Association of Polymorphisms of COL6A3 Gene with Sporadic Isolated Dystonia in China

VernacularTitle:COL6A3基因多态性与中国散发孤立性肌张力障碍的关联
Author: Ling-Yan MA ¹ ; Hui-Zi MA ; Tao FENG
Author Information

1. 首都医科大学附属北京天坛医院神经变性病科
Keywords: isolated dystonia; COL6A3; polymorphism; gene
From: Chinese Journal of Rehabilitation Theory and Practice 2018;24(3):338-341
CountryChina
Language:Chinese
Abstract: Objective To explore the relationship between the polymorphisms of exon 41 in COL6A3 and sporadic isolated dystonia in China. Methods A total of 127 outpatients with isolated dystonia and other 130 age-and gender-matched healthy controls were collected their blood samples. The single nucleotide polymorphism (SNP) was screened from 1000 Genomes Project. Genotype was detected with polymerase chain reaction-restriction fragment length polymorphism and the genotype and allele distribution were compared between the patients and the controls. Results Two SNPs in exon 41 in COL6A3 were found,named rs1131296 and rs2270669.There was no difference be-tween the patients and the controls in both genotype and allele(χ2<1.829,P>0.05).There was no difference in the age of onset among the patients with various genotypes(P>0.05). Conclusion Polymorphism of exon 41 in COL6A3 gene may not contribute to risk of sporadic isolated dystonia in China.