Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls

• Published in: Asian spine journal Vol. 11; no. 2; pp. 167 - 173
• Main Authors: Al-Othman, Abdallah Ahmad, Sadat-Ali, Mir, Amer, Ahmed Sh, Al-Dakheel, Dakheel A
• Format: Journal Article
• Language: English
• Published: Korea (South) Korean Society of Spine Surgery 01.04.2017; Korean Spine Society; 대한척추외과학회
• Subjects: Adolescent idiopathic scoliosis; Basic Study; Children & youth; Chromosome 19; Chromosome 19p13.3; Chromosomes; Etiology; Families & family life; Fathers; Gene frequency; Genetic analysis; Genetic markers; Girls; Linkage analysis; Microsatellites; Mothers; Patients; Saudi Arabia; Scoliosis; Statistical analysis; 정형외과학; Saudi Arabia; Saudi Arabia; Chromosome 19p13.3; Adolescent idiopathic scoliosis
• ISSN: 1976-1902; 1976-7846
• DOI: 10.4184/asj.2017.11.2.167

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.