Dataset Information

Migraine Susceptibility Genes in Han Chinese of Fujian Province.

ABSTRACT: BACKGROUND AND PURPOSE:Five single-nucleotide polymorphisms (SNPs) (rs4379368, rs10504861, rs10915437, rs12134493 and rs13208321) were recently identified in a Western population with migraine. These migraine-associated SNPs have not been evaluated in a Han Chinese population. This study investigated the associations of specific SNPs with migraine in a Han population. METHODS:This was a case-control study of Han Chinese residing in Fujian Province. Polymerase chain reaction-restriction-fragment-length polymorphism analysis and direct sequencing were used to characterize the relationships of SNPs in a control group of 200 subjects and in a migraine group of 201 patients. RESULTS:The frequencies of the five SNPs did not differ between patients with migraine and healthy non migraine controls. However, subgroup analysis indicated certain SNPs were more strongly associated with migraine with aura or migraine without aura than with controls. The CT genotype of rs4379368 was more common in migraine patients with aura (75%) than in migraine patients without aura (47.9%) and controls (48.5%) (p<0.05), and the TT genotype of rs10504861 was more common in migraine patients with aura than in controls (8.3% vs. 0.5%) (p<0.05). Meanwhile, the CC genotype of rs12134493 was less common in migraine patients without aura than in controls (80.6% vs. 88%) (p<0.05). CONCLUSIONS:Our findings suggest that the rs4379368 and rs10504861 SNPs are markers for susceptibility to migraine with aura and that rs12134493 is a marker for the risk of migraine without aura in this Han population. Future studies should further explore if these associations vary by ethnicity.

SUBMITTER: Lin QF

PROVIDER: S-EPMC5242144 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Migraine Susceptibility Genes in Han Chinese of Fujian Province.

Lin Qi Fang QF Chen Zi Chun ZC Fu Xian Guo XG Yang Jing J Cao Luo Yuan LY Yao Long Teng LT Xin Yong Tong YT Huang Gen Bin GB

Journal of clinical neurology (Seoul, Korea) 20170101 1

<h4>Background and purpose</h4>Five single-nucleotide polymorphisms (SNPs) (rs4379368, rs10504861, rs10915437, rs12134493 and rs13208321) were recently identified in a Western population with migraine. These migraine-associated SNPs have not been evaluated in a Han Chinese population. This study investigated the associations of specific SNPs with migraine in a Han population.<h4>Methods</h4>This was a case-control study of Han Chinese residing in Fujian Province. Polymerase chain reaction-restri ...[more]

PMID: 28079315

Similar Datasets

Project description:BackgroundHypoxia inducible factor-1α (HIF-1α) is associated with the progression and metastasis of lung cancer. There are, however, few studies on the relationship between the single nucleotide polymorphisms of HIF-1α and susceptibility to lung cancer. Therefore, we aimed to investigate the relationship between indoor air pollution, HIF-1α rs2057482, and the susceptibility to primary lung cancer of the Fujian Han population.MethodsThe present study is a hospital-based case-control study. We recruited 1,096 lung cancer and 1,110 controls that were admitted to the Department of Thoracic Surgery of the First Affiliated Hospital and Union Hospital of Fujian Medical University and Fuzhou General Hospital of Nanjing Military Region from January 2006 to December 2012. The primary lung cancer cases were identified via pathological methods. Both case and control groups received questionnaires. Genotyping of HIF-1α gene rs2057482 locus polymorphism in all subjects were analyzed by MALDI-TOF-MS technique.ResultsIndividuals who carried the T-genotype of HIF-1α rs2057482 were more susceptible to small cell carcinoma (odds ratio of 1.725, 95%CI: 1.047-2.842). After adjusting for general and lung cancer-related factors, we found that in the co-dominant genetic model, rs2057482 TT carriers were 2.195 times more likely to develop lung cancer than CC carriers (95%CI: 1.038-4.463) in the population that were exposed to passive smoking. In the dominant genetic model, the risk of lung cancer was 1.911 times (95%CI: 1.121-3.258) that in the carriers of the rs2057482 T allele with a family history of cancer. In the recessive genetic model, rs2057482 TT carriers had a 0.159-fold increased risk of lung cancer (95%CI: 0.028-0.920) than TC+CC carriers in people with a history of lung disease. In the additive genetic model, the risk of lung cancer in rs2057482 TC+TT carriers was 1.542 times (95%CI: 1.107-2.340) that in the CC family of people with a family history of cancer.ConclusionsHIF-1α rs2057482 may be associated with lung cancer susceptibility. .

Project description:BackgroundGlutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). The estimated prevalence of GA1 and the mutational spectrum of the GCDH gene vary widely according to race and region. The aim of this study was to assess the acylcarnitine profiles and genetic characteristics of patients with GA1 in Fujian Province, southeastern China.ResultsFrom January 2014 to December 2022, a total of 1,151,069 newborns (631,016 males and 520,053 females) were screened using MS/MS in six newborn screening (NBS) centers in Fujian Province and recruited for this study. Through NBS, 18 newborns (13 females and 5 males) were diagnosed with GA1. Thus, the estimated incidence of GA1 was 1 in 63,948 newborns in Fujian province. In addition, 17 patients with GA1 were recruited after clinical diagnosis. All but one patient with GA1 had a remarkable increase in glutarylcarnitine (C5DC) concentrations. The results of urinary organic acid analyses in 33 patients showed that the concentration of glutaric acid (GA) increased in all patients. The levels of C5DC and GA in patients identified via NBS were higher than those in patients identified via clinical diagnosis (P < 0.05). A total of 71 variants of 70 alleles were detected in patients with GA1, with 19 different pathogenic variants identified. The three most prevalent variants represented 73.23% of the total and were c.1244-2 A > C, p.(?) (63.38%), c.1261G > A, p.Ala421Thr (5.63%), and c.406G > T, p.Gly136Cys (4.22%). The most abundant genotype observed was c.[1244-2 A > C]; [1244-2 A > C] (18/35, 52.43%) and its phenotype corresponded to high excretors (HE, GA > 100 mmol/mol Cr).ConclusionsIn conclusion, we investigated the biochemical and molecular features of 35 unrelated patients with GA1. C5DC concentrations in dried blood spots and urinary GA are effective indicators for a GA1 diagnosis. Our study also identified a GCDH variant spectrum in patients with GA1 from Fujian Province, southeastern China. Correlation analysis between genotypes and phenotypes provides preliminary and valuable information for genetic counseling and management.

Dataset Information

Migraine Susceptibility Genes in Han Chinese of Fujian Province.

Publications

Migraine Susceptibility Genes in Han Chinese of Fujian Province.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets