title: Association of the leptin gene with knee osteoarthritis susceptibility in a Han Chinese population: a case-control study.
abstract: Previous studies have suggested that leptin works as a key regulator in the pathogenesis of osteoarthritis (OA), and genetic factors modulate OA. This study assessed the contribution of leptin gene (LEP) polymorphism(s) to knee OA among Han Chinese. Three tag single-nucleotide polymorphisms (SNPs) covering all those LEP SNPs of which the minor allele frequencies were over 10% were selected. Study subjects (697 patients and 699 controls) were divided into four groups (underweight, normal weight, overweight and obese) by body mass index (BMI). Allele and genotype frequencies in the three tag SNPs were significantly different in the normal weight and overweight groups. In the normal weight, overweight and obese groups, BMI (P=4.3 × 10(-5), 0.012 and 0.009, respectively) and gender (P=3.5 × 10(-22), 5.1 × 10(-23) and 2.1 × 10(-8), respectively) were effective factors. Age was an independent effective factor in the overweight group (P=0.009). Haplotypes were associated with OA in the normal weight group (CAT, P=0.015) and the overweight group (AGC, P=0.015). Our results suggest an association between LEP and knee OA in the normal weight and overweight groups among Han Chinese.
authors.affiliation: The Center of Diagnosis and Treatment for Joint Disease, Department of Orthopaedic Surgery, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, Jiangsu, China.
authors.forename: Jianghui
authors.initials: J
authors.lastname: Qin
authors.forename: Dongquan
authors.initials: D
authors.lastname: Shi
authors.forename: Jin
authors.initials: J
authors.lastname: Dai
authors.forename: Lunqing
authors.initials: L
authors.lastname: Zhu
authors.forename: Aspasia
authors.initials: A
authors.lastname: Tsezou
authors.forename: Qing
authors.initials: Q
authors.lastname: Jiang
mesh_terms: D044466:Asian People / Q000235:genetics*; D001835:Body Weight / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005006:Ethnicity; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D020738:Leptin / Q000235:genetics*; D008297:Male; D009765:Obesity / Q000235:genetics; D020370:Osteoarthritis, Knee / Q000208:ethnology / Q000235:genetics*; D050177:Overweight / Q000235:genetics; D011110:Polymorphism, Genetic
chemical_list: D020738:Leptin