title: Strong association of the polymorphisms in PBEF1 and knee OA risk: a two-stage population-based study in China.
abstract: The association of Pre-B cell colony enhancing factor 1 (PBEF1) with obesity, together with its pro-inflammatory properties suggests that PBEF1 might be another crucial mediator that links inflammation with obesity and primary osteoarthritis (OA). We hypothesized that polymorphisms in PBEF1 may modify the risk of developing OA. Thus we systematically screened 4 tagging polymorphisms (rs4730153, rs2058540, rs3801267 and rs16872158) in PBEF1 and evaluated the association between the genetic variants and OA risk in a two-stage case-control study including 196 cases and 442 controls in the first stage and 143 cases and 238 controls in the second stage. In the first stage, two SNPs (rs4730153 and rs16872158) were found to be potentially associated with OA risk (P < 0.05), which were further confirmed in the second stage with similar effects. After combining the two stages, we found that rs4730153 was significantly associated with decreased risk of OA in an additive genetic model (P < 0.05), while rs16872158 showed increased risk of developing OA (P < 0.05). Combined analysis of these 2 SNPs showed a significant allele-dosage association between the number of risk alleles and OA risk (Ptrend = 5.25 × 10(-5)). These findings indicate that genetic variants in PBEF1 gene may modify individual susceptibility to OA in the Chinese population.
authors.affiliation: Department of Epidemiology, School of Public Health, Nantong University, Nantong, Jiangsu Province, P. R. China.
authors.forename: Minjie
authors.initials: M
authors.lastname: Chu
authors.affiliation: Second Department of orthopedic Surgery, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, P. R. China.
authors.forename: Jiesheng
authors.initials: J
authors.lastname: Rong
authors.affiliation: Department of Epidemiology, School of Public Health, Nantong University, Nantong, Jiangsu Province, P. R. China.
authors.forename: Yidan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, P. R. China.
authors.forename: Lin
authors.initials: L
authors.lastname: Zhu
authors.affiliation: Hongqi Community Health Service Center, Xiangfang District, Harbin, Heilongjiang Province, P. R. China.
authors.forename: Baifen
authors.initials: B
authors.lastname: Xing
authors.affiliation: Department of Health Education, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, P. R. China.
authors.forename: Yuchun
authors.initials: Y
authors.lastname: Tao
authors.affiliation: Department of Epidemiology, School of Public Health, Nantong University, Nantong, Jiangsu Province, P. R. China.
authors.forename: Xun
authors.initials: X
authors.lastname: Zhuang
authors.affiliation: Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, P. R. China.
authors.forename: Yashuang
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Epidemiology, School of Public Health, Nantong University, Nantong, Jiangsu Province, P. R. China.|Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, P. R. China.
authors.forename: Liying
authors.initials: L
authors.lastname: Jiang
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D016207:Cytokines / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D054409:Nicotinamide Phosphoribosyltransferase / Q000235:genetics*; D020370:Osteoarthritis, Knee / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
chemical_list: D016207:Cytokines; D054409:Nicotinamide Phosphoribosyltransferase; C085455:nicotinamide phosphoribosyltransferase, human