title: Effect of LEPR Gln223Arg polymorphism on breast cancer risk in different ethnic populations: a meta-analysis.
abstract: Leptin and leptin receptor have been implicated in processes leading to breast cancer initiation and progression. An A to G transition mutation in codon 223, in exon 6 of the leptin receptor gene (LEPR) can result in glutamine to arginine substitution (Gln223Arg). A variety of case-control studies have been published evaluating the association between LEPR Gln223Arg polymorphism and breast cancer. However, published studies have yielded contradictory conclusions. This meta-analysis enrolled eight studies to estimate the overall risk of LEPR Gln223Arg polymorphism associated with breast cancer. The pooled ORs were performed for codominant model (Arg/Arg versus Gln/Gln; Arg/Gln versus Gln/Gln), dominant model (Arg/Arg + Arg/Gln versus Gln/Gln), recessive model (Arg/Arg versus Arg/Gln + Gln/Gln). Overall significantly elevated breast cancer risk was found for recessive model (OR 1.32, 95% CI 1.03-1.69) and for genotype Arg/Gln versus Gln/Gln (OR 1.16, 95% CI 1.01-1.34). In the stratified analysis by ethnicity, significantly increased risks were also found among Africans for genotype Arg/Arg versus Gln/Gln: OR 1.86, 95% CI 1.28-2.71, Arg/Gln versus Gln/Gln: OR 1.48, 95% CI 1.10-1.99, dominant model: OR 1.60, 95% CI 1.21-2.11 and recessive model: OR 1.48, 95% CI 1.07-2.05; for Asians, Arg/Arg versus Gln/Gln: OR 6.79, 95% CI 3.42-13.47 and dominant model: OR 2.03, 95% CI 1.42-2.90. However, no significantly increased risk was found among Europeans for all genetic models. In conclusion, the LEPR 223Arg is a low-penetrant risk for developing breast cancer, especially for black African women.
authors.affiliation: The Central Laboratory of Nanjing First Hospital Affiliated to Nanjing Medical University, Nanjing, 210006 Jiangsu, China.
authors.forename: Bang-shun
authors.initials: BS
authors.lastname: He
authors.forename: Yu-qin
authors.initials: YQ
authors.lastname: Pan
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: Ye-qiong
authors.initials: YQ
authors.lastname: Xu
authors.forename: Shu-kui
authors.initials: SK
authors.lastname: Wang
mesh_terms: D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008957:Models, Genetic; D020125:Mutation, Missense / Q000235:genetics; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D044469:Racial Groups / Q000235:genetics*; D054411:Receptors, Leptin / Q000235:genetics*; D012307:Risk Factors
chemical_list: C515448:LEPR protein, human; D054411:Receptors, Leptin