ABSTRACT
The SpI (1546G>T) polymorphism of the CollA1 gene and the FokI (3663T>C) polymorphism of the vitamin D receptor gene have been studied in patients with syringomyelia and controls of different ethnic origin (Tartars, Bashkirs, Russians). Ethnic differences in allele and genotype frequencies have been revealed in the control group. Frequency of the s allele of the CollA1 gene was higher in Russian patients and that of the FokI FF genotype in Tartar patients. The data obtained suggest a possible role of these genes in the pathogenesis of syringomyelia.
Subject(s)
Collagen Type I/genetics , DNA/genetics , Polymorphism, Genetic , Receptors, Calcitriol/genetics , Syringomyelia/genetics , Alleles , Collagen Type I/metabolism , Collagen Type I, alpha 1 Chain , Electrophoresis, Polyacrylamide Gel , Ethnicity/genetics , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Polymerase Chain Reaction , Receptors, Calcitriol/metabolism , Russia/epidemiology , Syringomyelia/ethnology , Syringomyelia/metabolismABSTRACT
OBJECTIVE: To determine the prevalence of syringomyelia in a defined population in New Zealand and measure the prevalence of syringomyelia in the three main ethnic groups (Maori, Pacific people and Caucasians/others) living in this region. METHODS: A retrospective study of all confirmed cases of syringomyelia diagnosed in residents of northern New Zealand from 1961 to 2003. RESULTS: In all, syringomyelia was diagnosed in 137 patients. The mean age at onset of symptoms was 27.5 years and mean age at diagnosis was 32.6 years. The incidence of new cases increased from 0.76/100,000 a year between 1962 and 1971 to 4.70/100,000 a year by 1992-2001. The prevalence of syringomyelia in 2003 was 8.2/100,000 people: 5.4/100,000 in Caucasians or others, 15.4/100,000 in Maori and 18.4/100,000 in Pacific people (chi2 = 37.0, p<0.0001). Syringomyelia was more often associated with an isolated Chiari I malformation in Pacific people (84.4%) as compared with 42.9% of Maori and 38.2% of Caucasians or others (chi2 = 62.3, p<0.0001). CONCLUSION: The prevalence of syringomyelia is higher in northern New Zealand than in studies carried out before the advent of magnetic resonance imaging. The prevalence is particularly high in Maori and Pacific people. The cause of the ethnic differences in the prevalence of syringomyelia identified in this study is unexplained and warrants further investigation.
Subject(s)
Native Hawaiian or Other Pacific Islander , Syringomyelia/ethnology , Syringomyelia/epidemiology , White People , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , New Zealand/epidemiology , New Zealand/ethnology , Prevalence , Retrospective StudiesABSTRACT
A manual and computerized search of orthopaedic outpatient records over a 10-year period (1990-2000) identified 386 new patients younger than age 20 years with a diagnosis of scoliosis. Patients were grouped according to race and their numbers were compared with predicted values calculated from New Zealand census data. Of the various etiological categories, idiopathic scoliosis and scoliosis secondary to syringomyelia showed significant ethnic variance. For idiopathic scoliosis, higher numbers than predicted were observed in Europeans and lower numbers than predicted were observed in Polynesians. Conversely, for scoliosis secondary to syringomyelia, relatively higher numbers were observed in Polynesians and relatively lower numbers in Europeans and other ethnic groups. The demonstration in this study of a low incidence of idiopathic scoliosis and conversely a high incidence of syringomyelia in Polynesians has led the authors to reconsider the indications for magnetic resonance imaging when patients of this ethnic group are referred with scoliosis that initially appears to be idiopathic.
