ArticleAmerican journal of medical genetics. Part A2010
Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
14 citing papers in PubMed, 31 citations in OpenAlex.
- Review
- Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate.Molecular syndromology · 2023Article
- Cleft Candidate Genes and Their Products in Human Unilateral Cleft Lip Tissue.Diseases (Basel, Switzerland) · 2021Article
- Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.Human genome variation · 2020Article
- Association analysis of GWAS hits and non-syndromic cleft lip with/without palate with cleft alveolar in Han population of western China.International journal of clinical and experimental pathology · 2020Article
- The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population.Journal of genetics · 2017Article
- Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.BMC genetics · 2017Article
- Distinct DNA methylation profiles in subtypes of orofacial cleft.Clinical epigenetics · 2017Article
- MORN5 Expression during Craniofacial Development and Its Interaction with the BMP and TGFβ Pathways.Frontiers in physiology · 2016Article
- Assessment of folic Acid and DNA damage in cleft lip and cleft palate.Clinics and practice · 2014Article
- Genetics of cleft lip and cleft palate.American journal of medical genetics. Part C, Seminars in medical genetics · 2013Review
- Further evidence of association of the ABCA4 gene with cleft lip/palate.European journal of oral sciences · 2012Article
- Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts.Journal of medical genetics · 2012Article
- The evolution of human genetic studies of cleft lip and cleft palate.Annual review of genomics and human genetics · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
Abstract
Cleft lip/palate comprises a large fraction of all human birth defects, and is notable for its significant lifelong morbidity and complex etiology. Several studies have shown that genetic factors appear to play a significant role in the etiology of cleft lip/palate. Human chromosomal region 9q21 has been suggested in previous reports to contain putative cleft loci. Moreover, a specific region (9q22.3-34.1) was suggested to present a approximately 45% probability of harboring a cleft susceptibility gene. Fine mapping of 50 SNPs across the 9q22.3-34.11 region was performed to test for association with cleft lip/palate in families from United States, Spain, Turkey, Guatemala, and China. We performed family-based analyses and found evidence of association of cleft lip/palate with STOM (rs306796) in Guatemalan families (P = 0.004) and in all multiplex families pooled together (P = 0.002). This same SNP also showed borderline association in the US families (P = 0.04). Under a nominal value of 0.05, other SNPs also showed association with cleft lip/palate and cleft subgroups. SNPs in STOM and PTCH genes and nearby FOXE1 were further associated with cleft phenotypes in Guatemalan and Chinese families. Gene prioritization analysis revealed PTCH and STOM ranking among the top fourteen candidates for cleft lip/palate among 339 genes present in the region. Our results support the hypothesis that the 9q22.32-34.1 region harbors cleft susceptibility genes. Additional studies with other populations should focus on these loci to further investigate the participation of these genes in human clefting.
Indexed as
Identifiers
What OpenQuestion holds
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.