title: Synergistic effect of LEP and LEPR gene polymorphism on body mass index in a Chinese population.
abstract: Both leptin (LEP) and leptin receptor (LEPR) are important in the regulation of body weight. In this study, we evaluated the individual and combined effects of a polymorphic microsatellite marker in the LEP gene 3' flanking region and two polymorphisms (Lys109Arg and Lys656Asn) of the LEPR gene on metabolic markers for obesity in a Chinese population. The genotypes of polymorphisms in LEP and LEPR gene were determined by PCR and SSCP assay in 230 simple obese subjects and 202 control subjects of Chinese population. Logistic regression analysis showed that polymorphism in LEP gene 3' flanking region was associated with waist/hip ratio (WHR) (P = 0.042). Individually, Lys109Arg variant in LEPR gene was associated with systolic blood pressure (P = 0.031) in males, and Lys656Asn variant was associated with serum triglyceride level (P = 0.026). Interestingly, only subjects that simultaneously exhibit all three polymorphisms showed a significantly elevated BMI (29.30 ± 0.85 vs 26.91 ± 1.19, P = 0.037). Taken together, our data suggest that a combination of polymorphism in the LEP gene 3' flanking region, and Lys109Arg, Lys656Asn variants in LEPR gene is associated with obesity in Chinese Han population.
authors.affiliation: Department of Endocrinology, Changhai Hospital, Shanghai, China. Electronic address:lujin12@gmail.com.
authors.forename: Jin
authors.initials: J
authors.lastname: Lu
authors.forename: Dajin
authors.initials: D
authors.lastname: Zou
authors.forename: Longyi
authors.initials: L
authors.lastname: Zheng
authors.forename: Guangchun
authors.initials: G
authors.lastname: Chen
authors.forename: Jian
authors.initials: J
authors.lastname: Lu
authors.forename: Zhengkang
authors.initials: Z
authors.lastname: Feng
mesh_terms: D000328:Adult; D000483:Alleles; D001120:Arginine; D044466:Asian People / Q000235:genetics*; D001216:Asparagine; D015992:Body Mass Index; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020738:Leptin / Q000235:genetics* / Q000378:metabolism; D016015:Logistic Models; D008239:Lysine; D008297:Male; D009765:Obesity / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D015995:Prevalence; D054411:Receptors, Leptin / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D049629:Waist-Hip Ratio
chemical_list: C515448:LEPR protein, human; D020738:Leptin; D054411:Receptors, Leptin; D001216:Asparagine; D001120:Arginine; D008239:Lysine