中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2010年
6期
427-431
,共5页
李晓光%林一聪%谢曼青%张江鹄%刘明生%李本红%赵燕环%任海涛%崔丽英
李曉光%林一聰%謝曼青%張江鵠%劉明生%李本紅%趙燕環%任海濤%崔麗英
리효광%림일총%사만청%장강곡%류명생%리본홍%조연배%임해도%최려영
肌萎缩侧索硬化%多态性,单核苷酸%光谱法,质量,基质辅助激光解吸电离%疾病易感性
肌萎縮側索硬化%多態性,單覈苷痠%光譜法,質量,基質輔助激光解吸電離%疾病易感性
기위축측색경화%다태성,단핵감산%광보법,질량,기질보조격광해흡전리%질병역감성
Amyotrophic lateral sclerosis%Polymorphism,single nucleotide%Spectrometry,mass,matrix-assisted laser desorption-ionization%Disease susceptibility
目的 肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是由上、下运动神经元进行性丢失引起的一种致死性疾病,散发性ALS(SALS)近90%,目前认为是一种复杂性疾病.已有数个ALS全基因组关联分析研究先后报道了若干与增加ALS发病风险相关的单核苷酸多态(SNP)位点,但亚洲人资料较少.我们将筛查与增加中国人SALS致病风险相关的SNP.方法 提取样本外周血基因组DNA,进行病例组和对照组年龄、性别匹配,质谱法分型筛选出的SNP位点并进行关联分析.结果 完成86例SALS患者与94名对照者rs6700125、rs10260404、rs1942239、rs2279812、rs2405657、rs558889、rs6922711、rs9351470等8个SNP位点的基因分型,统计分析后两组差异无统计学意义.合并Cronin等研究数据后rs1942239(邻近基因GALNT1)的P值减小(由1.48×10-4减少为9.07×10-5),关联性增强.rs558889的病例组基因频率偏离Hardy-Weinberg平衡,可能存在关联.结论 rs1942239和rs558889两个SNP可能与增加中国人SALS致病风险相关,与rs1942239邻近的GALNT1基因和rs558889附近的ANK1基因值得进一步研究.
目的 肌萎縮側索硬化(amyotrophic lateral sclerosis,ALS)是由上、下運動神經元進行性丟失引起的一種緻死性疾病,散髮性ALS(SALS)近90%,目前認為是一種複雜性疾病.已有數箇ALS全基因組關聯分析研究先後報道瞭若榦與增加ALS髮病風險相關的單覈苷痠多態(SNP)位點,但亞洲人資料較少.我們將篩查與增加中國人SALS緻病風險相關的SNP.方法 提取樣本外週血基因組DNA,進行病例組和對照組年齡、性彆匹配,質譜法分型篩選齣的SNP位點併進行關聯分析.結果 完成86例SALS患者與94名對照者rs6700125、rs10260404、rs1942239、rs2279812、rs2405657、rs558889、rs6922711、rs9351470等8箇SNP位點的基因分型,統計分析後兩組差異無統計學意義.閤併Cronin等研究數據後rs1942239(鄰近基因GALNT1)的P值減小(由1.48×10-4減少為9.07×10-5),關聯性增彊.rs558889的病例組基因頻率偏離Hardy-Weinberg平衡,可能存在關聯.結論 rs1942239和rs558889兩箇SNP可能與增加中國人SALS緻病風險相關,與rs1942239鄰近的GALNT1基因和rs558889附近的ANK1基因值得進一步研究.
목적 기위축측색경화(amyotrophic lateral sclerosis,ALS)시유상、하운동신경원진행성주실인기적일충치사성질병,산발성ALS(SALS)근90%,목전인위시일충복잡성질병.이유수개ALS전기인조관련분석연구선후보도료약간여증가ALS발병풍험상관적단핵감산다태(SNP)위점,단아주인자료교소.아문장사사여증가중국인SALS치병풍험상관적SNP.방법 제취양본외주혈기인조DNA,진행병례조화대조조년령、성별필배,질보법분형사선출적SNP위점병진행관련분석.결과 완성86례SALS환자여94명대조자rs6700125、rs10260404、rs1942239、rs2279812、rs2405657、rs558889、rs6922711、rs9351470등8개SNP위점적기인분형,통계분석후량조차이무통계학의의.합병Cronin등연구수거후rs1942239(린근기인GALNT1)적P치감소(유1.48×10-4감소위9.07×10-5),관련성증강.rs558889적병례조기인빈솔편리Hardy-Weinberg평형,가능존재관련.결론 rs1942239화rs558889량개SNP가능여증가중국인SALS치병풍험상관,여rs1942239린근적GALNT1기인화rs558889부근적ANK1기인치득진일보연구.
Objective Amyotrophic lateral sclerosis(ALS)is a progressive paralytic disorder resulting from the degeneration of upper and lower motor neurons.Sporadic ALS(SALS)accounm for majority of patients.ALS is a kind of complex disorder.There were several single nucleotide polymorphism (SNP)reported to be associated with SALS in recently published genome-wide association(GWA)study,but there are few data from Asia ALS population and no report focus on SNP which may associated with SALS of Chinese origin.Our study is to screen and add the SNPs related to the risks of SALs in Chinese.Methods Eighty-six individuals with SALS and 94 matched controls were recruited for our study and genomic DNA from blood samples was extracted.Genotypes were determined by a matrix assisted laser desorption/ionization time of flisht mass spectrometry based approach followed by association analysis. Results Individual genotype data for 8 SNPs,rs6700125,rs10260404, rs1942239,rs2279812,rs2405657,rs558889,rs6922711 and rs935 1470 in Chinese population showed no significant association with sporadic ALS.Combining genotype data from published GWA,rs1942239 gained in strength of allelic association(P value decreased to 9.07×10-5 from 1.48×10-4),and rs558889 deviated Hardy-Weinberg equilibrium at ALS case group which may be associated with susceptibility.Conclusions SNP rs1942239 and rs558889 may contribute to susceptibility of sporadic ALS in Chinese patient.The larger sample studies are warranted to confirm the association.
