Table 2: Summary of prior genetic linkage studies for IS.

StudyNo. of
Families/Individuals
Region(s)ModelComments

Wise et al. [101]1/146q
distal 10q
18q
Autosomal dominantGenome 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]7/5219p13.3Autosomal dominantRecruited Asian patients in whom scoliosis developed in adolescence

Baghernajad Salehi et al. [103]1/1717p.11Autosomal dominant3 generation Italian family

Justice et al. [104]202/1198Xq23
Xq26.1
X-linked dominantMaximum 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]47/1764q35N/ANo linkage to MTNR1A (Melatonin Receptor 1A) and no mutations in MTNR1A

Bashiardes et al. [106]7 individuals8p23.2-8q11.21Autosomal dominantPericentric inversion in chromosome 8 disrupts SNTG1 (syntrophin). Five of 7 individuals in family have SNTG1 deletion

Miller et al. [107]202/11986, 9, 16 and 17Autosomal dominantModel independent linkage analysis

Alden et al. [108]202/119819p11.3Autosomal dominantThreshold of curvature set at 30°. Fibrillin 3, thromboxane A2 receptor, possible candidates

Baghernajad Salehi et al. [103] 1500 individualsChromosome 3
Chromosome 7
Autosomal dominantPatients’ familial relationships established through database

Gao et al. [109]528qN/ACHD7 Gene polymorphisms are associated with susceptibility to idiopathic scoliosis

Ocaka et al. [110]25/2089q31.2-q34.2;
17q25.3-qter
Autosomal dominantConfirmation of 9q [107]

Raggio et al. [111]7/4812p13.3Autosomal dominant; autosomal recessiveAll families contribute to recessive model. 5/7 families contribute to the dominant model

Gurnett et al. [112]1/2218qAutosomal dominantLOD score 3.86
Scoliosis and pectus excavatum

Sharma et al. [113]4193p26.3 ( )N/AGWAS study. CHL1, DSCAM, CNTNAP2 genes involved in axon guidance

Takahashi et al. [114]1050LBX1 ( )N/AGWAS study. LBX1 is determinant of dorsal spinal neurons; altered somatosensory function