ArticleAmerican journal of medical genetics. Part A2009
Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- The etiology of idiopathic congenital talipes equinovarus: a systematic review.Journal of orthopaedic surgery and research · 2018Pooled it
- Unraveling the Clinical and Genetic Landscape of Talipes Equinovarus (Clubfoot).Molecular syndromology · 2026Review
- Tracing neurodevelopment and growth pattern in six-year-old children with idiopathic clubfoot: a national cohort study.BMC musculoskeletal disorders · 2025Article
- Prenatal Counseling for Congenital Clubfoot.Journal of the Pediatric Orthopaedic Society of North America · 2024Review
- Article
- The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center.Turkish journal of obstetrics and gynecology · 2020Article
- Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot.PeerJ · 2020Article
- The genetics of isolated and syndromic clubfoot.Journal of children's orthopaedics · 2019Article
- The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse.Development (Cambridge, England) · 2018Article
- Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism.Clinical orthopaedics and related research · 2016Article
- A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years.SpringerPlus · 2016Review
- Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.European journal of human genetics : EJHG · 2013Article
- Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.American journal of medical genetics. Part A · 2012Article
- Genetics of clubfoot.Journal of pediatric orthopedics. Part B · 2012Review
- Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.American journal of medical genetics. Part A · 2011Article
- Vascular abnormalities correlate with decreased soft tissue volumes in idiopathic clubfoot.Clinical orthopaedics and related research · 2011Article
- Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.Birth defects research. Part A, Clinical and molecular teratology · 2011Article
- Smoking, the xenobiotic pathway, and clubfoot.Birth defects research. Part A, Clinical and molecular teratology · 2011Article
- Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.American journal of human genetics · 2010Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Clubfoot is a common birth defect that affects 135,000 newborns each year worldwide. It is characterized by equinus deformity of one or both feet and hypoplastic calf muscles. Despite numerous study approaches, the cause(s) remains poorly understood although a multifactorial etiology is generally accepted. We considered the HOXA and HOXD gene clusters and insulin-like growth factor binding protein 3 (IGFBP3) as candidate genes because of their important roles in limb and muscle morphogenesis. Twenty SNPs from the HOXA and HOXD gene clusters and 12 SNPs in IGFBP3 were genotyped in a sample composed of non-Hispanic white and Hispanic multiplex and simplex families (discovery samples) and a second sample of non-Hispanic white simplex trios (validation sample). Four SNPs (rs6668, rs2428431, rs3801776, and rs3779456) in the HOXA cluster demonstrated altered transmission in the discovery sample, but only rs3801776, located in the HOXA basal promoter region, showed altered transmission in both the discovery and validation samples (P = 0.004 and 0.028). Interestingly, HOXA9 is expressed in muscle during development. An SNP in IGFBP3, rs13223993, also showed altered transmission (P = 0.003) in the discovery sample. Gene-gene interactions were identified between variants in HOXA, HOXD, and IGFBP3 and with previously associated SNPs in mitochondrial-mediated apoptotic genes. The most significant interactions were found between CASP3 SNPS and variants in HOXA, HOXD, and IGFBP3. These results suggest a biologic model for clubfoot in which perturbation of HOX and apoptotic genes together affect muscle and limb development, which may cause the downstream failure of limb rotation into a plantar grade position.
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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.