Table 2.

Summary of Prior AIS Linkage Studies

Reference	N (families/subjects)*	Location	Methods	Comments
18	52/123 (affected)	1p, 8q, 10q	“Affecteds only” nonparametric linkage, TDT	CHD7 identified as candidate gene on chromosome 8
16	202/1198	1,6,8,9,16 and17	Genomic screen and model independent analysis	As threshold for scoliosis curvature increased, chromosomes 9 and 16 became more significant
17	202/1198	5p13, 13q13.3, 13q32	Nonparametric sib pair, linkage disequilibrium	Kyphoscoliotic subgroup analysis
11	1/14	6q distal 10q 18q	Two point parametric and nonparametric multipoint linkage	Genome wide search in one family (7 affected members), followed by testing of “hot spots” in a second large family
13	1/17	17p11	Parametric linkage	Overlaps duplication in CMT type 1A
12	7/52	19p13.3	Parametric and nonparametric linkage	Recruited patients in whom scoliosis developed in adolescence
15	202/1198	19p13	Nonparametric sib pair, parametric linkage	Subgroup analysis limited to kindreds in which at least 1 member had curve ≥30°
14	202/1198	Xq23, Xq26.1	Nonparametric sib pair, parametric linkage	Estimate that 15% of AIS families display X-linkage
41	25/116(affected)	9q31.2-q34.2; 17q25.3-qtel	Two point parametric and nonparametric multipoint	Confirmation of ref. 15

^*NR = not reported.