scholarly journals IRF6 Genetic Variation and Maternal Smoking During Pregnancy in Cleft Lip/Palate

2021 ◽  
Vol 2 ◽  
Author(s):  
Alexandre R. Vieira ◽  
Mine Koruyucu ◽  
Eyosiyas K. Bekele ◽  
Figen Seymen ◽  
Adriana Modesto
Keyword(s):  
Genetic Variation ◽  
Maternal Smoking ◽  
Cleft Lip ◽  
Published Data ◽  
Smoking During Pregnancy ◽  
Positive History ◽  
Interferon Regulatory Factor 6 ◽  
Cleft Lip Palate ◽  
History Of ◽  
Maternal Smoking During Pregnancy

The goal of the present work was to revisit published data to test if genetic variation in interferon regulatory factor 6 (IRF6) is associated with children born with cleft lip with or without cleft palate (CL/P) for cases with positive history of maternal smoking. From the 573 individuals originally studied, this reanalysis focused on 57 who had a positive history of maternal smoking during pregnancy (39 born with CL/P and 18 born without CL/P). Seven IRF6 markers (rs4844880, rs2235371, rs2013162, ra861019, rs2073487, rs642961, and rs658860) were tested for over-transmission of alleles and an alpha of 0.05 was considered statistically significant. All individuals born with CL/P were homozygous for the wild type allele of rs2235371 in comparison to just two individuals born without clefts (p = 0.0000001). For rs861019, individuals born with CL/P were more likely to have the variant allele (p = 0.006). A similar trend was seen for rs642961 (p = 0.09). The results suggest that statistical evidence of over-representation of IRF6 alleles in individuals born with CL/P may be unveiled only when maternal smoking during pregnancy is used as the inclusion criterion in the analysis.

scholarly journals Prevalence of strabismus and its risk factors among school aged children: The Hong Kong Children Eye Study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Xiu Juan Zhang ◽  
Yi Han Lau ◽  
Yu Meng Wang ◽  
Ka Wai Kam ◽  
Patrick Ip ◽  
...  
Keyword(s):  
Risk Factors ◽  
Hong Kong ◽  
Family History ◽  
Maternal Smoking ◽  
Smoking History ◽  
Ocular Motility ◽  
Refractive Errors ◽  
Smoking During Pregnancy ◽  
History Of ◽  
Maternal Smoking During Pregnancy

AbstractThe study aims to determine the prevalence of strabismus and its risk factors among school children in Hong Kong. This is a cross-sectional study involving 6–8 year old children from different districts in Hong Kong. 4273 children received comprehensive ophthalmological examination, cycloplegic auto-refraction, best corrected visual acuity (BCVA), anterior segment examination, cover/uncover test, ocular motility, and fundus examination. Demographic information, pre- and post- natal background, parental smoking status, and family history of strabismus were obtained through questionnaires. Strabismus was found among 133 children (3.11%, 95% CI 2.59–3.63%), including 117 (2.74%) exotropia and 12 (0.28%) esotropia cases (exotropia-esotropia ratio: 9.75:1). There was no significant difference in prevalence across age (6–8 years) and gender. Multivariate analysis revealed associations of strabismus with myopia (≤ − 1.00D; OR 1.61; 95% CI 1.03–2.52; P = 0.037) hyperopia (≥ + 2.00D; OR 2.49; 95% CI 1.42–4.39; P = 0.002), astigmatism (≥ + 2.00D; OR 2.32; 95% CI 1.36–3.94; P = 0.002), and anisometropia (≥ 2.00D; OR 3.21; 95% CI 1.36–7.55; P = 0.008). Other risk factors for strabismus included maternal smoking during pregnancy (OR 4.21; 95% CI 1.80–9.81; P = 0.001), family history of strabismus (OR 6.36; 95% CI 2.78–14.50, P < 0.0001) and advanced maternal age at childbirth (> 35 years; OR 1.65; CI 1.09–2.49, P = 0.018). The prevalence of strabismus among children aged 6—8 years in Hong Kong is 3.11%. Refractive errors, family history of strabismus and maternal smoking history during pregnancy are risk factors. Early correction of refractive errors and avoidance of maternal smoking during pregnancy are potentially helpful in preventing strabismus.

Association of IRF6 rs2235371 Polymorphism with Non-Syndromic Cleft Lip/Palate: A Meta-analysis

2021 ◽  
Author(s):  
Hossein Neamatzadeh ◽  
Masoud Zare-Shehneh ◽  
Mahta Mazaheri ◽  
Karim Daliri ◽  
Elahe Akbarian ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Web Of Science ◽  
Meta Analysis ◽  
Pooled Analysis ◽  
Recessive Model ◽  
Published Data ◽  
Regulatory Factor ◽  
Interferon Regulatory Factor 6 ◽  
Cleft Lip Palate ◽  
Comprehensive Search

Background: The previous published data on the association between interferon regulatory factor 6 (IRF6) polymorphisms and non-syndromic Cleft Lip/Palate (NSCL ± P) risk remained inconclusive. The aim of this study was to conduct a meta-analysis to further assess the associations. Methods: A comprehensive search in PubMed, EMBASE, Web of Science, and CNKI for all eligible studies up July 2021. Results: A total of 23 studies with 6,161 cases and 8,919 controls were selected for this meta-analysis. Overall pooled analysis suggest a significant association between IRF6 rs2235371 polymorphism and CL±P risk under all the five genetic models, i.e., allele (A vs. G: OR=0.754, 95% CI 0.628-0.905, P=0.002), homozygote (AA vs. GG: OR=0.621 95% 0.405-0.953, P=0.029), heterozygote (AC vs. GG: OR=0.619, 95% CI 0.485-0.791, P≤0.001), dominant (AA+AG vs. GG: OR=0.550, 95% CI 0.381-0.794, P=0.001) and recessive model (AA vs. AG+GG: OR=0.583, 95% CI 0.423-0.804, P=0.001). Subgroup analysis by ethnicity showed that rs2235371 was associated with NSCL±P risk in Asians. Conclusion: This meta-analysis provides strong evidences that IRF6 rs2235371 might be associated with risk of NSCL ± P.

IRE1 Less Common Homozygous Genotype in Families With Positive History of Cancer and Individuals Born With Cleft Lip/Palate

2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Ionária O. Assis ◽  
Rosa Helena W. Lacerda ◽  
Bianca G.N. Cavalcante ◽  
Mariana Bezamat ◽  
Adriana Modesto ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Positive History ◽  
Homozygous Genotype ◽  
Cleft Lip Palate ◽  
History Of ◽  
History Of Cancer

Maternal Smoking and Orofacial Clefts

1997 ◽  
Vol 34 (1) ◽  
pp. 11-16 ◽  
Author(s):  
Karin Källén
Keyword(s):  
Cleft Palate ◽  
Odds Ratio ◽  
Maternal Smoking ◽  
Maternal Age ◽  
Cleft Lip ◽  
Orofacial Clefts ◽  
Oral Clefts ◽  
Smoking During Pregnancy ◽  
Smoking Exposure ◽  
Maternal Smoking During Pregnancy

To investigate a possible association between maternal smoking during pregnancy and oral clefts, a study was conducted using Swedish health registries. Infants with oral clefts (N = 1834) were selected among 1,002,742 infants born between 1983 and 1992 with known smoking exposure in early pregnancy. Confounders such as maternal age and parity were controlled for by using the Mantel-Haenszel technique. A statistically significant association with maternal smoking was found. The odds ratio (OR) for any maternal smoking among cases of cleft lip with or without cleft palate [CL(P)] was 1.16 (95%CI: 1.02–1.32). For cases of cleft palate alone (CP), the corresponding OR was 1.29 (95%CI: 1.08–1.54). The results of the present study, based on the largest series of oral cleft cases published to date, indicate that cigarette smoking during pregnancy is associated with increased risks of CL(P) and CP.

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