| In recent years, the incidence of obesity has been increased significantly, and obesity has become an important global public health problem and causes premature death and disability which affecting the quality of life and increasing the financial burden on all counturies in the word. The etiological factors of obesity are multiple, and genetic factor plays an important role in morbidity of obesity. In human, PLIN gene is located in chromosoma 15q26.1. The single PLIN gene gives rise to all four perilipin proteins, perilipin A, B, C and D. Perilipin A is the most abundant isoform and is expressed specifically in adipocytes and steroidogenic cells. In the basic state, unphosphorylated perilipinA coats the surface of intracellular lipid droplets to form a barrier to protect triacylglycerol avoid hydrolysis of HSL. In the stimulate state, upon activation of protein kinase A (PKA), phosphorylated perilipinA facilites phosphorylated HSL translocated to the surface of intracellular lipid droplets, promoteing triacylglycerol hydrolysis. PLIN -I- mice consume more food than control mice, but much leaner and with more muscular than controls. Breeding the PLIN -/-alleles into Leprdb/db mice reverses the obesity of Leprdb/db mice. They are also resistant to diet-induced obesity. Therefore, the association between PLIN gene and obesity is closely related.Obesity is the first reason of metabolic syndrome. Although the diagnostic criteria of metabolic syndrome are not identical in the word, but all the metabolic syndrome related measurements such as obesity related index, glucose, blood fat, and blood pressure are included. To identify the effect of PLIN gene in human, the associations between PLIN SNPs and metabolic syndrome related measurements were examined in different populations in the world. There are over ten SNPs which have been examined, but the same SNP draws a different conclusion in different population. For example, PLIN 11482G>A variant alleles were significantly associated with lower body mass index and a lower obesity risk in Spanish women, but in American white people, there was no association between PLIN 11482G>A variant alleles and obesity risk. PLIN11482A carriers were resistant to weight loss based on low-energy diets. But in type 2 diabetes patients in Korea, patients with the 11482A/A genotype show less increase in body weight than those with other genotypes. Therefore, it is necessary to continue the examination of association between PLIN SNPs and metabolic syndrome related measurements in different countries and different populations. The purpose of this study is to get the distribution of PLIN1243(C/T) SNP genetype and to examine the associations between PLIN1243(C/T) SNP and metabolic syndrome related measurements in the Chinese Han population of Henan province.Materials and methodsA total of 970 Han individuals aged 18-85 years old were recruited by cluster sampling method from two rural communities in Henan province. Data of demographic characteristics, behavior risk factors and dietary information were collected by standard questionnaire interview. Anthropometric measurements including height, weight, waist circumference, hip circumference, and blood pressure were taken in all participants. Fasting glucose and blood fat including total cholesterol, triglycerides, low density lipoprotein cholesterol, high density lipoprotein cholesterol, apoprotein A1, and apoprotein B were examined using full automaticity biochemistry analyzer. Genotypes were identified by PCR-RFLP technique. The consistency of genotype frequencies at PLIN\243(C/T) SNP with Hardy-Weinberg equilibrium was tested on line. Analysis of covariance was applied to compare means of obesity measurement index, fasting glucose, blood fat measurement, blood pressure adjusted for age, smoking, drinking, physical activity, dietary, and income. Logistic regression analysis was used to examine the association between different genotypes and obesity, hypertension, diabetes, and hyperlipoidemia adjusted for age, gender, smoking, drinking, physical activity, dietary, and income.Results1. Allele frequencies of PLIN1243(C/T) and the distribution of different genotypesIn our study, allele frequencies of PLIN1243C and PLIN1243T were 0.671 and 0.329, respectively. The genotype frequencies of C/C, C/T and T/T were 44.23%, 45.67 and 10.1% respectively. Genotype frequencies at PLIN1243(C/T) did not deviate from Hardy-Weinberg equilibrium.2. Association between PLIN1243 (C/T) genotypes and metabolic syndrome related measurementsIn the total study population, individuals with C/C genotype had higher BMI, waist circumference, and lower HDL-C levels.The mean value of BMI in genotypes C/C, C/T, and T/T were 24.87kg/m~2,24.49kg/m~2 and 23.69kg/m~2 (P=0.0113) respectively. The differences of BMI between C/C and T/T individuals were significant (P=0.0035). The differences of BMI between C/T and T/T individuals were significant (P=0.0456). Compared to the participants of the other two genotypes, individuals with T/T genotype had lower BMI level.The mean value of waist circumference in genotypes C/C, C/T, and T/T were 84.95cm, 83.72cm, 81.77cm (P=0.0294), respectively. The differences of waist circumference between C/C and T/T individuals were significant (P=0.0117). C/C individuals had higher waist circumference level than T/T individuals.The mean value of HDL-C in genotypes C/C, C/T, and T/T were 1.42mmol/L, 1.48mmol/L, 1.50mmol/L (P=0.0106), respectively. The differences of HDL-C between C/C and C/T individuals were significant (P=0.0074). The differences of HDL-C between C/C and T/T individuals were significant (P=0.0313). Compared to the participants of the other two genotypes, individuals with C/C genotype had lower HDL-C level.In women, the mean value of HDL-C in genotypes C/C, C/T, and T/T were 1.23mmol/L, 1.28mmol/L, 1.32mmol/L (P=0.0414), respectively. The differences of HDL-C between C/C and C/T individuals were significant (P=0.0488), C/C individuals had lower HDL-C level than C/T individuals. The differences of HDL-C between C/C individuals and T/T individuals were significant (P=0.0343). C/C individuals had lower HDL-C level than T/T individuals.Compared with C/C genotype, odds rations (ORs) and its 95% confidence intervals (95%CI) of C/T genotype for overall obesity, abdominal obesity, hypertension, diabetes, hypercholesteremia, hypertriglyceridemia, high low-density lipoproteinemia, and low high-density lipoproteinemia were 0.83(0.57-1.20), 0.90(0.68-1.19), 0.98(0.69-1.38), 0.64(0.41-0.99), 1.10(0.79-1.53), 0.77(0.57-1.04), 0.86(0.6-1.23), and 0.45(0.2-1.04), respectively, adjusted for age, gender, smoking, alcohol drinking, physical activity, dietary, and income.Compared with C/C genotype, ORs and its 95%CIs of T/T genotype for overall obesity, abdominal obesity, hypertension, diabetes, hypercholesteremia, hypertriglyceridemia, high low-density lipoproteinemia were 0.92(0.49-1.67),0.57(0.35-0.91),1.19(0.69-2.04),0.51(0.23-1.13),0.9(0.16-1.58),0.75(0.45-1.24),0.70(0.43-1.43) respectively, adjusted for age, gender, smoking, alcohol drinking, physical activity, dietary, and income.Conclusions1. The major genotype of PLIN 1243 (C/T) in the study population is C/T followed by the genetypes C/C and C/T. Allele frequencies of PLIN1243C and PLIN1243T are 0.671 and 0.329, respectively.2. Individuals with C/C genotype have higher BMI, waist circumference and lower HDL-C levels.3. Individuals with T/T genotype have lower risk for developing abdominal obesity compared to those with C/C genotype. Individuals with C/T genotype have lower risk for developing diabetes compared to those with C/C genotype. |