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Familial Idiopathic Scoliosis: Candidate Regions On Chromosome 10 Within a Subgroup of Triple Curve Families

Nancy H. Miller, M.D.
Johns Hopkins School of Medicine
Baltimore, MD
Coung Vu
Andrew Zorn
Nneka Nzegwu
Abstract from the 2006 SRS Annual Meeting
Introduction: Classification systems in relation to scoliosis have been a hallmark for the clinician in the development of therapeutic options. The triple curve pattern with three distinct lateral curvatures of approximately equal severity has been recognized as distinct and, potentially, unique in its presentation. From a large population of families with FIS, a subpopulation of families with a triple curve pattern was evaluated in order to determine if this curve pattern is distinct on a genetic level.

Methods: With IRB approval, a sample of families with FIS (202 families, 1198 individuals) were recruited and underwent a genomic screen. The results were analyzed using a model independent linkage analysis (SIBPAL). A subgroup of FIS families with at least one member having a triple curve was identified (6 families, 32 individuals). After initial linkage analyses, the group underwent further finemapping analyses utilizing a battery of SNPs.

Results: Analysis of the data from the genomic screen on the triple curve subgroup revealed significant areas on chromosome 10 when analyzed qualitatively and quantitatively in either a single-point or multipoint fashion (see Table).

Conclusion: The utilization of clinical data to discern potential relevance of specific genetic loci in the etiology of FIS has resulted in an area on chromosome 10 that is significant (p <0 .01). The relatively small population of families within this subgroup coupled with the strength data suggests a unique genetic etiological factor associated formation triple curve in FIS.

SNP/STRP
Mb
Qualitative, Singlepoint
Qualitative, Multipoint
Quantitative, Singlepoint
Quantitative, Multipoint
d10s2470
92.354
0.000701
0.004041
0.007814
0.001103
rs12412496
92.536
0.000346
0.004022
0.011539
0.001092
rs3939
92.662
0.021507

0.004014
0.127431
0.001088
rs7913826
93.573
0.069632
0.003996
0.080299
0.001082
rs10748585
94.669
0.219737
0.003988
0.465099
0.001078
d10s185
95.178
0.022096
0.003986
0.09002
0.001078
rs1555870
95.509
0.073489
0.003976
0.004433
0.001065
rs3781270
95.52
0.206511
0.003975
0.675998
0.001065
d10s677
95.954
0.000001
0.003956
0.007957
0.001048
rs1934951
96.788
0.105571
0.003957
0.321312
0.001048
rs7898759
96.79
0.103244
0.003957
0.017961
0.001048
rs7086989
97.19
0.009078
0.003956
0.210914
0.001047
rs2275759
97.614
0.056429
0.003805
0.000551
0.000943
rs12571884
98.372
0.352497
0.003893
0.062166
0.000914
rs2282341
98.433
0.241452
0.003902
0.282501
0.000914
rs10882938
99.201
0.030984
0.003937
0.020489
0.000914
rs7899632
99.99
0.00001
0.003867
0.020909
0.000907
rs1336502
100.5
0.235313
0.055132
0.003769
0.004507
rs4919438
101.996
0.000004
0.012046
0.006746
0.00008
rs1361265
102.864
0.34942
0.017308
0.275746
0.000147
rs946327
102.877
0.069376
0.017338
0.005055
0.000147
d10s1239
103.186
0.015822
0.018038
0.447062
0.000168

Hibbs Award Nominee for Best Basic Science Paper

Last Updated: 03/12/2007
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