Myoung Keun Lee, Noah Herrick, Mary L Marazita, John R Shaffer, Seth M Weinberg
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Background: Fifth finger clinodactyly describes the conspicuous curvature of the fifth digit toward the other digits of the hand. Phenotypic expression can range from mild and almost imperceptible to severe, where function is impacted, and clinical intervention may be required. Although classically considered an autosomal dominant trait based on early family studies, no genes have been mapped for the trait. Further, there is epidemiological evidence that mild (typical-range) fifth finger clinodactyly may have a different etiology than more severe forms.
Methods: In this retrospective cross-sectional study, we carried out genome-wide association mapping of common genetic variants for clinodactyly in three cohorts separately and combined results via meta-analysis, treating the trait as either a continuous quantitative variable (nmeta = 631) or a binary outcome (nmeta = 1647).
Results: The vast majority of participants in these cohorts exhibited mild forms of clinodactyly. Both the individual cohort results and meta-analyses revealed no genome-wide significant loci. We identified several possible suggestive signals (p < 1 × 10-6), but these showed no evidence of replication.
Conclusion: While our results cannot definitively exclude the contribution of common variants to fifth finger clinodactyly due to the small sample size, they do suggest that the mild form of the trait is unlikely to be related to a major gene effect operating in a simple Mendelian manner.
期刊介绍：
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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