, and social status in the etiology of the laryngeal cancer. Herein is a report from the first case-control study on the role of these risk factors conducted in a German population of patients with laryngeal cancer.


2006 ◽  
Vol 134 (6) ◽  
pp. 1226-1230 ◽  
Author(s):  
A. E. DUBOIS ◽  
M. SINKALA ◽  
P. KALLURI ◽  
M. MAKASA-CHIKOYA ◽  
R. E. QUICK

Between 28 November 2003 and 23 February 2004, 4343 cases and 154 deaths from cholera (case-fatality rate 3·5%) were reported in Lusaka, Zambia. A case-control study was conducted in February 2004 to assess potential transmission routes and prevention strategies. Consumption of raw vegetables was significantly associated with cholera [adjusted odds ratio (aOR) 4·7, 95% confidence interval (CI) 1·7–13, P=0·003). Consumption of a local sardine-like fish was protective (aOR 0·3, 95% CI 0·1–0·7, P=0·008). Hand soap was present in 90% of control homes and 58% of case homes. Observed hand soap was a strongly protective factor (aOR 0·1, 95% CI 0·04–0·4, P=0·001). No water source or treatment practice was significantly associated with cholera. This study documents the importance of foodborne transmission of cholera, illustrates the protective role of hand washing in an epidemic setting, and identifies a novel possible protective factor, a local fish, which warrants further research.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Lihui Huang ◽  
Min Cai ◽  
Li Li ◽  
Xin Zhang ◽  
Yang Xu ◽  
...  

Abstract Background Preeclampsia (PE) is a condition of high blood pressure that is usually concurrent with proteinuria in pregnancy. PE complicates the management of both maternal and fetal health and contributes to most adverse pregnancy outcomes, but the mechanism underlying the development of PE remains unclear. In this study, we performed a case-control study to compare the gut microbiota of PE (n = 26), abnormal placental growth (APG, n = 25) and healthy pregnant women (n = 28) and analyzed the potential pathogenic role of gut microbiota in PE progression. Results The clinical pathophysiological state did not affect the bacterial diversity, while the compositions of the gut microbiota were significantly altered in both the PE and APG groups compared with healthy pregnant women. At the phylum level, TM7 was significantly increased in women with APG. Heterogeneity was observed at the genus level, especially in genera with positive LDA scores, suggesting the stage-dependent effect of gut microbiota on the development of PE. The beneficial bacterium Lactobacillus was markedly depleted in the PE and APG groups but was only correlated with blood pressure (BP) and proteinuria levels in the PE group. Two different bacterial taxa belonged to Lactobacillus showed different correlations (OTU255 and OTU784 were significantly related to PE and APG, respectively). Conclusions Our results indicated that shifts in the gut microbiota might occur from the early stages of the development of PE, which is of possible etiological and therapeutic importance.


2021 ◽  
Author(s):  
Anh Quynh Bui ◽  
Madhawa Gunathilake ◽  
Jeonghee Lee ◽  
Jae Hwan Oh ◽  
Hee Jin Chang ◽  
...  

Abstract There is limited evidence about the interaction between retinol intake and the intestine-specific homeobox (ISX) rs5755368 polymorphism in colorectal cancer (CRC) risk. We conducted a hospital-based case-control study to examine whether the ISX rs5755368 genotypes are associated with the effect of dietary retinol consumption on CRC risk. First, to identify the association between dietary retinol and CRC risk, we recruited 923 CRC patients and 1846 controls. Dietary retinol intake was assessed using a semiquantitative food frequency questionnaire. For genetic analysis, genotype data were available for 1419 patients (600 cases and 819 controls) out of the total study population. ISX rs5755368 genotyping was performed using an Illumina MEGA-Expanded Array. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using unconditional logistic regression models. Retinol intake was inversely associated with the development of CRC (OR = 0.49; 95% CI = 0.37–0.63) after adjusting for confounders. Patients with homozygous AA genotype of the ISX rs5755368 polymorphism were less likely to have CRC risk than subjects carrying the G allele (AG+GG) (OR = 0.76; 95% CI = 0.58–0.99). Additionally, a 68% reduced risk of CRC was related to the highest retinol intake among those carrying the rs5755368 AA genotype compared to the risk of participants carrying the G allele consumed the lowest retinol intake (OR = 0.32; 95% CI = 0.20–0.53; P interaction=0.026). In conclusion, our study confirmed a protective role of retinol intake in CRC risk reduction. Moreover, this association was strengthened significantly among individuals carrying the homozygous AA genotype of the ISX rs5755368 polymorphism.


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