ApoE基因多态性与动脉粥样硬化性脑梗死的相关性研究

目的分析ApoE基因与血脂和颈动脉粥样硬化程度的关系,进一步探讨ApoE基因与动脉粥样硬化性脑梗死的相关性。方法采用病例-对照研究的方法,收集厦门大学附属第一医院神经内科的95例缺血性脑卒中和65例非缺血性脑卒中住院患者。检测患者的ApoE基因型、血脂及颈动脉粥样硬化程度。结果与E2/E3比较,基因型E3/E3、E3/E4可能是缺血性脑卒中的保护因素;缺血性和非缺血性脑卒中患者在血浆TC、LDL-C、ApoB含量比较上均为E3/E4> E3/E3>E2/E3,且2组血浆LDL-C浓度在E3/E4与E2/E3、E3/E3比较中差异有统计学意义(P<0. 05); LDL-C、ApoB与2组颈动脉粥样硬化斑块程度有关,是其危险因素;与基因型E2/E3比较,E3/E4在有斑块组中较无斑块组比例高。结论基因型E3/E3、E3/E4可能是缺血性脑卒中的保护因素。基因型E3/E4可能是导致患者颈动脉粥样斑块形成的危险因素,基因型E3/E4通过影响患者的血浆LDL-C水平进一步导致动脉粥样硬化斑块的形成,但与动脉粥样硬化性脑梗死的相关性研究有待更大的样本量更进一步的研究

PRDM16 rs2651899 Variant Is a Risk Factor for Chinese Common Migraine Patients

Natural Science Foundation [2009D001]; Fujian Provincial Department of Science and Technology [2012D062]ObjectiveRecent genome-wide association studies (GWAS) have identified 3 loci in or near PRDM16 (1p36.32, rs2651899), LRP1 (12q13.3, rs11172113) and TRPM8 (2q37.1, rs10166942) in the population-based Women's Genome Health Study (WGHS) of migraine, and 2 loci in or near TRPM8 and LRP1 were repeated in European GWAS study. To evaluate whether the same variants are related to migraine in Chinese population, we investigated migraine with aura (MA) and migraine without aura (MO) patients of Chinese Han ethnicity in mainland China. MethodsA case-control study in a cohort of 207 migraine cases and 205 ethnically matched controls was conducted by using the dual-color fluorescence resonance energy transfer (FRET) probes analysis. ResultsThe genotypes of all polymorphisms in 2 groups followed the Hardy-Weinberg equilibrium. We found significant differences in allele distribution of rs2651899 variant in PRDM16 between MO patients and control subjects (P=.049, OR=1.335, 95%CI 1.001-1.782), and there were no difference between MA patients and controls in the frequency of genotype and allele. Also, no significant differences in genotypic and allelic distributions between MA or MO patients and controls were observed in the polymorphisms of rs10166942 of TRPM8 and rs11172113 of LRP1, and there was no significant difference comparing male with female in all loci. ConclusionOur data suggested that rs2651899 variant in PRDM16 plays a potential role in Chinese MO migraine susceptibility, and gender may not play a role

Association of MTHFR C677T Polymorphism with Susceptibility to Migraine in the Chinese population

Natural Science Foundation [2009D001]; Fujian Provincial Department of Science and Technology [2012D062]A number of genes have been implicated in the pathogenesis of migraine, a common neurological disorder also in China. However, data on association of genetic variations with migraine susceptibility among Chinese, which might be different from people of other ethnic background, are still scarce. We have therefore investigated the association of polymorphisms in four genes, MTHFR C677T, ACE I/D, MAOA T941G and TNF-beta G252A, which are considered to be with risk of migraine. A case-control study including a cohort of 151 migraine cases and 137 ethnically matched controls was conducted. The genotypes of each polymorphism followed the Hardy-Weinberg equilibrium in the two groups. Genotypic distribution of MTHFR C677T was significantly different with higher frequency of allele T in the migraine cohort as compared with that in controls (OR = 1.686, 95%CI: 1.175-2.420, P=0.004). No difference was found between migraine with aura (MA) patients and controls, but T allele frequency was significantly higher in migraine without aura (MO) than in controls (OR= 1.744, 95% CI: 1.202-2.532, P= 0.003). No difference in genotypic and allelic distributions was observed between migraine patients and controls for the other polymorphisms, including ACE I/D, MAOA T941G, and TNF-beta G252A. Our data suggested that MTHFR C677T polymorphism plays a role in Chinese migraine susceptibility, especially in MO. Crown Copyright (C) 2013 Published by Elsevier Ireland Ltd. All rights reserved