Association Of The -2548G/A Polymorphism Of The Leptin Gene With Cholesterol Gallstones

Objective To study the relationship between the G-2548A functional polymorphism in the 5' promoter region of the LEP gene with plasma leptin level and gallstones.To study -2548G / A genetic polymorphism and analysis of allele and genotype distribution.To identify related genes and the related protection of genetic susceptibility.Methods To determine the G-2548A polymorphism of leptin gene by polymerase chain reaction - restriction fragment length polymorphism(PCR-RFLP) technology among the subjects.There were 118 gallstone(57 men,61 women) and 53 normal subjects(24 men,29 women).To study -2548G / A genetic polymorphism and analysis of allele and genotype distribution.To determine plasma leptin concentration with RIA,to determine plasma glucose,lipid,body height and body mass in 171 subjects.Results(1) The gallstones group body mass index(BMI),cholesterol(TC), triglyceride(TG),low density lipoprotein(LDL) were significantly higher than the control group,there is statistically significant difference(P＜0.05);High-density lipoprotein differences between the two sets of comparison was not statistically significant(t=-0.202,P＞0.05);Blood glucose level differences between the two sets of comparison was not statistically significant(t=-0.353,P＞0.05).(2) Effect of the use of genetic profiling model(AA plus AG:GG) for analysis by X~2 test and correlation analysis,G-2458A in the distribution of the two groups have statistically significant difference(X~2=4.251,P=0.039);The genotype frequency of AA,GA were93.2%,was higher than the nomal control(83%),(X~2=4.251,P=0.039);Genotype frequency relative risk analysis,AA genotype AG increases the risk of gallstone disease are 2.813 times the GG genotype(OR = 2.813;CI = 1.020～7.757);Allele frequency distribution in the two groups there are differences.The allele frequency of A(68.2%) was higher than the nomal control(54.7%),(X~2=5.791,P=0.016);A allele carriers of the risk of gallstone disease are carriers of G allele of 1.777 times.(X~2 = 5.791,P = 0.016,OR = 1.777;CI = 1.110～2.84.4).(3) Gallstones group had higher leptin level than the control group,without taking into account factors of gender and BMI same meaningful circumstances(t=254.297,P＜0.05 ).(4) The genotype of AA,GA all had higher leptin level than the genotype of GG,(F=10.072,P＜0.05).People carrying A allele had higher leptin level than the People carrying G allele,(t=3.496,P＜0.05). Conclusion(1)There is G-2548A functional polymorphism in the 5' promoter region of the LEP gene in people with gallstones.Gallstones patients with AA plus AG genotypes and A allele frequencies are higher than those in the control group.The G-2548A functional polymorphism in the 5' region of the LEP gene is associated with leptin level in gallstones people.(2)The G-2548A polymorphism in the 5' region of the LEP gene is significantly correlation with the gallstones.A allele of leptin may be a genetic factor that may contribute to individual susceptibility for gallstone.G allele of leptin may be a genetic factor that may protect people away from gallstone.(3)By detecting genotype,it is helpful to screen the gallstone-prone populations;It has important clinical value for prediction and prevention of the occurrence of cholesterol gallstone.