OBJECTIVE: 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. METHODS: 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. RESULTS AND CONCLUSIONS: 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 FAM129B and CERCAM on chromosome 9 and SYT1, GNAO1, and CDH3 on chromosome 16.
OBJECTIVE: 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. METHODS: 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. RESULTS AND CONCLUSIONS: 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 FAM129B and CERCAM on chromosome 9 and SYT1, GNAO1, and CDH3 on chromosome 16.
Authors: J B Fan; A Oliphant; R Shen; B G Kermani; F Garcia; K L Gunderson; M Hansen; F Steemers; S L Butler; P Deloukas; L Galver; S Hunt; C McBride; M Bibikova; T Rubano; J Chen; E Wickham; D Doucet; W Chang; D Campbell; B Zhang; S Kruglyak; D Bentley; J Haas; P Rigault; L Zhou; J Stuelpnagel; M S Chee Journal: Cold Spring Harb Symp Quant Biol Date: 2003
Authors: Kate R Rosenbloom; Timothy R Dreszer; Michael Pheasant; Galt P Barber; Laurence R Meyer; Andy Pohl; Brian J Raney; Ting Wang; Angie S Hinrichs; Ann S Zweig; Pauline A Fujita; Katrina Learned; Brooke Rhead; Kayla E Smith; Robert M Kuhn; Donna Karolchik; David Haussler; W James Kent Journal: Nucleic Acids Res Date: 2009-11-17 Impact factor: 16.971
Authors: Brooke Sadler; Gabe Haller; Lilian Antunes; Xavier Bledsoe; Jose Morcuende; Philip Giampietro; Cathleen Raggio; Nancy Miller; Yared Kidane; Carol A Wise; Ina Amarillo; Nephi Walton; Mark Seeley; Darren Johnson; Conner Jenkins; Troy Jenkins; Matthew Oetjens; R Spencer Tong; Todd E Druley; Matthew B Dobbs; Christina A Gurnett Journal: J Med Genet Date: 2019-02-25 Impact factor: 6.318
Authors: Erin E Baschal; Kandice Swindle; Cristina M Justice; Robin M Baschal; Anoja Perera; Cambria I Wethey; Alex Poole; Olivier Pourquié; Olivier Tassy; Nancy H Miller Journal: Spine Deform Date: 2015-07
Authors: Jillian G Buchan; David M Alvarado; Gabe Haller; Hyuliya Aferol; Nancy H Miller; Matthew B Dobbs; Christina A Gurnett Journal: Clin Orthop Relat Res Date: 2014-07-09 Impact factor: 4.176
Authors: Erin E Baschal; Cambria I Wethey; Kandice Swindle; Robin M Baschal; Katherine Gowan; Nelson L S Tang; David M Alvarado; Gabe E Haller; Matthew B Dobbs; Matthew R G Taylor; Christina A Gurnett; Kenneth L Jones; Nancy H Miller Journal: G3 (Bethesda) Date: 2014-12-12 Impact factor: 3.154
Authors: Elizabeth A Terhune; Melissa T Cuevas; Anna M Monley; Cambria I Wethey; Xiaomi Chen; Maria V Cattell; Melisa N Bayrak; Morgan R Bland; Brittan Sutphin; George Devon Trahan; Matthew R G Taylor; Lee A Niswander; Kenneth L Jones; Erin E Baschal; Lilian Antunes; Matthew Dobbs; Christina Gurnett; Bruce Appel; Ryan Gray; Nancy Hadley Miller Journal: Hum Mutat Date: 2021-02-07 Impact factor: 4.878
Authors: Hélène Mathieu; Shunmoogum A Patten; Jose Antonio Aragon-Martin; Louise Ocaka; Michael Simpson; Anne Child; Florina Moldovan Journal: Sci Rep Date: 2021-05-26 Impact factor: 4.379