The Heritability of Idiopathic Scoliosis in Large Utah Families

PURPOSE: To study the heritability of scoliosis in Utah, a state with large families and a relatively small founder population.

METHODS: Using an IRB approved protocol, extensive family histories were obtained from 62 patients surgically treated for adolescent idiopathic scoliosis at the University of Utah and Primary Children’s Hospital. With permission from patients, family members were contacted about their personal history of scoliosis.

RESULTS: Sixty-two patients were found to have 212 siblings. Only 163 of these siblings were age 16 and older and considered for evaluation. A diagnosis of scoliosis made by a physician was found in 23 of 87 female siblings (26%) and 11 of 76 of male siblings (14 %). The 62 patients with scoliosis have 22 children age 16 years or older. A diagnosis of scoliosis was found in seven of 11 females (63%) and one of 11 males (9%).

DISCUSSION: Utah provides not only unique genealogy resources but also very large families to study the heritability of adolescent idiopathic scoliosis. With an average of 3.4 siblings per patient in our study, trends in disease transmission are more easily discovered. In this population, the recurrence risk for female siblings and daughters is higher than previously reported and should therefore be given consideration when counseling families on the heritablility of scoliosis. Further clinical and molecular genetic investigations of these families will provide an unprecedented opportunity to understand the biology and etiologies of scoliosis.