ArticleAmerican journal of medical genetics. Part A2015
Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.Human genetics · 2017Pooled it
- Pooled it
- Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic.Genes · 2023Review
- Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population.Molecular genetics & genomic medicine · 2021Article
- A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.Genetic epidemiology · 2019Article
- Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.American journal of medical genetics. Part A · 2019Article
- [Exploring the association between SPRY gene family and non-syndromic oral clefts among Chinese populations using data of a next-generation sequencing study].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2019Article
- Haplotype and Haplotype-Environment Interaction Analysis Revealed Roles of SPRY2 for NSCL/P among Chinese Populations.International journal of environmental research and public health · 2019Article
- Gene-Gene Interactions among SPRYs for Nonsyndromic Cleft Lip/Palate.Journal of dental research · 2019Article
- Non-syndromic Cleft Lip and Palate Polymorphisms Affect Normal Lip Morphology.Frontiers in genetics · 2018Article
- Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.Genetic epidemiology · 2017Article
- Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing.Birth defects research · 2017Article
- Sonic hedgehog regulation ofDevelopment (Cambridge, England) · 2017Article
- Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.Nature communications · 2017Article
- Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.American journal of medical genetics. Part A · 2016Article
- A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.Human molecular genetics · 2016Article
- MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate.Genetic testing and molecular biomarkers · 2016Article
- New insights into craniofacial malformations.Human molecular genetics · 2015Review
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta-analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3,436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs that represented the most significant P-value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1), and rs7179658 (15q22.2). We directly sequenced three non-coding conserved regions 200 kb downstream of SPRY2 in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with nonsyndromic cleft lip with cleft palate (NSCLP) in Europeans (P-value = 4 × 10(-5), ORtransmission = 1.86 with 95% confidence interval: 1.38-2.52). We also found several novel sequence variants in the conserved regions in Asian and European samples, which may help to localize common variants contributing directly to the risk for NSCLP. This study confirms the prior association between rs8001641 and NSCLP in European populations.
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