1.Association of CALCA and RAMP1 gene polymorphisms with migraine in a Chinese population
Xingkai An ; Zhenzhen Yu ; Jie Fang ; Qing Lin ; Congxia Lu ; Qilin Ma ; Hongli Qu
Neurology Asia 2017;22(3):221-225
Background & Objective: The calcitonin gene-related peptide (CGRP) has a central role in the
pathogenesis of migraine, but variations in CGRP-related genes, including the calcitonin gene-related
polypeptide-alpha (CALCA) gene and the receptor activity modifying 1 (RAMP1) gene, have not been
found to link with migraine in Australian population. The goals of this study were to determine whether
variants in the two genes are related to migraine in Chinese population. Methods: Using a case-control
approach, rs3781719 and rs145837941 in the CALCA gene and rs3754701 and rs7590387 at the RAMP1
locus was analyzed in a cohort of 504 migraine cases and 529 ethnically matched controls. Genotyping
was performed using Sequenom MALDI-TOF mass spectrometry iPLEX platform. Results: The CALCA
gene rs145837941 variant was not found in migraine or control group. No significant difference in
genotypic and allelic distribution was observed in the other three polymorphisms between migraine
cases and controls. All the three SNPs were also not selected as significant factors that independently
contributed to susceptibility to migraine in multivariate analysis. In the subgroup analysis, the CALCA
rs3781719 seemed to be a significant risk for migraine with aura, but was not statistically significant
after FDR correction. Moreover, there was no synergistic relationship between the three SNPs in the
multifactor dimensionality reduction analysis for explore locus–locus interactions.
Conclusion: Our data suggested that variants in CALCA gene and RAMP1 gene were not associated
with migraine in the Han-Chinese population.
Calcitonin Gene-Related Peptide
;
Migraine Disorders
2.Correlation between ALOX15 gene single nucleotide polymorphism and its genetic predisposition to coronary heart disease
Yan LU ; Xiaohui XU ; Congxia WANG ; Chunyan ZHANG ; Yisheng SONG ; Xiaoxue GUO ; Yan ZHANG ; Shan JIA ; Weidong MA
Journal of Xi'an Jiaotong University(Medical Sciences) 2016;37(3):339-343
Objective To investigate the correlation between arachidonate 15-lipoxygenase (ALOX15)gene polymorphism and its genetic predisposition to coronary heart disease (CHD)in Han population of Shaanxi Province so as to provide the basis for early diagnosis and prophylaxis of CHD.Methods The single nucleotide polymorphisms (SNPs)of ALOX15’s rs916055,rs2619112,and rs2664593 were measured by using matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF)method in 105 CHD patients (CHD group)and 75 non-CHD patients (control group)who were matched in age and sex.Results The frequencies of genotypes and alleles of SNPs rs916055A/G in CHD group were significantly different from those in control group (P=0.000 1,P=0.000 1).The frequencies of genotypes and alleles of SNP rs2619112A/G in CHD group did not significantly differ from those in control group (P=0.134 2,P=0.143 8).The frequencies of genotypes of SNP rs2664593C/G in CHD group significantly differed from those in control group (P=0.002 7),but the frequencies of alleles were not significantly different (P=0.537 1).Logistic regression analysis indicated that the A allele of SNP rs916055 was an independent risk factor for CHD.Conclusion SNP rs916055 may be related to CHD and its A allele may be the genetic susceptibility gene for CHD.
3.Study on the predictive value of elevated cardiac troponin I and STAF scores in diagnosis of cardiogenic cerebral infarction.
Tao LU ; Zhe LYU ; Xiaolin LU ; Congxia LU ; Qilin MA ; Danni WANG
Chinese Journal of Nervous and Mental Diseases 2019;45(6):331-335
Objective The purpose of this study was to examine the predictive value of elevated cardiac troponin I (cTnI) and Score for the Targeting of Atrial Fibrillation (STAF) in the diagnosis of cardiogenic cerebral infarction. Methods Two hundred twenty-three patients with acute ischemic stroke were recruited in the study including 38 patients in cardiogenic cerebral infarction (CCI) group and 185 in non-cardiac cerebral infarction (NCCI) group. Clinical data were collected. Chemiluminescence immunoassay was used to detect serum cTnI concentrations in patients and STAF scores were calculated. The clinical baseline data of the two groups were compared. A receiver operating characteristic (ROC) curve was used to determine the boundary value of cTnI and STAF scores in diagnosing CCI and in analyzing their predictive value. Results In the CCI group, the patients were older with higher frequency in atrial fibrillation and ischemic heart disease. Moreover, the NIHSS scores, the value of cTnI and STAF scores were significantly higher in CCI group than in the NCCI group (P<0.05). The area under the ROC curve of STAF scores was 0.954, and its 95%CI was between 0.924 and 0.985. The area under the ROC curve of the cTnI value was 0.852, and its 95% CI was between 0.788 and 0.916. The cutoff of STAF scores was 4 points, with a sensitivity of 92.1% and a specificity of 89.2%. The cutoff of cTnI value was 0.0085ng/ml, with a sensitivity of 73.7% and a specificity of 84.9%. Conclusion Serum cTnI value and STAF score have a good predictive value for CCI, and STAF score have a higher value than serum cTnI in predicting the diagnosis of CCI. Clinically, serum cTnI and STAF score may be helpful for etiology classification of acute ischemic stroke.