Orthopedic Department, Peking University Third Hospital, 49 North Garden Road.
School of Clinical Medicine, Peking University Health Science Center, 38 Xueyuan Road, Haidian District, Beijing 100191, China.
Medicine (Baltimore). 2021 Jan 22;100(3):e23733. doi: 10.1097/MD.0000000000023733.
Adolescent idiopathic scoliosis is a common spinal deformity among children and adolescents worldwide with its etiology uncertain. Over a decade, a single nucleotide polymorphism rs10488682 in tryptophan hydroxylase 1 (TPH1) gene has been investigated in several association studies. We perform this study to summarize the current evidence of TPH1 rs10488682 polymorphisms and adolescent idiopathic scoliosis (AIS).
Six databases were systematically searched: PubMed, Embase, Cochrane Library, Web of Science, Chinese Biomedical Literature, and Wanfang database. Eligible case-control studies related to TPH1 and AIS were selected. Reference lists of them were reviewed for more available studies. Two authors independently screened and evaluated the literature and extracted data. The odds ratios and 95% confidence intervals were derived in association tests. Subgroup analysis was conducted by ethnicity. Sensitivity analysis was performed to examine the stability of the overall results.
A total of 1006 cases and 1557 controls in 3 independent studies were included for meta-analysis. Statistical significance was discovered in heterozygote model (AT vs AA: OR = 1.741, 95%Cl = 1.100-2.753, P = .018 < .05, I2 = 0%), recessive model (AA vs AT + TT: OR = 0.640, 95%Cl = 0.414-0.990, P = .045 < .05, I2 = 0%) and over-dominant model (AT vs AA + TT: OR = 1.366, 95%Cl = 1.115-1.673, P = .003 < .05, I2 = 84.7%) in overall populations. Similar associations were also found in the Caucasian population. No significant associations were found in other genotypic comparisons and allelic comparisons.
Statistically significant correlations were discovered between the TPH1 rs10488682 polymorphisms and AIS. Heterozygous AT genotype seems to be risky with an over-dominant effect. Ethnicity appears to modify the disease association.
Not applicable.
青少年特发性脊柱侧凸是一种常见的儿童和青少年脊柱畸形，其病因尚不确定。十多年来，色氨酸羟化酶 1（TPH1）基因中的单核苷酸多态性 rs10488682 已在几项关联研究中进行了研究。我们进行这项研究是为了总结 TPH1 rs10488682 多态性与青少年特发性脊柱侧凸（AIS）的现有证据。
系统检索了六个数据库：PubMed、Embase、Cochrane 图书馆、Web of Science、中国生物医学文献和万方数据库。选择了与 TPH1 和 AIS 相关的合格病例对照研究。还对它们的参考文献进行了审查，以获取更多可用的研究。两位作者独立筛选和评估文献并提取数据。在关联检验中得出了比值比和 95%置信区间。按种族进行亚组分析。进行敏感性分析以检查总体结果的稳定性。
共有 3 项独立研究中的 1006 例病例和 1557 例对照纳入荟萃分析。在杂合子模型（AT 与 AA：OR=1.741，95%Cl=1.100-2.753，P=0.018<.05，I2=0%）、隐性模型（AA 与 AT+TT：OR=0.640，95%Cl=0.414-0.990，P=0.045<.05，I2=0%）和超显性模型（AT 与 AA+TT：OR=1.366，95%Cl=1.115-1.673，P=0.003<.05，I2=84.7%）中发现了统计学意义。在高加索人群中也发现了类似的关联。在其他基因型比较和等位基因比较中未发现显著关联。
TPH1 rs10488682 多态性与 AIS 之间存在统计学显著相关性。杂合 AT 基因型似乎具有风险，具有超显性效应。种族似乎改变了疾病的相关性。
不适用。
