AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent...AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopia patients (-0.75 D <= spherical refraction <= -8.00 D) and 100 sex -matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy -Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.展开更多
目的研究基质金属蛋白酶-1(matri xmetalloproteinases-1,MMP-1)(-1607)1G/2G基因单核苷酸多态性与云南汉族鼻咽癌发病风险、各临床参数及预后相关性。方法按病例对照研究,利用聚合酶链反应-限制性片段长度多态性(restriction fragment ...目的研究基质金属蛋白酶-1(matri xmetalloproteinases-1,MMP-1)(-1607)1G/2G基因单核苷酸多态性与云南汉族鼻咽癌发病风险、各临床参数及预后相关性。方法按病例对照研究,利用聚合酶链反应-限制性片段长度多态性(restriction fragment lengthpolymorphism-PCR,RFLP-PCR),对241例云南籍汉族鼻咽癌患者和272例云南籍汉族健康对照进行基因分型,分析基因型与云南汉族鼻咽癌发病风险及预后关系。结果分别携带1G2G、2G2G基因型个体罹患鼻咽癌风险性是携带1G1G基因型者3.10倍和9.93倍;2G等位基因与T分期、颈淋巴结转移、临床分期明显相关(P<0.05)。吸烟与MMP-1(-1607)2G等位基因存在相加交互作用;MMP-12G等位基因与患者预后不良相关,且2G2G基因型为独立预后影响因素。结论MMP-1(-1607)1G/2G多态性是云南汉族鼻咽癌遗传易感因素,与吸烟暴露呈现交互作用,同时与鼻咽癌预后相关。展开更多
目的对通过Affymetrix Genome-W ide SNP Array 6.0全基因组芯片扫描发现,国外曾经报道与精神分裂症关联的NCAM1基因在儿童青少年精神分裂症家系中进行验证。方法选择了100例儿童青少年发病的精神分裂症患者及其父母,通过5个NCAM1基因...目的对通过Affymetrix Genome-W ide SNP Array 6.0全基因组芯片扫描发现,国外曾经报道与精神分裂症关联的NCAM1基因在儿童青少年精神分裂症家系中进行验证。方法选择了100例儿童青少年发病的精神分裂症患者及其父母,通过5个NCAM1基因内的单核甘酸多态性位点(rs10891495,rs1245133,rs1821693,rs686050,rs12794326)经高分辨率溶解曲线(H igh ResolutionMelting,HRM)进行基因分型后,用HaploV iew 4.1软件进行统计分析。结果未证实上述位点及所构建的单倍型与精神分裂症关联(P>0.05)。结论 (1)不支持NCAM1基因与精神分裂症病因关联;(2)Affymetrix6.0全基因组SNP芯片关联分析产生的假阳性结果可经家系连锁不平衡分析验证。展开更多
基金Supported by National Natural Science Foundation of China (No.81341105)Sichuan Provincial Health Department (No.120442)
文摘AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopia patients (-0.75 D <= spherical refraction <= -8.00 D) and 100 sex -matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy -Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.
文摘目的研究基质金属蛋白酶-1(matri xmetalloproteinases-1,MMP-1)(-1607)1G/2G基因单核苷酸多态性与云南汉族鼻咽癌发病风险、各临床参数及预后相关性。方法按病例对照研究,利用聚合酶链反应-限制性片段长度多态性(restriction fragment lengthpolymorphism-PCR,RFLP-PCR),对241例云南籍汉族鼻咽癌患者和272例云南籍汉族健康对照进行基因分型,分析基因型与云南汉族鼻咽癌发病风险及预后关系。结果分别携带1G2G、2G2G基因型个体罹患鼻咽癌风险性是携带1G1G基因型者3.10倍和9.93倍;2G等位基因与T分期、颈淋巴结转移、临床分期明显相关(P<0.05)。吸烟与MMP-1(-1607)2G等位基因存在相加交互作用;MMP-12G等位基因与患者预后不良相关,且2G2G基因型为独立预后影响因素。结论MMP-1(-1607)1G/2G多态性是云南汉族鼻咽癌遗传易感因素,与吸烟暴露呈现交互作用,同时与鼻咽癌预后相关。
