Study No. of Region(s) Model Comments Wise et al. [101 ] 1/14 6q Autosomal dominant Genome wide search in one family of French Acadian and English descent (7 affected members), with validation of “hot spots” in a second large family Chan et al. [102 ] 7/52 19p13.3 Autosomal dominant Recruited Asian patients in whom scoliosis developed in adolescence
Baghernajad Salehi et al. [103 ] 1/17 17p.11 Autosomal dominant 3 generation Italian family Justice et al. [104 ] 202/1198 Xq23 X-linked dominant Maximum lod score of 1.69 (theta = 0.2) identified at marker GATA172D05. A lod score of 2.23 for this marker was found in one family with six affected individuals Morcuende et al. [105 ] 47/176 4q35 N/A No linkage to MTNR1A (Melatonin Receptor 1A) and no mutations in MTNR1A Bashiardes et al. [106 ] 7 individuals 8p23.2-8q11.21 Autosomal dominant Pericentric inversion in chromosome 8 disrupts SNTG1 (syntrophin). Five of 7 individuals in family have SNTG1 deletion Miller et al. [107 ] 202/1198 6, 9, 16 and 17 Autosomal dominant Model independent linkage analysis Alden et al. [108 ] 202/1198 19p11.3 Autosomal dominant Threshold of curvature set at 30°. Fibrillin 3, thromboxane A2 receptor, possible candidates
Baghernajad Salehi et al. [103 ]
1500 individuals Chromosome 3 Autosomal dominant Patients’ familial relationships established through database Gao et al. [109 ] 52 8q N/A CHD7 Gene polymorphisms are associated with susceptibility to idiopathic scoliosis
Ocaka et al. [110 ] 25/208 9q31.2-q34.2; Autosomal dominant Confirmation of 9q [107 ] Raggio et al. [111 ] 7/48 12p13.3 Autosomal dominant; autosomal recessive All families contribute to recessive model. 5/7 families contribute to the dominant model Gurnett et al. [112 ] 1/22 18q Autosomal dominant LOD score 3.86 Sharma et al. [113 ] 419 3p26.3 (
) N/A GWAS study. CHL1 , DSCAM, CNTNAP2 genes involved in axon guidance Takahashi et al. [114 ] 1050 LBX1 (
)N/A GWAS study. LBX1 is determinant of dorsal spinal neurons; altered somatosensory function
