Evidence map›Paper›PMID 39169360›Full record

ArticleJournal of orthopaedic surgery and research2024

Inherited genetic predisposition and imaging concordance in degenerative lumbar scoliosis patients and their descendants.

Zhenguo Shang, Yilei Liu, Hongru Yuan, Yachong Huo, Di Zhang, Weishi Li, Wenyuan Ding, Hui Wang

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Article in Journal of orthopaedic surgery and research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
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3citing papers in PubMed, 1 pooled it
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Zhenguo ShangSpine Department, The Third Hospital of HeBei Medical University, Shijiazhuang, China.
Yilei LiuSpine Department, The Third Hospital of HeBei Medical University, Shijiazhuang, China.
Hongru YuanSpine Department, The Third Hospital of HeBei Medical University, Shijiazhuang, China.
Yachong HuoSpine Department, The Third Hospital of HeBei Medical University, Shijiazhuang, China.
Di ZhangSpine Department, The Third Hospital of HeBei Medical University, Shijiazhuang, China.
Weishi LiOrthopaedic Department of Peking, University Third Hospital, Beijing, China.
Wenyuan DingSpine Department, The Third Hospital of HeBei Medical University, Shijiazhuang, China.
Hui WangSpine Department, The Third Hospital of HeBei Medical University, Shijiazhuang, China. hbmuwanghui@hebmu.edu.cn.

Funding

Natural Science Foundation of Hebei Province H2022206056
6 · The paper itself

Abstract

backgroundOffspring consistently exhibit similar imaging features as their parents in cases of degenerative lumbar scoliosis (DLS). Nevertheless, the role of genetic factors in the pathogenesis of DLS remains uncertain.

methodsA prospective analysis was conducted on 35 patients with DLS and their 36 offspring. Genomic DNA was extracted from 71 blood samples for gene mutation analysis using whole exome sequencin. Various demographic and imaging parameters were compared.

resultsIn 11 pedigrees of the 35 family members with DLS, 13 suspected pathogenic genes were identified. Among the 35 DLS patients, 11/35(31.5%) exhibited susceptibility gene mutations (mutant group), while 24/35(68.5%) had no pathogenic gene mutations (non-mutant group). AVR was more severe in mutant group than that in no-mutant group (p < 0.05). Among the 36 offspring, 11/36(30.6%) cohorts presented susceptibility genes (mutant group), 25/36(69.4%) cohorts presented no pathogenic genes (no-mutant group). More cohorts in the mutant group presented vertebral rotation (72.8%) and scoliosis (45.5%) than those (24%), (12%) in the no-mutant group, respectively (p < 0.05). Among the 36 offspring, 8/36(22.2%) presented scoliosis (study group), they all presented the same scoliosis orientation and apex vertebrae/disc location to their parents, the other 28/36(77.8%) cohorts without scoliosis were enrolled as control group, the mutation rate (62.5%) was higher in study group than that (21.4%) in control group.

conclusionsGenetic influences are significant in the onset of DLS, with affected families showing similar scoliosis patterns and identical apex vertebrae. Moreover, individuals with genetic mutations tend to have more pronounced vertebral rotation and at a higher risk of developing scoliosis.

Indexed as

Genetic Predisposition to DiseaseLumbar VertebraeScoliosisAdultAgedFemaleHumansMaleMiddle AgedMutationPedigreeProspective StudiesDegenerative lumbar scoliosisGenetic predispositionImaging concordance

Identifiers

PMID39169360
PMCPMC11337562

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