Smoking and Orofacial Clefts: A United Kingdom–Based Case-Control Study

2004 ◽  
Vol 41 (4) ◽  
pp. 381-386 ◽  
Author(s):  
J. Little ◽  
A. Cardy ◽  
M. T. Arslan ◽  
M. Gilmour ◽  
P. A. Mossey ◽  
...  

Objective To investigate the association between smoking and orofacial clefts in the United Kingdom. Design Case-control study in which the mother's exposure to tobacco smoke was assessed by a structured interview. Setting Scotland and the Manchester and Merseyside regions of England. Participants One hundred ninety children born with oral cleft between September 1, 1997, and January 31, 2000, and 248 population controls, matched with the cases on sex, date of birth, and region. Main Outcome Measure Cleft lip with or without cleft palate and cleft palate. Results There was a positive association between maternal smoking during the first trimester of pregnancy and both cleft lip with or without cleft palate (odds ratio 1.9, 95% confidence interval 1.1 to 3.1) and cleft palate (odds ratio 2.3, 95% confidence interval 1.3 to 4.1). There was evidence of a dose-response relationship for both types of cleft. An effect of passive smoking could not be excluded in mothers who did not smoke themselves. Conclusion The small increased risk for cleft lip with or without cleft palate in the offspring of women who smoke during pregnancy observed in this study is in line with previous evidence. In contrast to some previous studies, an increased risk was also apparent for cleft palate. In these U.K. data, there was evidence of a dose-response effect of maternal smoking for both types of cleft. The data were compatible with a modest effect of maternal passive smoking, but the study lacked statistical power to detect or exclude such an effect with confidence. It may be useful to incorporate information on the effects of maternal smoking on oral clefts into public health campaigns on the consequences of maternal smoking.

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wen Jiang ◽  
Wanqin Xie ◽  
Bin Ni ◽  
Haiyan Zhou ◽  
Zhiyu Liu ◽  
...  

Abstract Background A growing body of studies have investigated the association between air pollution exposure during early pregnancy and the risk of orofacial clefts, but these studies put more emphasis on particulate matter and reported inconsistent results, while research on the independent effects of gaseous air pollutants on orofacial clefts has been quite inadequate, especially in China. Methods A case–control study was conducted in Changsha, China from 2015 to 2018. A total of 446 cases and 4460 controls were included in the study. Daily concentrations of CO, NO2, SO2, O3, PM2.5 and PM10 during the first trimester of pregnancy were assigned to each subject using the nearest monitoring station method. Multivariate logistic regression models were applied to evaluate the associations of monthly average exposure to gaseous air pollutants with orofacial clefts and its subtypes before and after adjusting for particulate matter. Variance inflation factors (VIFs) were used to determine if the effects of gaseous air pollutants could be independent of particulate matter. Results Increase in CO, NO2 and SO2 significantly increased the risk of cleft lip with or without cleft palate (CL/P) in all months during the first trimester of pregnancy, with aORs ranging from 1.39 to 1.48, from 1.35 to 1.61 and from 1.22 to 1.35, respectively. The risk of cleft palate only (CPO) increased with increasing NO2 exposure levels in the first trimester of pregnancy, with aORs ranging from 1.60 to 1.66. These effects sustained and even exacerbated after adjusting for particulate matter. No significant effect of O3 was observed. Conclusions Our study suggested that maternal exposure to CO, NO2, and SO2 during the first trimester of pregnancy might contribute to the development of orofacial clefts, and the associations were potentially independent of particulate matter.


2019 ◽  
Vol 28 (4) ◽  
pp. 453-460
Author(s):  
Dandan Li ◽  
Guirong Zhu ◽  
Shu Lou ◽  
Lan Ma ◽  
Chi Zhang ◽  
...  

AbstractPrevious genome-wide association study of nonsyndromic cleft lip with or without cleft palate (NSCL/P) identified a susceptible variant (rs4791774). We hypothesized that the functional single nucleotide polymorphism (SNP) may be in linkage disequilibrium with this lead SNP. The potential functional SNP (rs4791331) was identified by bioinformatic analysis. A case–control study with 891 orofacial cleft cases and 830 controls was designed to investigate its association with orofacial cleft. The allele-specific DNA-protein binding preference was predicted by JASPAR database. Cell proliferation, cycle and apoptosis, luciferase activity and netrin-1 (NTN1) expression were examined after transfection with the rs4791331 C/T vector in HEK-293 and HEPM cell lines. Forty-six lip tissues of NSCL/P patients were collected to detect NTN1 expression. ntn1a knockout zebrafish models were generated by CRISPR/Cas9 and observed with micro-CT. In the case–control study, the rs4791331-T allele was associated with an increased risk of nonsyndromic orofacial cleft (OR = 1.41, 95% CI = 1.19–1.68), as well as the subgroups cleft lip only (OR = 1.46, 95% CI = 1.14–1.87) and cleft lip and palate (OR = 1.58, 95% CI = 1.27–1.96). The T allele of rs4791331 exhibited anti-apoptotic effects and promoted cell cycle progression at the G1/S transition. Decreased enhancer activity and reduced NTN1 expression following transfection of the T allele were observed. Carriers of the CT/TT genotypes showed significantly lower expression of NTN1 than CC carriers. The ntn1a−/− zebrafish showed relatively wider intermaxillary fissures. These results indicate that rs4791331 (C > T) disrupted motif binding and led to abnormal expression of NTN1, which may be involved in the development of NSCL/P.


2003 ◽  
Vol 3 (4) ◽  
pp. 401-409 ◽  
Author(s):  
Isabel Cristina G Leite ◽  
Francisco José Roma Paumgartten ◽  
Sérgio Koifman

OBJECTIVES: to evaluate risk factors involving environmental and occupational parental exposures associated with occurrence of orofacial clefts in a group of Brazilian children. METHODS: a secondary base case-control study was conducted with 274 cases of cleft lip with or without cleft palate (CL±P) and cleft palate only, with 548 controls (1:2). The authors analyzed residential proximity to industrial areas, exposure to commercial insecticides, agricultural pesticides, and vector control spraying, as well as various occupational exposures. The results were obtained by conditional regression analysis. RESULTS: proximity to industrial installations as a risk factor (OR = 3,32; 95%CI: 2,18-5,05) for all orofacial clefts, as well as the combined use of household insecticides and urban vector control pesticide spraying (OR = 5,73; 95%CI: 2,51-11,28). A group of maternal occupations heavily associated with orofacial clefts was domestic services (OR = 2,89; 95%CI: 1,76-4,86). CONCLUSIONS: solvents are frequently associated with CL ± P and that they are contained in numerous industrial products and household cleaning products, the results pertaining to occupational exposure become plausible. Other associations such as the routine use of domestic insecticides require further specific research for confirmation of the hypothesis.


2010 ◽  
Vol 95 (11) ◽  
pp. 5105-5109 ◽  
Author(s):  
Arthur M. Baker ◽  
Sina Haeri ◽  
Carlos A. Camargo ◽  
Janice A. Espinola ◽  
Alison M. Stuebe

Context: Vitamin D may be important in the pathogenesis of severe preeclampsia. Given the few effective preventive strategies for severe preeclampsia, studies establishing this link are needed so that effective interventions can be developed. Objective: Our objective was to assess whether midgestation vitamin D deficiency is associated with development of severe preeclampsia. Design and Setting: We conducted a nested case-control study of pregnant women who had previously given blood for routine genetic multiple marker screening and subsequently delivered at a tertiary hospital between January 2004 and November 2008. Patients: Participants included women with singleton pregnancies in the absence of any chronic medical illnesses. From an overall cohort of 3992 women, 51 cases of severe preeclampsia were matched by race/ethnicity with 204 women delivering at term with uncomplicated pregnancies. Banked maternal serum was used to measure maternal 25-hydroxyvitamin D [25(OH)D]. Main Outcome Measure: The main outcome was severe preeclampsia. Results: Midgestation maternal 25(OH)D concentration was lower in women who subsequently developed severe preeclampsia compared with controls [median (interquartile range), 75 (47–107) nmol/liter vs. 98 (68–113) nmol/liter; P = 0.01]. Midgestation maternal 25(OH)D of less than 50 nmol/liter was associated with an almost 4-fold odds of severe preeclampsia (unadjusted odds ratio, 3.63; 95% confidence interval, 1.52–8.65) compared with midgestation levels of at least 75 nmol/liter. Adjustment for known confounders strengthened the observed association (adjusted odds ratio, 5.41; 95% confidence interval, 2.02–14.52). Conclusion: Maternal midgestation vitamin D deficiency was associated with increased risk of severe preeclampsia. Vitamin D deficiency may be a modifiable risk factor for severe preeclampsia.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Francisco Félix Caballero ◽  
Ellen A. Struijk ◽  
Alberto Lana ◽  
Antonio Buño ◽  
Fernando Rodríguez-Artalejo ◽  
...  

AbstractElevated concentrations of acylcarnitines have been associated with higher risk of obesity, type 2 diabetes and cardiovascular disease. The aim of the present study was to assess the association between L-carnitine and acylcarnitine profiles, and 2-year risk of incident lower-extremity functional impairment (LEFI). This case–control study is nested in the Seniors-ENRICA cohort of community-dwelling older adults, which included 43 incident cases of LEFI and 86 age- and sex- matched controls. LEFI was assessed with the Short Physical Performance Battery. Plasma L-carnitine and 28 acylcarnitine species were measured. After adjusting for potential confounders, medium-chain acylcarnitines levels were associated with 2-year incidence of LEFI [odds ratio per 1-SD increase: 1.69; 95% confidence interval: 1.08, 2.64; p = 0.02]. Similar results were observed for long-chain acylcarnitines [odds ratio per 1-SD increase: 1.70; 95% confidence interval: 1.03, 2.80; p = 0.04]. Stratified analyses showed a stronger association between medium- and long-chain acylcarnitines and incidence of LEFI among those with body mass index and energy intake below the median value. In conclusion, higher plasma concentrations of medium- and long-chain acylcarnitines were associated with higher risk of LEFI. Given the role of these molecules on mitochondrial transport of fatty acids, our results suggest that bioenergetics dysbalance contributes to LEFI.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Felicitas Schulz ◽  
Ekkehart Jenetzky ◽  
Nadine Zwink ◽  
Charlotte Bendixen ◽  
Florian Kipfmueller ◽  
...  

Abstract Background Evidence for periconceptional or prenatal environmental risk factors for the development of congenital diaphragmatic hernia (CDH) is still scarce. Here, in a case-control study we investigated potential environmental risk factors in 199 CDH patients compared to 597 healthy control newborns. Methods The following data was collected: time of conception and birth, maternal BMI, parental risk factors such as smoking, alcohol or drug intake, use of hairspray, contact to animals and parental chronic diseases. CDH patients were born between 2001 and 2019, all healthy control newborns were born in 2011. Patients and control newborns were matched in the ratio of three to one. Results Presence of CDH was significantly associated with maternal periconceptional alcohol intake (odds ratio = 1.639, 95% confidence interval 1.101–2.440, p = 0.015) and maternal periconceptional use of hairspray (odds ratio = 2.072, 95% confidence interval 1.330–3.229, p = 0.001). Conclusion Our study suggests an association between CDH and periconceptional maternal alcohol intake and periconceptional maternal use of hairspray. Besides the identification of novel and confirmation of previously described parental risk factors, our study underlines the multifactorial background of isolated CDH.


1997 ◽  
Vol 34 (5) ◽  
pp. 447-454 ◽  
Author(s):  
Terri H. Beaty ◽  
Nancy E. Maestri ◽  
Jacqueline B. Hetmanski ◽  
Diego F. Wyszynski ◽  
Craig A. Vanderkolk ◽  
...  

Objective: Infants born in Maryland between June 1992 and June 1996 were used in a case-control study of nonsyndromic oral clefts to test for effects of maternal smoking and a polymorphic genetic marker at the transforming growth factor alpha (TGFA) locus, both of which have been reported to be risk factors for these common birth defects. Design and Setting: Cases were infants with an oral cleft ascertained through three comprehensive treatment centers, with additional ascertainment through a registry of birth defects maintained by the Maryland Health Department. Controls were healthy infants. Medical history information on infants and mothers were collected, along with DNA samples Patients, Participants: Among 286 cases contacted (72% ascertainment), there were 192 nonsyndromic isolated oral clefts (106 M; 86 F) available for this case-control study. Main Outcome Measures: The largest group of 149 Caucasian nonsyndromic cases and 86 controls was used to test for association with maternal smoking and genotype at the Taq1 polymorphism in TGFA. Results: While this modest sample had limited statistical power to detect gene-environment interaction, there was a significant marginal Increase In risk of having an oral cleft If the mother smoked (odds ratio = 1.75, 95%CI = 1.01 to 3.02). We could not demonstrate statistical interaction between maternal smoking and TGFA genotype in this study, however, and the observed increase in the C2 allele among cases was not statistically significant. Conclusions: We could not confirm either the reported association between oral clefts and TGFA genotype or its interaction with maternal smoking. However, these data do show an increased risk if the mother smoked during pregnancy, and this effect was greatest among infants with a bilateral cleft and no close family history of clefts.


Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Tae Jung Kim ◽  
Chi Kyung Kim ◽  
Yerim Kim ◽  
Han-Gil Jeong ◽  
Kiwoong Nam ◽  
...  

Introduction: Sleep duration has been regarded as a potential risk factor for cardiovascular disease and stroke. Short sleep duration is linked with higher stroke incidence, and mortality. Moreover, and paradoxically, long sleep duration is also reported to be positively associated with stroke incidence. However, the impact of sleep duration on the intracerebral hemorrhage (ICH) risk remains unclear. Hypothesis: We assessed the relationship between sleep duration and the risk of ICH. Methods: We performed a nationwide, multicenter matched case-control study to investigate the risk factors for hemorrhagic stroke, using patients from 33 hospitals in Korea. We enrolled a total of 490 patients with ICH and 980 age- and sex-matched controls. We obtained information regarding sleep, sociodemographic factors, lifestyle, and medical history before ICH onset, using qualified structured questionnaires. Sleep duration was categorized as ≤5, 6, 7, 8, and ≥9 hours. We chose sleep duration of 7 h as the reference duration. Results: The included patients were mostly male (58.2%) with a mean age of 57 years. The number of subjects with long sleep duration, more than 8 h, was significantly greater in the ICH group than in the control group (≥8 h, 30.4% vs. 22.6%, P = 0.002). Compared to 7 h, long sleep duration participants tended to be older, be more hypertensive, and be more likely to have blue collar jobs, lower education levels, and poorer marital status (i.e., unmarried or divorced/separated). After controlling for confounding factors, we found that longer sleep duration was independently associated with the risk of ICH in a dose-response manner (8 h: Odds ratio, 1.44; confidence interval, 1.01-2.07; ≥9 h: Odds ratio, 2.60; confidence interval, 1.50–4.49). Conclusions: In conclusion, our study suggested that long sleep duration is positively related to ICH risk in a dose-dependent manner. In this context, our data might suggest that sleep duration is a modifiable risk factor for ICH.


2019 ◽  
Vol 6 (2) ◽  
pp. 114 ◽  
Author(s):  
Mehdi Mokhtari ◽  
Majid Purabdollah ◽  
Mahnaz Sanaeeifar ◽  
Shahin Alipoor ◽  
Ahad Bahrami ◽  
...  

2020 ◽  
pp. 219256822090274
Author(s):  
Christopher Huang ◽  
Ralph Mobbs ◽  
Michael Selby ◽  
Kevin Phan ◽  
Prashanth Rao

Study Design: Retrospective case control study. Objectives: Adjacent-level ossification development (ALOD) is a distinct form of adjacent segmental degeneration that has been recognized to occur after anterior cervical discectomy and fusion (ACDF). It is unclear whether ACDF with plate versus standalone has an effect on rates of ALOD. This retrospective case-control study aims to assess the rate of ALOD in a large series of patients undergoing ACDF with and without plate and factors causing ALOD. Methods: Data was collected for patients undergoing ACDF from January 2009 to July 2016. Data collected was from multiple centers and included demographic data, surgical data, radiological imaging at time of surgery, and serial follow-up imaging. The radiology for ALOD was independently reviewed. Cohorts were divided into ACDF with plate (Group P = plate) and ACDF without plate (Groups S = standalone) and outcomes were compared. Results: There were 260 patients with 138 (53%) in Group P and 122 (47%) in Group S. ALOD was observed in 15.3% of patients overall, 29% in group P and 2.8% in group S ( P < .001). Following multivariate adjustment, statistically significant association was found between use of plate and ALOD (odds ratio = 12.8, 95% confidence interval = 3.52-45.45, P < .001). Plate-to-disc distance <5 mm was significantly associated with ALOD (odds ratio = 13.5, 95% confidence interval = 3.83-47.62, P < .001). Conclusion: The use of anterior plate with ACDF was associated with ALOD. Plate-to-disc distance <5 mm was significantly associated with ALOD even after adjustment for confounding factors. We conclude utilization of standalone cages or cages with plate with more than 5 mm distance from adjacent disc to minimize ALOD.


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