IL18 rs360717 and rs187238 genetic variants are associated with migraine diagnosis.

BACKGROUND: Migraine is a genetically determined disorder that predisposes to recurrent episodes of headache. Interleukin (IL)-18 is a pro-inflammatory cytokine that seems to play a role in migraine pathophysiology, and its genetic variants could potentially impact susceptibility to migraine. OBJECTIVE: To investigate the association between IL18 rs360717 and rs187238 genetic variants with migraine diagnosis and its clinical characteristics. METHODS: A case-control study was conducted with 152 people with migraine and 155 healthy controls, matched by sex, age, ethnicity, and body mass index. Clinical characteristics of migraine, as well as validated questionnaires regarding disability and impact of migraine, presence of allodynia, anxiety, depression, and hyperacusis were collected. Genotyping for IL18 rs360717 and rs187238 variants was performed using real-time polymerase chain reaction (qPCR) and TaqMan™ method. RESULTS: The IL18 rs360717A and rs187238G alleles were associated with increased chance of being diagnosed with migraine (OR = 1.53, 95%CI 1.05-2.24, p = 0.028 and OR = 1.46, 95%CI 1.00-2.14, p = 0.049, respectively). In the dominant model, the rs360717GA + AA genotypes were also associated with a higher chance of migraine than the GG genotype (OR = 1.69, 95%CI 1.05-2.73, p = 0.030). In women, in addition to the previous associations, there was also an effect of the variants on the chance of migraine in the codominant models and dominant models. Furthermore, among women, there was an influence on the prevalence of postdrome perception with rs360717GA + AA (OR = 3.04, 95%CI 1.10-8.42, p = 0.032) and rs187238CG + GG (OR = 2.97, 95%CI 1.08-8.21, p = 0.035). CONCLUSION: IL18 rs360717 and rs187238 variants were associated with migraine diagnosis and postdrome symptoms, especially in women. SIGNIFICANCE: This study has demonstrated that IL18 rs360717 and rs187238 variants play a role in migraine, influencing the chance of being diagnosed with migraine, particularly among women. There are prospects that IL18 variants could be considered potential genetic biomarkers for migraine.

CTLA4 genetic variants associated with urothelial bladder cancer susceptibility.

PURPOSE: The study evaluated the relationship between the CTLA4 rs231775 (+49A>G) and rs231779 (+1822C>T) variants and susceptibility, stage, prognosis and response to treatment of the urothelial bladder cancer (UBC). METHODS: A total of 140 patients with UBC and 145 controls were enrolled. The patients were stratified as non-muscle invasive bladder cancer (NMIBC) and muscle invasive bladder cancer (MICB), metastasis, recurrence, low/moderate/high/very high risk. Demographic, anthropometric, epidemiological, and clinical data were obtained from all individuals using a structured questionnaire. The CTLA4 variants were determined using real-time polymerase chain reaction (qPCR) and the genotypes were tested in the allelic, codominant, dominant, recessive, and overdominant genetic models. RESULTS: The UBC patients were older and mostly smokers (P < 0.001), with greater waist circumference, systolic, and diastolic arterial pressure (P = 0.005, P = 0.006, and P < 0.001, respectively) than controls. A protective effect for the UBC was observed among the patients carrying the heterozygote genotypes of the CTLA4 rs231775 [odds ratio (OR = 0.40; 95% confidence interval (CI): 0.160.98, P = 0.045) and rs231779 (OR = 0.35; 95% CI: 0.14-0.87, P = 0.024). R2 Nagelkerke analysis demonstrated that a model with age and smoking added to the CTLA4 rs231775 SNVs explained 77.0% of the susceptibility to UBC and a model with age and smoking added to the CLTA4 rs231779 explained 77.2% of the susceptibility to UBC. CONCLUSION: The CTLA4 rs231775 AG and rs231779 CT heterozygous genotypes in the overdominant model together with age and smoking may be useful as potential biomarkers for the UBC susceptibility.