The Relation Between Leptin Receptor Gene Gln223Arg Polymorphism And Obstructive Sleep Apnea-hypopnea Syndrome

Objective: Gln223Arg of leptin receptor gene polymorphism and obstructive sleep apnea-hypopnea syndrome (obstructive sleep apnea syndrome, OSAHS) the relevance, aimed at finding related to the occurrence of the genotype with OSAHS, and to study the leptin receptor gene OSAHS different genotypes and the overall fat, severity, and hypertension..Methods: Select unrelated patients with OSAHS and non-OSAHS controls all 60 cases, all the selected rows caught polysomnography (polysomnography, PSG).All of the subjects in the monitoring of tobacco and alcohol the week before, and in monitoring the day before the cut-off clothing and other antihypertensive drugs and stability of sedatives. PSG monitoring of brain electrical activity mainly includes (EEG: C3-A2, C4-A1), jaw muscles and the tibialis anterior muscle EMG activity (EMG), bilateral eye electrical activity (EOG), and electrocardiogram (ECG), I nasal airflow, chest and abdominal movement, oxygen saturation, snoring. OSAHS diagnostic criteria based on the Chinese Medical Association under the Chinese Medical Association meeting in Hangzhou Branch of otorhinolaryngology diagnosis of OSAHS and efficacy assessment standards based on. OSAHS diagnosis and the main basis for determining the severity of sleep respiratory events index (apneaand hyponea index, AHI). AHI is the average hourly number of sleep apnea events, AHI <5 times / h for the normal, 5 ~ 15 times / h for the mild OSAHS, 16 ~ 30 times / h for the moderate OSAHS,> 30 times / h was severe OSAHS. Body Mass Index (Body Mass Index, BMI), is a more accurate reflection of body mass indicator. Currently used BMI> 25 as overweight, BMI> 30 as obesity.According to AHI, 60 OSAS patients were classified as mild 19, moderate 9, severe 32. OSAHS group of male and 38 female 22, aged 25-62 years (mean 46.08±1.20 years), BMI (28.94±0.47); the non-OSAHS group were male and 45 female and 15 ,35-59 years (mean 44.05±0.99 years), BMI (23.98±0.34). All selected persons in the morning wake up within 5 minutes the vacuum collected fasting blood 3ml, for serum cholesterol (Chol), triglyceride (TG), low-density lipoprotein (LDL-C), high density lipoprotein (HDL-C) determination. Simultaneous Determination of systolic blood pressure after waking (SBp), wake up after the diastolic pressure (DBp), and height, weight, blood pressure is defined as systolic pressure≥140mmHg (1mmHg = 0.133kPa) and / or diastolic blood pressure≥90mmHg. OSHAS group, 23 of which were accompanied by high blood pressure. Application of phenol - chloroform method to extract genomic DNA, then polymerase chain reaction (PCR method) amplified DNA fragments with restriction enzymes Msp? digestion, electrophoresis Gln223Arg leptin receptor gene polymorphism and Sequencing to determine the genotype of leptin receptor gene Gln223Arg to detect genetic polymorphism, and can more accurately reflect the leptin receptor gene exon 6 other sites have mutations. Data are mean±standard error that the count data was used to compare between the two groups chi-square test, t test was used to compare measurement data.Results:31 cases of non-OSAHS and non-obese (BMI> 25kg/m2) who, GG and GA genotype frequencies were 0.84 and 0.16; G and A allele frequencies were 0.89 and 0.11, genotype frequencies in Hardy-Weinberg balance.OSAHS group Gln223Arg leptin receptor gene polymorphism in GG, GA, AA genotype frequencies were expressed 0.850,0.100,0.050, G allele frequency of 0.900, A allele frequency of 0.100; non-OSAHS group GG, GA, AA-type distribution of frequencies were 0.833,0.150,0.017, G allele frequency of 0.908, A allele frequency of 0.092. Genotype frequency difference between the two groups was not statistically significant (P = 0.803,> 0.05).The non-OSAHS group and OSAHS light, medium and heavy compared among the three groups, BMI was statistically significant (P = 0.000, <0.05), and with the BMI gradually increase, AHI, LSO2, PSO2 showing a steadily increasing trend.OSAHS patients with serum markers of cholesterol, triglycerides, low-density lipoprotein, high-density lipoprotein and PSG testing parameters: sleep apnea-hypopnea index (AHI), mean oxygen (PSO2), the lowest oxygen (LSO2), wake up after blood pressure (BP) and Gln223Arg all there is no correlation between genotypes (P>0.05).MspI restriction enzyme digestion and sequencing results were consistent with, and in OSAHS group and non-OSAHS group sequencing results of the two groups did not find LEPR gene exon 6 mutation of other sitesConclusion: This study found that patients with OSAHS gradually as BMI values increase, the severity of sleep apnea and its related indicators (AHI, LSO2, PSO2) also show a gradual increasing trend. The Gln223Arg genotype with OSAHS group BMI, serum cholesterol (Chol), triglyceride (TG), low-density lipoprotein (LDL-C), high density lipoprotein (HDL-C), as well as PSG parameters is not related to nature Gln223Arg leptin receptor gene polymorphisms may be related to the pathogenesis of OSAHS was no correlation.