Association Between The Gene Polymorphisms Of FTO,MC4R And Cerebral Infarction In The Changsha Han Population

Objective:To explore the association between the polymorphisms of the obesity gene FTO(rs8050136, rs9939609), gene MC4R(rs17782313) and cerebral infarction and the influence of the interaction between the three loci and the intermediate phenotypes on CI in the Changsha Han population.Methods:Clinical characteristics of recruited individuals at baseline were registered and peripheral venous blood was collected from each individual, who were351patients with CI from the Department of Neurology, Third Xiangya Hospital, Central South University and417sex, age matched control subjects from health management center of the same hospital. Genotyping of the three loci was performed using a combination of PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Chi-square test was applied to analyze the difference of genotype and allele between case group and control group; the unpaired student’s t-test to analyze the association between the loci and weight, BMI, blood lipids, blood glucose and blood pressure; MDR to explore the contribution of interaction between loci and intermediate phenotypes to CI.Results:1.No differences was observed in genotype and allele frequencies of the loci between case and control(P>0.05).2.①In CI patients with normal BMI, rs8050136and rs9939609were associated with HDL-c (P=0.035,0.037, respectively), while rs17782313was associated with LDL-c (P=0.004).②In overweight control subjects, allele A of rs8050136was associated with higher level of weight(P=0.041). Allele A of rs8050136and allele A of rs9939609were associated with higher BMI (P=0.049,0.029, respectively).③In control subjects with normal BMI, rs8050136and rs9939609were both positively associated with BMI (P=0.030,0.039), while rs9939609was associated with FBS (P=0.029).3.The locus (rs8050136)-intermediate phenotype (hypertension and HDL-c level) interaction was significantly associated with increased risk of CI (OR=5.4559,95%CI=3.9805-7.4781, P<0.0001).Conclusions:1.Maybe none of the polymorphisms of genes FTO(rs8050136, rs9939609) or MC4R(rsl7782313) was associated with CI in the Changsha Han population.2.The loci may be associated with metabolic disorder(ranging from disturbance of blood lipids and blood glucose to abnormal BMI and weight).3.The locus (rs8050136)-intermediate phenotype (hypertension and HDL-c level) interaction may be significant contributor to CI.