Genome-Wide Scan of Fifth Finger Clinodactyly.
Myoung Keun Lee1, Noah Herrick1, Mary L Marazita1,2
1Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Molecular Genetics & Genomic Medicine
|March 12, 2025
Summary
This study investigated the genetic basis of fifth finger clinodactyly. Genome-wide association mapping found no significant genetic loci, suggesting mild clinodactyly is unlikely due to simple Mendelian inheritance.
Area of Science:
- Genetics
- Human Anatomy
- Medical Research
Background:
- Fifth finger clinodactyly is the curvature of the fifth digit towards the hand.
- Phenotypic expression varies from mild to severe, potentially requiring intervention.
- Previously considered autosomal dominant, no causative genes have been identified.
Purpose of the Study:
- To identify common genetic variants associated with fifth finger clinodactyly.
- To investigate potential differences in etiology between mild and severe forms.
Main Methods:
- Retrospective cross-sectional study utilizing genome-wide association mapping.
- Analysis of three cohorts, with meta-analysis of results.
- Trait analyzed as both a continuous variable (n=631) and a binary outcome (n=1647).
Main Results:
- The majority of participants presented with mild clinodactyly.
- No genome-wide significant loci were identified in individual cohorts or meta-analyses.
- Suggestive signals were observed but lacked replication.
Conclusions:
- Common variants are unlikely to be the primary cause of mild fifth finger clinodactyly.
- The mild form of the trait does not appear to follow simple Mendelian inheritance patterns.
- Further research with larger sample sizes is needed to definitively exclude common variant contributions.
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