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      Prevalence of non-syndromic orofacial clefts: based on 15,094,978 Chinese perinatal infants

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          Abstract

          Non-syndromic orofacial clefts (NSOFC), which include cleft lip and palate (CLP), cleft lip only (CLO), and cleft palate only (CPO), contains a range of disorders affecting the lips and oral cavity. No systematic review and meta-analysis has been carried out to synthesize the prevalence of NSOFC in Chinese perinatal infants. We aimed to quantify and understand the variation of prevalence national and regional levels. Four English databases and four Chinese databases were searched using a comprehensive search strategy from inception to April 2017. The random effect model was used for this meta-analysis. To determine the sources of heterogeneity, subgroup analyses and meta-regression were conducted based on different categories. The protocol has been pre-registered in the PROSPERO, number CRD42017062293. 110 studies, including 15,094,978 Chinese perinatal infants, were eligible for inclusion. The pooled prevalence rate for NSOFC was 1.67‰ (95% CI 1.53–1.82), varying with provinces. The pooled prevalence estimate was 0.56‰ (0.50–0.63) for CLO, 0.82‰ (0.73–0.90) for CLP, and 0.27‰ (0.24–0.30) for CPO. Significant associations were found between overall prevalence estimates and survey year and study region. The prevalence of NSOFC was severe in Chinese perinatal infants, varying with provinces. The results will serve as a baseline for future assessment of the overall effectiveness of NSOFC control, and will also support and inform health policy for planning and helping health debates.

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          Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.

          Eduardo Castilla, Ann Cooper, Maggie B. Maher … (2004)
          Cleft lip or palate (or the two in combination) is a common birth defect that results from a mixture of genetic and environmental factors. We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene. We identified the gene that encodes interferon regulatory factor 6 (IRF6) as a candidate gene on the basis of its involvement in an autosomal dominant form of cleft lip and palate, Van der Woude's syndrome. A single-nucleotide polymorphism in this gene results in either a valine or an isoleucine at amino acid position 274 (V274I). We carried out transmission-disequilibrium testing for V274I in 8003 individual subjects in 1968 families derived from 10 populations with ancestry in Asia, Europe, and South America, haplotype and linkage analyses, and case-control analyses, and determined the risk of cleft lip or palate that is associated with genetic variation in IRF6. Strong evidence of overtransmission of the valine (V) allele was found in the entire population data set (P<10(-9)); moreover, the results for some individual populations from South America and Asia were highly significant. Variation at IRF6 was responsible for 12 percent of the genetic contribution to cleft lip or palate and tripled the risk of recurrence in families that had already had one affected child. DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate. The contribution of variants in single genes to cleft lip or palate is an important consideration in genetic counseling. Copyright 2004 Massachusetts Medical Society
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            Tobacco smoking and oral clefts: a meta-analysis.

            Amanda Cardy, Julian Little, Ronald Munger (2004)
            To examine the association between maternal smoking and non-syndromic orofacial clefts in infants. A meta-analysis of the association between maternal smoking during pregnancy was carried out using data from 24 case-control and cohort studies. Consistent, moderate and statistically significant associations were found between maternal smoking and cleft lip, with or without cleft palate (relative risk 1.34, 95% confidence interval 1.25-1.44) and between maternal smoking and cleft palate (relative risk 1.22, 95% confidence interval 1.10-1.35). There was evidence of a modest dose-response effect for cleft lip with or without cleft palate. The evidence of an association between maternal tobacco smoking and orofacial clefts is strong enough to justify its use in anti-smoking campaigns.
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              Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

              Yimin Sun, Yongqing Huang, Aihua Yin … (2015)
              Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. Here, we conduct a case-control-based GWAS followed by two rounds of replication; we include six independent cohorts from China to elucidate the genetic architecture of NSCL/P in Chinese populations. Using this combined analysis, we identify a new locus at 16p13.3 associated with NSCL/P: rs8049367 between CREBBP and ADCY9 (odds ratio=0.74, P=8.98 × 10(-12)). We confirm that the reported loci at 1q32.2, 10q25.3, 17p13.1 and 20q12 are also involved in NSCL/P development in Chinese populations. Our results provide additional evidence that the rs2235371-related haplotype at 1q32.2 could play a more important role than the previously identified causal variant rs642961 in Chinese populations. These findings provide information on the genetic basis and mechanisms of NSCL/P.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Oncotarget
                Journal ID (iso-abbrev): Oncotarget
                Journal ID (publisher-id): Oncotarget
                Journal ID (publisher-id): ImpactJ
                Title: Oncotarget
                Publisher: Impact Journals LLC
                ISSN (Electronic): 1949-2553
                Publication date Collection: 2 March 2018
                Publication date (Electronic): 13 January 2018
                Volume: 9
                Issue: 17
                Pages: 13981-13990
                Affiliations
                1 Foshan Institute of Fetal Medicine, Southern Medical University Affiliated Maternal and Child Health Hospital of Foshan, Foshan, Guangdong, 528000, China
                2 Department of Obstetrics, Southern Medical University Affiliated Maternal and Child Health Hospital of Foshan, Foshan, Guangdong, 528000, China
                3 Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, 230032, China
                4 School of Integrated Traditional and Western Medicine, Anhui University of Chinese Medicine, Hefei, Anhui, 230038, China
                5 Department of Library, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310003, China
                6 Menzies Institute for Medical Research, University of Tasmania, Private Bag 23, Hobart, Tasmania 7000, Australia
                7 Department of Epidemiology, Medical College of Jinan University, Guangzhou, Guangdong, 510632, China
                8 Changzhou Center for Disease Control and Prevention, Changzhou, Jiangsu, 213003, China
                9 Department of Maternal, Child and Adolescent Health, School of Public Health, Anhui Medical University, Hefei, Anhui, 230032, China
                10 Department of Neurology, The Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215004, China
                11 Chaohu Hospital Affiliated Anhui Medical University, Chaohu, Anhui, 238000, China
                12 Chengdu Center for Disease Control and Prevention, Chengdu, Sichuan, 610041, China
                13 Department of Communicable Diseases Control, Jiangxi Provincial Center for Disease Control and Prevention, Nanchang 330000, Jiangxi, China
                Author notes
                Correspondence to: Zhengping Liu, liuzphlk81@ 123456outlook.com
                Article
                Publisher ID: 24238
                DOI: 10.18632/oncotarget.24238
                PMC ID: 5862631
                PubMed ID: 29568410
                SO-VID: ba3bd6e4-89d9-4b0c-b679-3d003281036d
                Copyright © Copyright: © 2018 Fan et al.
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License 3.0 (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date received : 27 June 2017
                Date accepted : 5 December 2017
                Categories
                Subject: Clinical Research Paper

                ScienceOpen disciplines: Oncology & Radiotherapy
                Keywords: non-syndromic orofacial clefts,perinatal infants,prevalence,meta-analysis,china
                Data availability:
                ScienceOpen disciplines: Oncology & Radiotherapy
                Keywords: non-syndromic orofacial clefts, perinatal infants, prevalence, meta-analysis, china

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