Al-Othman Abdallah Ahmad, Sadat-Ali Mir, Amer Ahmed Sh, Al-Dakheel Dakheel A
Department of Orthopaedic Surgery, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam and King Fahd Hospital of the University, Alkhobar, Saudi Arabia.
Department of Orthopaedic Surgery, King Fahd Hospital of the University, Alkhobar, Saudi Arabia.
Asian Spine J. 2017 Apr;11(2):167-173. doi: 10.4184/asj.2017.11.2.167. Epub 2017 Apr 12.
Prospective case-controlled study.
This study aimed to assess genetic influence in Saudi Arabian children with adolescent idiopathic scoliosis (AIS).
The genetic locus linked to chromosome 19p for idiopathic scoliosis has been described. A pilot study conducted at King Fahd Hospital of the University, Al-Khobar showed that three microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3 were significant in Saudi Arabian females compared with healthy subjects.
A total of 100 unrelated Saudi Arabian girls treated for AIS, their parents, healthy siblings, and healthy subjects were recruited for genetic analysis of markers on chromosome 19p13.3. After informed consent was obtained from their parents, blood samples were collected and parametric and nonparametric linkage analyses were performed using GENEHUNTER ver. 2.1. Multipoint linkage analysis was used to specify an autosomal dominant trait with a gene frequency of 0.01 and an estimated penetrance of 80% at the genotypic and allelic levels.
Five hundred blood samples were collected and analyzed for microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3. Comparison among patients, family members, and healthy subjects revealed no significant association between markers and scoliosis at the genotypic level: D19S216 (=0.21), D19S894 (=0.37), and DS1034 (=0.25). However, at the allelic level, a statistically significant association was observed for marker DS1034 (=0.008), and marker D19S216 showed significance between fathers and patients (<0.001) compared with patients and mothers. The other two markers, D19S216 (=0.25) and D19S894 (=0.17), showed no significant association between patients and mothers.
At the allelic level, marker DS1034 was significantly associated with AIS patients and their fathers. This allelic marker on chromosome 19p13.3 appears to be important in AIS etiology.
前瞻性病例对照研究。
本研究旨在评估沙特阿拉伯青少年特发性脊柱侧凸（AIS）患儿的遗传影响。
已描述了与19号染色体短臂相关的特发性脊柱侧凸基因座。在胡拜尔法赫德国王大学医院进行的一项初步研究表明，与健康受试者相比，19号染色体短臂13.3区域的三个微卫星标记（D19S216、D19S894和DS1034）在沙特阿拉伯女性中具有显著意义。
共招募了100名接受AIS治疗的无血缘关系的沙特阿拉伯女孩、她们的父母、健康的兄弟姐妹以及健康受试者，对19号染色体短臂13.3区域的标记进行基因分析。在获得其父母的知情同意后，采集血样，并使用GENEHUNTER 2.1版进行参数和非参数连锁分析。采用多点连锁分析来确定一种常染色体显性性状，其基因频率为0.01，在基因型和等位基因水平上估计的外显率为80%。
采集并分析了500份血样，检测19号染色体短臂13.3区域的微卫星标记（D19S216、D19S894和DS1034）。患者、家庭成员和健康受试者之间的比较显示，在基因型水平上，标记与脊柱侧凸之间无显著关联：D19S216（P=0.21）、D19S894（P=0.37）和DS1034（P=0.25）。然而，在等位基因水平上，观察到标记DS1034具有统计学显著关联（P=0.008），与患者和母亲相比，标记D19S216在父亲与患者之间显示出显著差异（P<0.001）。另外两个标记，D19S216（P=0.25）和D19S894（P=0.17），在患者与母亲之间未显示出显著关联。
在等位基因水平上，标记DS1034与AIS患者及其父亲显著相关。19号染色体短臂13.3区域的这个等位基因标记似乎在AIS病因学中具有重要意义。
