title: Association of leptin and leptin receptor gene polymorphisms with systemic lupus erythematosus in a Chinese population.
abstract: To explore the association of LEP and leptin receptor (LEPR) gene single-nucleotide polymorphisms (SNPs) with susceptibility to systemic lupus erythematosus (SLE) in a Chinese population. Four LEP SNPs (rs11761556, rs12706832, rs2071045 and rs2167270) and nine LEPR SNPs (rs10749754, rs1137100, rs1137101, rs13306519, rs8179183, rs1805096, rs3790434, rs3806318 and rs7518632) were genotyped in a cohort of 633 patients with SLE and 559 healthy controls. Genotyping of SNPs was performed with improved multiple ligase detection reaction (iMLDR). No significant differences were detected for the distribution of allele and genotype frequencies of all 13 SNPs between patients with SLE and controls. The genotype effects of recessive, dominant and additive models were also analysed, but no significant evidence for association was detected. However, further analysis in patients with SLE showed that the TT genotype and T allele frequencies of the LEP rs2071045 polymorphism were nominally significantly higher in patients with pericarditis (P = 0.012, P = 0.011, respectively). In LEPR, the GA/AA genotype and A allele frequencies of the rs1137100 polymorphism were both nominally associated with photosensitivity in patients with SLE (P = 0.043, P = 0.018, respectively). Moreover, the genotype and allele distribution of rs3806318 were also nominally associated with photosensitivity in patients with SLE (P = 0.013, P = 0.008, respectively). No significant differences in serum leptin levels were observed in patients with SLE with different genotypes. In summary, LEP and LEPR SNPs are not associated with genetic susceptibility to SLE, but may contribute to some specific clinical phenotype of this disease; further studies are necessary to elucidate the exact role of LEP and LEPR genes in the pathogenesis of SLE.
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|The Key Laboratory of Major Autoimmune Diseases, Anhui Province, Hefei, Anhui, China.
authors.forename: Hong-Miao
authors.initials: HM
authors.lastname: Li
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|The Key Laboratory of Major Autoimmune Diseases, Anhui Province, Hefei, Anhui, China.
authors.forename: Tian-Ping
authors.initials: TP
authors.lastname: Zhang
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|The Key Laboratory of Major Autoimmune Diseases, Anhui Province, Hefei, Anhui, China.
authors.forename: Rui-Xue
authors.initials: RX
authors.lastname: Leng
authors.affiliation: Department of Rheumatology, Anhui Provincial Hospital, Hefei, Anhui, China.
authors.forename: Xiang-Pei
authors.initials: XP
authors.lastname: Li
authors.affiliation: Department of Nephrology, The Second Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
authors.forename: De-Guang
authors.initials: DG
authors.lastname: Wang
authors.affiliation: Department of Rheumatology, Anhui Provincial Hospital, Hefei, Anhui, China.
authors.forename: Xiao-Mei
authors.initials: XM
authors.lastname: Li
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|The Key Laboratory of Major Autoimmune Diseases, Anhui Province, Hefei, Anhui, China.
authors.forename: Dong-Qing
authors.initials: DQ
authors.lastname: Ye
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|The Key Laboratory of Major Autoimmune Diseases, Anhui Province, Hefei, Anhui, China.
authors.forename: Hai-Feng
authors.initials: HF
authors.lastname: Pan
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D003710:Demography; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D020738:Leptin / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054411:Receptors, Leptin / Q000235:genetics*; D012307:Risk Factors
chemical_list: D020738:Leptin; D054411:Receptors, Leptin
keywords: leptin; single-nucleotide polymorphisms; systemic lupus erythematosus