Dataset Information

New insights into hallux valgus by whole exome sequencing study.

ABSTRACT: The traditional view is that the occurrence and development of hallux valgus (HV) are mainly due to environmental factors. Recent studies have suggested the large contribution of genetic heritability to HV, but it remains elusive about the genetic variants underlying the development of HV. To gain knowledge about the molecular mechanisms of HV pathogenesis by genetic approach, whole exome sequencing studies were performed in 10 individuals (7 affected by HV and 3 unaffected) from three independent families. Specific mutations were found to be related to the pathogenesis of HV and conform to the laws of inheritance. A total of 36 genes with functional candidate single nucleotide variants were identified. Genetic predisposition plays an important role in the development of HV. Interestingly, some of these genes are related to chronic arthritis, such as the complement encoding gene C7, or are related to long toe or long fingers, such as TTN, COL6A3, LARS, FIG4, and CBS. This study identified rare potentially pathogenic mutations represented by genes related to digital anomalies and chronic arthritis underlying the familial types of HV, which acquired new insights into the genetic and physiological foundations of HV, thereby might improve accurate prevention and drug development for HV.

SUBMITTER: Jia J

PROVIDER: S-EPMC8326439 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

New insights into hallux valgus by whole exome sequencing study.

Jia Jun J Li Junyi J Qu Huiqi H Li Mengyu M Zhang Sipeng S Hao Jun J Gao Xinyi X Meng Xinyi X Sun Yan Y Hakonarson Hakon H Zeng Xiantie X Xia Qianghua Q Li Jin J

Experimental biology and medicine (Maywood, N.J.) 20210429 14

The traditional view is that the occurrence and development of hallux valgus (HV) are mainly due to environmental factors. Recent studies have suggested the large contribution of genetic heritability to HV, but it remains elusive about the genetic variants underlying the development of HV. To gain knowledge about the molecular mechanisms of HV pathogenesis by genetic approach, whole exome sequencing studies were performed in 10 individuals (7 affected by HV and 3 unaffected) from three independe ...[more]

PMID: 33926255

Similar Datasets

Project description:BackgroundAlthough the etiology of hallux valgus is contested, in some patients it may be failure of the stabilizing soft tissue structures around the first ray of the foot. Because there is lack of effective soft tissue techniques, osteotomies have become the mainstream surgical approach to compensate for the underlying soft tissue deficiency; osteodesis, a soft tissue nonosteotomy technique, may be a third alternative, but its efficacy is unknown.Questions/purposesWe asked: (1) Can an osteodesis, a distal soft tissue technique, correct hallux valgus satisfactorily in terms of deformity correction and improvement in American Orthopaedic Foot and Ankle Society (AOFAS) score? (2) Is the effectiveness of an osteodesis affected by the patient's age or deformity severity? (3) What complications are associated with this procedure?MethodsBetween February and October 2010, we performed 126 operations to correct hallux valgus, of which 126 (100%) were osteodeses. Sixty-one patients (110 procedures) (87% of the total number of hallux valgus procedures) were available for followup at a minimum of 12 months (mean, 23 months; range, 12-38 months). This group formed our study cohort. During the study period, the general indications for this approach included failed conservative measures for pain relief and metatarsophalangeal angle greater than 20° or intermetatarsal angle greater than 9°. Intermetatarsal cerclage sutures were used to realign the first metatarsal and postoperative fibrosis was induced surgically between the first and second metatarsals to maintain its alignment. The radiologic first intermetatarsal angle, metatarsophalangeal angle, and medial sesamoid position were measured by Hardy and Clapham's methods for deformity and correction evaluation. Clinical results were assessed by the AOFAS score.ResultsThe intermetatarsal angle was improved from a preoperative mean of 14° to 7° (p<0.001; Cohen's d=1.8) at followup, the metatarsophalangeal angle from 31° to 18° (p<0.001; Cohen's d=3.1), the medial sesamoid position from position 6 to 3 (p<0.001; Cohen's d=2.4), and AOFAS hallux score from 68 to 96 points (p<0.001). Neither patient age nor deformity severity affected the effectiveness of the osteodesis in correcting all three radiologic parameters; however, the deformities treated in this series generally were mild to moderate (mean intermetatarsal angle, 14°; range, 9°-22°). There were six stress fractures of the second metatarsal (5%), five temporary metatarsophalangeal joint medial subluxations all resolved in one month by the taping-reduction method without surgery, and six metatarsophalangeal joints with reduced dorsiflexion less than 60°.ConclusionsThe osteodesis is a soft tissue nonosteotomy technique, and provided adequate deformity correction and improvement in AOFAS scores for patients with mild to moderate hallux valgus deformities, although a small number of the patients had postoperative stress fractures of the second ray develop. Future prospective studies should compare this technique with osteotomy techniques in terms of effectiveness of the correction, restoration of hallux function, complications, and long-term recurrence.Level of evidenceLevel IV, therapeutic study. See the Instructions for Authors for a complete description of levels of evidence.

Dataset Information

New insights into hallux valgus by whole exome sequencing study.

Publications

New insights into hallux valgus by whole exome sequencing study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets