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• W2013643587 abstract "<b><i>Objective:</i></b> Custom genotyping of markers in families with familial idiopathic scoliosis were used to fine-map candidate regions on chromosomes 9 and 16 in order to identify candidate genes that contribute to this disorder and prioritize them for next-generation sequence analysis. <b><i>Methods:</i></b> Candidate regions on 9q and 16p–16q, previously identified as linked to familial idiopathic scoliosis in a study of 202 families, were genotyped with a high-density map of single nucleotide polymorphisms. Tests of linkage for fine-mapping and intra-familial tests of association, including tiled regression, were performed on scoliosis as both a qualitative and quantitative trait. <b><i>Results and Conclusions:</i></b> Nominally significant linkage results were found for markers in both candidate regions. Results from intra-familial tests of association and tiled regression corroborated the linkage findings and identified possible candidate genes suitable for follow-up with next-generation sequencing in these same families. Candidate genes that met our prioritization criteria included <i>FAM129B</i> and <i>CERCAM</i> on chromosome 9 and <i>SYT1, GNAO1, </i>and <i>CDH3</i> on chromosome 16." @default.
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• W2013643587 date "2012-01-01" @default.
• W2013643587 modified "2023-09-30" @default.
• W2013643587 title "Intra-Familial Tests of Association between Familial Idiopathic Scoliosis and Linked Regions on 9q31.3–q34.3 and 16p12.3–q22.2" @default.
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• W2013643587 doi "https://doi.org/10.1159/000343751" @default.
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