Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts

Vieira, Alexandre R.; McHenry, Toby; Daack-Hirsch, Sandra; Murray, Jeffrey C.; Marazita, Mary L.

doi:10.1097/gim.0b013e3181833793

Cited by 96 publications

(76 citation statements)

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“…A genome-wide linkage study of families with clefting suggested genetic differences between those with and without dental anomalies (Vieira et al 2008b). Also, previous associations between cleft candidate genes/loci, including MSX1, PAX9, IRF6, ANKS6, ERBB2, ABAC4-ARHGAP29, 8q24, and 6q14, and specific patterns of dental anomalies in individuals with clefts (Vieira et al 2004;Modesto et al 2006;Vieira et al 2008a;Letra et al 2012;Yildirim et al 2012) support the hypothesis of a common genetic link between oral clefts and dental anomalies. However, they may also be partly explained by mechanical effects of the cleft and surgery if these variants affect cleft type and severity.…”

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confidence: 71%

Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting

et al. 2015

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Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ2 statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10−8) and permanent dentitions (51% vs. 8%, P = 4 × 10−62) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the cleft and surgical interventions.

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confidence: 71%

Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting

et al. 2015

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“…These results have been observed in other epidemiological studies focused on cleft lip and/or palate (21) and confirmed the strong influence of genetic background. Nevertheless, the statistical relationship between (17)(18)(19)(20). Therefore, the next step in our research program will be to ascertain specific genetic alterations that are intrinsically linked to cleft lip and/or palate in this Mexican population.…”

Section: Discussionmentioning

confidence: 99%

“…Recent studies and reviews (17)(18)(19)(20) identified genes that may play an important role in the etiology of cleft lip and/or palate, directly or through modifying the effect of environmental agents. Although several socio-demographic characteristics already have been identified as risk factors--such as father's and mother's age, sex, or even marital status (11,21,22), little information exists about the role of socioeconomic status (23)(24)(25).…”

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confidence: 99%

Factores de riesgo hereditarios y socioeconómicos para labio o paladar hendido no asociados a un síndrome en México: estudio de casos y controles pareado

et al. 2011

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Introduction.From an epidemiological point of view, non-syndromic orofacial clefts are the most common oral congenital deformities worldwide. Objective. Family histories were traced and socioeconomic risk factors were identified for nonsyndromic cleft lip with or without cleft palate. Material and methods. A case-control study was carried out with 208 cases of non-syndromic cleft lip with or without cleft palate, and matched by age and sex with 416 controls. Cases were patients attending a referral clinic from 2002 through 2004 in Campeche, Mexico. A questionnaire was administered to collect sociodemographic and socioeconomic variables as well as familial background relevant to non-syndromic cleft lip with or without cleft palate. Conditional logistic regression models were used; adjusted odds ratios and 95% confidence intervals were calculated. Results. In the multivariate model, the following risk factors were identified: 1) low socioeconomic status; 2) birth in the southern region of Campeche state; 3) home delivery or delivery in a publicly funded hospital; 4) occurrence of prior non-syndromic cleft lip with or without cleft palate cases in the father's or mother's family: 5) having a sibling with non-syndromic cleft lip with or without cleft palate; 6) the proband having another malformation, and 7) a history of infections during pregnancy. Prenatal care consisting of vitamin supplementation was a protective factor for non-syndromic cleft lip with or without cleft palate (odds ratio=0.29). Conclusions. A "social gradient in health" was seen to link oral malformation with diet components, and several socioeconomic and socio-demographic factors broadly encompassed in low socioeconomic status. Further characterization of risk factors will guide the assemblage of a pro-active counseling and prevention program for families at risk for non-syndromic cleft lip and cleft palate.

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“…Thus the data suggest that the WNT signalling pathway may contribute to as much as 3-5% of NS CLP and will be a consideration in the clinical management of CL/P [24].…”

Section: Discussionmentioning

confidence: 99%

DNA Sequencing for AXIN 2 (SNP 7591 and 7224837) Gene Polymorphisms in Non-Syndromic Cleft Lip and/or Cleft Palate in the Local Population

2017

IJSR

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Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts

Cited by 96 publications

References 50 publications

Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting

Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting

Factores de riesgo hereditarios y socioeconómicos para labio o paladar hendido no asociados a un síndrome en México: estudio de casos y controles pareado

DNA Sequencing for AXIN 2 (SNP 7591 and 7224837) Gene Polymorphisms in Non-Syndromic Cleft Lip and/or Cleft Palate in the Local Population

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