Neurology · 2006
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
Контролируемое клиническое исследованиеСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Corcia P, Camu W, Halimi J-M, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres C R, French ALS Study Group
Аннотация
BACKGROUND: SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases.
OBJECTIVES: To study the frequency of abnormal SMN1 gene copy numbers and to determine whether SMN2 gene modulates the risk of amyotrophic lateral sclerosis (ALS) or the duration of evolution.
METHOD: The authors studied SMN1 and SMN2 genes in 600 patients with sporadic ALS and 621 controls using a quantitative PCR method.
RESULTS: The authors found an association of ALS with an abnormal copy number (one or three copies) of SMN1 gene (p < 0.0001) with an OR of 2.8 (1.8 to 4.4, 95% CI). There was no association with SMN2 copy numbers and no effect of SMN2 copies on the duration of evolution in ALS independently of SMN1 copy number.
CONCLUSION: Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis. There was no modulator effect of the SMN2 gene.
OBJECTIVES: To study the frequency of abnormal SMN1 gene copy numbers and to determine whether SMN2 gene modulates the risk of amyotrophic lateral sclerosis (ALS) or the duration of evolution.
METHOD: The authors studied SMN1 and SMN2 genes in 600 patients with sporadic ALS and 621 controls using a quantitative PCR method.
RESULTS: The authors found an association of ALS with an abnormal copy number (one or three copies) of SMN1 gene (p < 0.0001) with an OR of 2.8 (1.8 to 4.4, 95% CI). There was no association with SMN2 copy numbers and no effect of SMN2 copies on the duration of evolution in ALS independently of SMN1 copy number.
CONCLUSION: Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis. There was no modulator effect of the SMN2 gene.
Предметные рубрики MeSH
AdultAgedAged, 80 and overAmyotrophic Lateral SclerosisCyclic AMP Response Element-Binding ProteinDNA Mutational AnalysisFemaleFranceGene DosageGenetic Predisposition to DiseaseGenetic TestingHumansMaleMiddle AgedNerve Tissue ProteinsPrevalenceRNA-Binding ProteinsRisk AssessmentRisk FactorsSMN Complex ProteinsSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 Protein