title: Association of leptin receptor Lys109Arg and Gln223Arg polymorphisms with increased risk of clear cell renal cell carcinoma.
abstract: BACKGROUND
  Although roles of genetic polymorphisms of leptin receptor (LEPR) gene in several cancers have been documented, the association between polymorphisms of LEPR and clear cell renal cell carcinoma (CC-RCC) remains unknown. The aim of this study was to explore any relation.
  
  
  METHODS
  The study population consisted of 77 patients with CC-RCC and 161 healthy control subjects. Polymorphism analyses of Lys109Arg and Gln223Arg were performed by direct DNA sequencing and PCR-restriction fragment length polymorphism approaches respectively.
  
  
  RESULTS
  Comparisons of allelic and genotypic frequencies in Lys109Arg and Gln223Arg showed no significant difference between the cases and controls. However, when evaluating the combined genotype of Lys109Arg and Gln223Arg, risk with GG/GG was increased (OR=1.85, 95%CI=1.04-3.30) and with GA/GG or GG/GA was decreased (OR=0.07, 95%CI=0.01-0.54; OR and 95%CI of the latter could not be calculated for a value of zero) . Furthermore, the G-G haplotype frequency of Lys109Arg and Gln223Arg in the cases was higher (OR=1.68; 95%CI=1.02-2.76). In contrast, the A-G and G-A haplotype frequencies in the cases were lower than those in the controls (OR=0.06; 95%CI=0.01 to 0.47; OR and 95%CI of the latter could not be calculated for a value of zero). In addition, the Lys109Arg A allele was in LD with the Gln223Arg A allele (d'=0.9399) in the CC-RCC subjects, but not in the controls.
  
  
  CONCLUSIONS
  Our data suggest that the GG/GG combined genotype and G-G haplotype of Lys109Arg and Gln223Arg can act as evaluating factors for CC-RCC risk.
authors.affiliation: Department of Clinical Laboratory Science, Wuxi People's Hospital of Nanjing Medical University, Wuxi, Jiangsu Province, China E-mail : wxmuhj@gmail.com.
authors.forename: Hui-Jun
authors.initials: HJ
authors.lastname: Mu
authors.forename: Jian
authors.initials: J
authors.lastname: Zou
authors.forename: Ping
authors.initials: P
authors.lastname: Xie
authors.forename: Zhuo-Qun
authors.initials: ZQ
authors.lastname: Xu
authors.forename: Jun
authors.initials: J
authors.lastname: Ruan
authors.forename: Shu-Dong
authors.initials: SD
authors.lastname: Yang
authors.forename: Ying
authors.initials: Y
authors.lastname: Yin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D054411:Receptors, Leptin / Q000235:genetics*; D012306:Risk; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: C515448:LEPR protein, human; D054411:Receptors, Leptin