ArticleEuropean journal of human genetics : EJHG2009
Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.Nature genetics · 2012Pooled it
- A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts.Pediatric discovery · 2026Review
- Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.Birth defects research · 2025Article
- Article
- Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.Human genetics · 2023Article
- Rare genetic variants inmedRxiv : the preprint server for health sciences · 2023Article
- Maternal Transmission of theGlobal medical genetics · 2023Article
- Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case-Parent Trio Study.Global medical genetics · 2023Article
- Role ofGlobal medical genetics · 2022Article
- Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022Article
- PAX7 gene polymorphism in muscular temporomandibular disorders as potentially related to muscle stem cells.BMC musculoskeletal disorders · 2021Article
- Cleft Candidate Genes and Their Products in Human Unilateral Cleft Lip Tissue.Diseases (Basel, Switzerland) · 2021Article
- Genetic Factors in Nonsyndromic Orofacial Clefts.Global medical genetics · 2020Review
- [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate onBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2020Article
- Case-Parent Trio Studies in Cleft Lip and Palate.Global medical genetics · 2020Review
- Association between PAX7 and NTN1 gene polymorphisms and nonsyndromic orofacial clefts in a northern Chinese population.Medicine · 2017Article
- Assessment of differentially expressed plasma microRNAs in nonsyndromic cleft palate and nonsyndromic cleft lip with cleft palate.Oncotarget · 2016Article
- Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.European journal of human genetics : EJHG · 2014Article
- Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate.Journal of anatomy · 2014Article
- Genetics of cleft lip and cleft palate.American journal of medical genetics. Part C, Seminars in medical genetics · 2013Review
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 4 countries.
Funding
Abstract
Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of 1 in 700 live births. The paired box (PAX) genes have been suggested as candidate genes for CL/P based largely on mouse models; however, few human studies have focused on this gene family. This study tests for association between markers in four PAX genes and CL/P using a case-parent trio design considering parent-of-origin effects. Trios from four populations (76 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 34 single nucleotide polymorphisms (SNPs) in the PAX3, PAX6, PAX7, and PAX9 genes. We performed the transmission disequilibrium test (TDT) on individual SNPs. Parent-of-origin effects were assessed using the transmission asymmetry test (TAT) and the parent-of-origin likelihood ratio test (PO-LRT). TDT analysis showed one SNP (rs766325) in PAX7 yielding evidence of linkage and association when parent-of-origin was not considered, with an OR(transmission)=1.62 (P=0.003), and five SNPs in PAX6 (including two pairs in near perfect linkage disequilibrium). TAT analysis of all trios revealed two SNPs in PAX7 and four SNPs in PAX3 showing significant excess maternal transmission. For these six SNPs, the maternal OR(transmission) ranged between 1.74 and 2.40, and PO-LRT was also significant (P-values=0.035-0.012). When this analysis was limited to trios with male cases, SNPs in PAX7 showed higher maternal OR(transmission) and greater significance. PAX genes may influence the risk of CL/P through maternal effects, possibly imprinting, which seems to be stronger among male cases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.