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Review
. 2016 Jun 27;5(1):896.
doi: 10.1186/s40064-016-2353-8. eCollection 2016.

A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years

Bi-Cheng Yong  1 , Fu-Xing Xun  1 , Lan-Juan Zhao  2 , Hong-Wen Deng  2 , Hong-Wen Xu  1
Affiliations
Review

A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years

Bi-Cheng Yong et al. Springerplus. .

Abstract

The genetic cause of idiopathic congenital talipes equinovarus (ICTEV) is largely unknown. We performed a systematic review to describe the findings from 21 studies that have examined the genetic variants related to ICTEV, and to evaluate the quality of reporting. We found that ICTEV was positively associated with Hox family genes, collagen family genes, GLI3, N-acetylation genes, T-box family genes, apoptotic pathway genes, and muscle contractile family genes. Negative and controversial results were also discussed, and several genes associated with ICTEV were identified. Due to the limitation of the included studies, rare coding variants should be further investigated, sample size should be enlarged, and candidate genes should be replicated in larger ICTEV populations. Epigenetic study, pathways, chromosome capture, and detailed gene-environment interaction will also allow further elucidation of factors involved in ICTEV pathogenesis and may shed light on diagnosis and timely and accurate interventions.

Keywords: Etiology; Genetics; ICTEV.

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Figures

Fig. 1
Fig. 1
Flow diagram of the study identification and selection process
Fig. 2
Fig. 2
Genetic study history of ICTEV is shown. Different genes were identified in different years which are listed in blue boxes. The genetic theories to explain the etiology of ICTEV are marked in the green boxes. Several genes were identified and verified by Professor Jacqueline T. Hecht and her research group (under the timeline on the left); they identified and verified several genes in addition to caspase pathway changes in ICTEV patients. Dr. Christina A Gurnett (under on the timeline on the right) first used second generation sequencing methods to study ICTEV. Professor Chun-Lian Jin (above the timeline) pioneered clubfoot genetic study among Chinese patients
See this image and copyright information in PMC

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