Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis systematic review dataset

Background: Adolescent idiopathic scoliosis (AIS) is a structural lateral spinal curvature of ≥ 10° with rotation. Approximately 2–3% of children in most populations are affected with AIS, and this condition is responsible for approximately $1.1 billion in surgical costs to the US healthcare system. Although a genetic factor for AIS has been demonstrated for decades, with multiple potentially contributory loci identified across populations, treatment options have remained limited to bracing and surgery. Methods: The databases MEDLINE (via PubMed), Embase, Google Scholar, and Ovid MEDLINE will be searched and limited to articles in English. We will conduct title and abstract, full-text, and data extraction screening through Covidence, followed by data transfer to a custom REDCap database. Quality assessment will be confirmed by multiple reviewers. Studies containing variant-level data (i.e., GWAS, exome sequencing) for AIS subjects and controls will be considered. Outcomes of interest will include presence/absence of AIS, scoliosis curve severity, scoliosis curve progression, and presence/absence of nucleotide-level variants. Analyses will include odds ratios and relative risk assessments, and subgroup analysis (i.e., males vs. females, age groups) may be applied. Quality assessment tools will include GRADE and Q-Genie for genetic studies. This dataset includes the full extracted information from the 33 included studies in the systematic review.

背景：青少年特发性脊柱侧凸（Adolescent Idiopathic Scoliosis, AIS）是指存在≥10°结构性脊柱侧凸并伴随脊柱旋转的病症。全球多数人群中约2%~3%的儿童受AIS影响，该病症给美国医疗系统带来约11亿美元的外科治疗成本。尽管AIS的遗传因素已被证实数十年，且多个潜在致病位点在不同人群中被相继发现，但目前治疗手段仍仅限于支具治疗与外科手术。
方法：本研究将检索MEDLINE（通过PubMed）、Embase、Google Scholar及Ovid MEDLINE数据库，并限定仅纳入英文文献。将通过Covidence平台依次开展标题与摘要、全文筛选及数据提取工作，随后将数据导入定制化REDCap数据库。质量评估将由多名评审人员共同确认。纳入标准为包含AIS受试者与对照人群的变异水平数据（即全基因组关联研究（Genome-Wide Association Study, GWAS）、外显子组测序）的研究。本研究关注的结局指标包括AIS发病情况、脊柱侧凸弯度严重程度、脊柱侧凸弯度进展情况及核苷酸水平变异的存在与否。分析内容将包括比值比与相对风险评估，且可开展亚组分析（如男性与女性、不同年龄组）。质量评估工具将包括针对遗传学研究的GRADE量表与Q-Genie量表。本数据集包含该系统综述纳入的33项研究的全部提取信息。