Report of IRF2BP1 as a novel partner of RARA in variant acute promyelocytic leukemia.

IRF2BP1 breaked in the middle of exon 1 at the c.322 position and fused with RARA intron 2 which is located at 3717 bp upstream of its exon 3. The fusion produced a new intron by forming a paired splicing donor GT at 9 bp downstream of RARA breakpoint and acceptor AG at the 5' end of RARA exon 3. The IRF2BP1::RARA fusion gene leads a fusion transcript involving IRF2BP1 exon 1 and RARA exon 3, linked by a 9-bp fragment derived from RARA intron 2. The patient with IRF2BP1::RARA has same clinical features of APL.

α-Cleavage of 2,2-Diazido-2,3-dihydroinden-1-one in Solution and Cryogenic Matrices.

The Norrish type I (α-cleavage) reaction is an excellent photochemical method for radical-pair formation in solution. However, in cryogenic matrices, the starting material typically re-forms before the radical pair diffuses apart. This study focused on N2 extrusion from an azido alkyl radical to prevent radical-pair recombination. Irradiation of 2,2-diazido-2,3-dihydroinden-1-one (1) in methanol mainly yielded methyl 2-cyanomethylbenzoate (2) and 2-cyanomethylbenzoic acid (3) via α-cleavage. Laser flash photolysis of 1 in argon-saturated acetonitrile resulted in α-cleavage to form triplet biradical 31Br1 (λmax ∼ 410 nm, τ ∼ 400 ns). In contrast, upon irradiation in glassy 2-methyltetrahydrofuran matrices, triplet alkylnitrene 31N was directly detected using electron spin resonance (D/hc = 1.5646 cm-1, E/hc = 0.00161 cm-1) and absorption spectroscopy (λmax = 276 and 341 nm). Irradiation of 1 in argon matrices generated 31N, benzoyl azide 4, singlet benzoylnitrene 14N, and isocyanide 5, as revealed by IR spectroscopy. The experimental results supported by density functional theory calculations [B3PW91/6-311++G(d,p)] suggest that irradiation of 1 in matrices results in α-cleavage to form biradical 31Br1, which extrudes N2 to yield 31Br2. Rearrangement of 31Br2 into 31N competes with cleavage of a N3 radical to form radical 1Ra3. The N3/1Ra3 radical pair combines to form 4, which upon irradiation yields 14N and 5.

Vitamin D supplementation and lower respiratory tract infection in infants: a nested case-control study.

PURPOSE: To assess the association between vitamin D (VD) supplementation and the risk of lower respiratory tract infection (LRTI) among infants. METHODS: This is a nested case-control study from an ongoing prospective birth cohort in Wuhan from 2013. Cases were subjects free of neonatal pneumonia but later developed LRTI during infancy, who were matched with five randomly selected controls by infant sex, birth year, and birth season. We included 190 cases and 950 controls in the final analysis. The primary outcome was the first LRTI incident and the exposure was VD supplementation from birth to the index endpoint. The association between VD supplementation and LRTI risk was assessed using the Cox proportional-hazards regression model. RESULTS: Infants taking supplements had a 59% relative reduction in the hazard ratio of LRTI (HR = 0.41; 95% CI 0.26, 0.64) compared to those not supplemented. There was a linear relationship between LRTI risk and VD supplementation within range of 0-603 IU/day: for each 100 IU per day increment in VD supplementation, infants experienced a 21% lower risk of developing LRTI (adjusted HR: 0.79; 95% CI 0.71, 0.89). The linear relationship was stably observed in the sensitivity analyses as well. CONCLUSIONS: VD supplementation was associated with the reduced risk of LRTI throughout infancy, and the optimal supplementation dose for infants may be beyond the current recommendation.

Converting Non-strained γ-Valerolactone and Derivatives into Sustainable Polythioesters via Isomerization-driven Cationic Ring-Opening Polymerization of Thionolactone Intermediate.

This contribution reports the efficient conversion of γ-valerolactone and its derivatives, abundant but unexplored renewable feedstocks, into sustainable and degradable polythioesters via the establishment of the first isomerization-driven ring-opening polymerizations (IROPs) of corresponding thionolactone intermediates. The key to this success relies on the development of a new simple and robust [Et3 O]+ [B(C6 F5 )4 ]- cationic initiator which possesses high activity, exclusive selectivity, living nature, and broad scope of thionolactones. A complete inversion of configuration during IROP of enantiopure γ-thionovalerolactone is also disclosed, affording isotactic semicrystalline polythioesters (Tm =87.0 °C) with mechanical property compared well to the representative commodity polyolefins. The formation of a highly crystalline supramolecular stereocomplex with enhanced thermal property (Tm =117.6 °C) has also been revealed.

Dickkopf-1 as a promising therapeutic target for autoimmune diseases.

Dickkopf-1 (DKK-1) is mostly known as a mature inhibitor of classic Wnt signaling pathways, which plays a critically role in regulating bone formation and bone metastasis. In recent years, the roles of DKK-1 played in bone resorption, bone formation, immune homeostasis and inflammation have been investigated. The role of DKK-1 in the pathogenesis and treatment of autoimmune diseases (ADs), including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), etc, has attracted widespread attention. Various studies have found that DKK-1 may be used as a biomarker for the occurrence and development of ADs, and as a potential target for the treatment of ADs. In this review, we have briefly summed up the intricate immunological functions and regulatory mechanisms of DKK-1 in ADs, aiming to further learning more about the role of DKK-1 involved in the pathogenesis of ADs and provide an outlook for the potential future researches.

Association of leptin and leptin receptor genes variants and pulmonary tuberculosis susceptibility, clinical manifestations in a Chinese population.

BACKGROUND: The aim of our study was to investigate the association of leptin (LEP) gene (rs11761556, rs12706832, rs2167270), leptin receptor (LEPR) gene (rs1137100, rs1137101, rs1805096) variants and pulmonary tuberculosis (PTB) susceptibility, as well as their several clinical manifestations, in a Chinese population. METHODS: This study included a cohort of 489 PTB patients and 489 healthy controls, and six SNPs were genotyped by improved multiple ligase detection reaction (iMLDR). RESULTS: We found that there were no significant differences regarding the allele and genotype frequencies of LEP rs11761556, rs12706832, rs2167270, LEPR rs1137100, rs1137101, rs1805096 between PTB patients and healthy controls (all P > 0.05), as well as the results of the dominant model and recessive model (all P > 0.05). In the LEP gene, the rs11761556 AA genotype frequency was significantly associated with the development of fever and pulmonary infection in PTB patients (P = 0.035, P = 0.049). In addition, the relation between main haplotypes and PTB patients was also analyzed, but only haplotype CAG in LEP was significantly associated with PTB susceptibility (P = 0.012). CONCLUSIONS: LEP and LEPR heritable variation were not contribute to the pathogenesis of PTB in Chinese. While rs11761556 variant might associate with several clinical features of PTB.

Weight gain rate in the second and third trimesters and fetal growth in women with gestational diabetes mellitus: a retrospective cohort study.

BACKGROUND: Controversial evidence regarding the applicability of the IOM's gestational weight gain (GWG) targets for women with gestational diabetes mellitus (GDM) has been reported. However, little is known about the weight gain rate (WGR) during the second and third trimesters. Moreover, previous studies failed to assess the effect modification of pre-pregnancy BMI because of the limited sample size. Therefore, we aimed to assess the applicability of the IOM recommendation for the WGR in women with GDM in different pre-pregnancy BMI categories. METHODS: We conducted this retrospective cohort study of 5275 women with GDM who delivered at Guangzhou Women and Children's Medical Center (GWCMC) between January 2017 and January 2021. Demographic and clinical information was collected from the electronic medical record system. The primary exposure was the WGR in the late second and third trimesters; they were classified as below, within, and above the IOM standard. The outcomes were fetal growth indicators, including large-for-gestational-age (LGA), macrosomia, small-for-gestational-age (SGA), and low birth weight (LBW). The associations between the WGR and such outcomes were assessed using multiple logistic regression. RESULTS: A WGR below the IOM standard was associated with the decreased odds of LGA (adjusted OR 0.74; 95% CI 0.49-1.13) and macrosomia (adjusted OR 0.54, 95% CI 0.32-0.92) for women with GDM in the normal weight BMI class. Such decreases were observed greater for women with GDM in the overweight/obese class, with adjusted ORs of 0.34 (95% CI 0.09-0.88) for LGA and 0.31 (95% CI 0.01-0.84) for macrosomia, respectively. No significant difference was observed in the odds ratios of SGA and LBW across the different WGR groups. CONCLUSION: LGA and macrosomia are the main outcomes associated with the WGR in the late second and third trimesters, and a WGR below the IOM standard was associated with a decreased odds of such outcomes compared with a WGR within the IOM standard in women with GDM in the normal weight and overweight/obese classes. Our findings suggest that a stricter WGR target than that of the current IOM standard may be more beneficial for women with GDM.

Restoring VTA DA neurons excitability accelerates emergence from sevoflurane general anesthesia of anxiety state.

Preoperative anxiety is common and often comes with a higher probability of worse recovery. However, the neurological mechanism of the effect of preoperative anxiety on general anesthesia and subsequent awakening remains unknown. In this study, we report an anxious state results in delayed awakening in anxiety model mice from sevoflurane general anesthesia. More profound inhibition of DA neurons in the VTA contributes to delayed awakening. Optogenetic stimulation of VTA DA neurons can reverse the delay. The results indicate that VTA DA neurons may be involved in the delay in awakening from general anesthesia caused by anxiety.

Exposure to environmental tobacco smoke during pregnancy and infancy increased the risk of upper respiratory tract infections in infants: A birth cohort study in Wuhan, China.

We aimed to evaluate the association of the exposure to environmental tobacco smoke (ETS) during pregnancy and infancy with the risk of upper respiratory tract infections (URTI) in infants based on a Chinese birth cohort study. Among 4178 infants who constituted the final study population, 46.8% experienced URTI in their first year of life. The hazard ratios (HR) and 95% confidence intervals (CI) for the risk of URTI were assessed using Cox regression models. Compared with no ETS during pregnancy, continued ETS during pregnancy was independently associated with a higher risk of URTI (HR: 1.36, 95% CI: 1.13, 1.63) after adjustment for potential confounders and also associated with earlier occurrence of URTI (log-rank P = .002). The association remained consistent across the strata defined according to maternal age, number of siblings, sex, and breastfeeding. Exposure to ETS during infancy was associated with URTI only among infants who were breastfed for less than 12 months (P for interaction < 0.05).Furthermore, infants exposed to ETS during both pregnancy and infancy showed the highest HR of 1.46 (95% CI: 1.16, 1.85) for URTI. Efforts should be made to protect pregnant women and infants from the adverse effects of indoor and outdoor ETS.

Association of ficolin-1 and ficolin-3 gene variation and pulmonary tuberculosis susceptibility in a Chinese population.

BACKGROUND: The aim of our study was to estimate the association of ficolin-1 (FCN1) gene (rs10120023, rs1071583) and ficolin-3 (FCN3) gene (rs3813800, rs10794501) polymorphisms and pulmonary tuberculosis (PTB) susceptibility, as well as their several clinical features, in a Chinese population. METHODS: This study included a cohort of 489 PTB patients and 489 healthy controls, and the four SNPs were genotyped by improved multiple ligase detection reaction (iMLDR). RESULTS: We found that there were no significant differences regarding the allele and genotype frequencies of FCN1 rs10120023, rs1071583 and FCN3 rs3813800, rs10794501 between PTB patients and healthy controls (all p > 0.05). The association of three main haplotypes (CC, CT, and TC) in FCN1 and three main haplotypes (CT, GA, and GT) in FCN3 with PTB susceptibility was also analyzed, and no significant association was detected (all p > 0.05). In FCN1, the rs1071583 TT genotype was significantly associated with the occurrence of drug resistance in PTB patients (p = 0.040). In addition, the GG genotype and G allele frequencies of rs3813800 in FCN3 gene were significantly higher in PTB patients with pulmonary infection (p = 0.027, p = 0.020, respectively). CONCLUSIONS: FCN1 and FCN3 genetic variation were not contributed to the pathogenesis of PTB in Chinese. While rs1071583 and rs3813800 variant might associate with several clinical characteristics of PTB.

Association between the maternal protein nutrition status during pregnancy and the risk of preterm birth.

We aimed to assess protein nutrition status during pregnancy by maternal plasma total protein (MTP) levels in urban pregnant women and to explore the association between the trimester-specific MTP levels and risk of preterm birth (PTB). A prospective design was conducted in 3,382 mother-newborn pairs with the second-trimester maternal MTP information and in 3,478 mother-newborn pairs with the third-trimester MTP information. Multiple Cox proportional hazard regression and multiple linear regression were used to analyse the associations between MTP levels and PTB risk as well as gestational duration, respectively. Nearly all the second-trimester MTP levels were within the clinical reference range, but more than 40% of the third-trimester MTP levels were less than the lower limit of normal. No significant association was found between the second-trimester MTP level and PTB risk. However, the adjusted hazard ratios (HRs) of PTB across increasing quartiles of the third-trimester MTP levels were 1.00 (reference), 0.59 (0.36, 0.95), 0.35 (0.20, 0.60), and 0.32 (0.19, 0.53) (p for trend < 0.001), respectively. Each standard deviations increment of the third-trimester MTP was associated with increase of 0.13 weeks in gestational duration. Moreover, stratified analyses showed that the effects of third-trimester MTP on PTB risk and gestational duration were stronger in pregnant women carrying female offspring than those carrying male offspring (p for interaction < 0.05). The third-trimester MTP level was inversely associated with PTB risk and was positively associated with gestational duration. Improving third-trimester MTP level may be helpful for preventing PTB.

Delayed Lactogenesis Is Associated with Suboptimal Breastfeeding Practices: A Prospective Cohort Study.

BACKGROUND: Breastfeeding has many established health benefits to both babies and mothers. There is limited evidence on the association between delayed lactogenesis and breastfeeding practices. OBJECTIVE: We assessed the association between delayed lactogenesis and breastfeeding practices in women initiating breastfeeding. DESIGN: We used data from a prospective cohort study in Wuhan, China, which enrolled pregnant women at 8-16 weeks of gestation and followed up to postpartum. Women were included who had a singleton live birth, initiated breastfeeding, and provided information on infant feeding. Maternal lactogenesis status was assessed by face-to-face interview at day 4 postpartum. Breastfeeding practices (full breastfeeding and/or any breastfeeding) were queried by telephone interview at 3, 6, and 12 mo postpartum. Poisson regression and Cox regression were used to identify the association between delayed lactogenesis and breastfeeding practices. RESULTS: Delayed lactogenesis was reported by 17.9% of the 2877 participants. After adjusting for potential confounders, when compared with timely lactogenesis, delayed lactogenesis was significantly associated with higher risk of inability to sustain full breastfeeding at 3 mo postpartum (RR: 1.24, 95% CI: 1.10, 1.39) and 6 mo postpartum (RR: 1.14, 95% CI: 1.04, 1.24). Delayed lactogenesis was also significantly associated with early termination of any breastfeeding (HR: 1.15, 95% CI: 1.01, 1.30) in the adjusted model. In a combined analysis, women with higher gestational weight gain (GWG, ≥16 kg for underweight and normal weight, 15 kg for overweight/obesity) and who subsequently experienced delayed lactogenesis had the highest risk of ending any breastfeeding earlier (adjusted HR: 1.32, 95% CI: 1.11, 1.55) compared with those who gained less GWG and experienced timely lactogenesis. CONCLUSIONS: This study shows that delayed lactogenesis was associated with low rate of full breastfeeding and shorter duration of any breastfeeding. Greater efforts to promote breastfeeding should be targeted towards women with delayed lactogenesis.

Polymerization of Polar Monomers Mediated by Main-Group Lewis Acid-Base Pairs.

The development of new or more sustainable, active, efficient, controlled, and selective polymerization reactions or processes continues to be crucial for the synthesis of important polymers or materials with specific structures or functions. In this context, the newly emerged polymerization technique enabled by main-group Lewis pairs (LPs), termed as Lewis pair polymerization (LPP), exploits the synergy and cooperativity between the Lewis acid (LA) and Lewis base (LB) sites of LPs, which can be employed as frustrated Lewis pairs (FLPs), interacting LPs (ILPs), or classical Lewis adducts (CLAs), to effect cooperative monomer activation as well as chain initiation, propagation, termination, and transfer events. Through balancing the Lewis acidity, Lewis basicity, and steric effects of LPs, LPP has shown several unique advantages or intriguing opportunities compared to other polymerization techniques and demonstrated its broad polar monomer scope, high activity, control or livingness, and complete chemo- or regioselectivity, as well as its unique application in materials chemistry. These advances made in LPP are comprehensively reviewed, with the scope of monomers focusing on heteroatom-containing polar monomers, while the polymerizations mediated by main-group LAs and LBs separately that are most relevant to the LPP are also highlighted or updated. Examples of applying the principles of the LPP and LP chemistry as a new platform for advancing materials chemistry are highlighted, and currently unmet challenges in the field of the LPP, and thus the suggested corresponding future research directions, are also presented.

The mRNA expression of visfatin and lipocalin-2 in peripheral blood mononuclear cells from patients with pulmonary tuberculosis.

BACKGROUND: In this study, we aimed to assess mRNA expressions of visfatin and lipocalin-2 in peripheral blood mononuclear cells (PBMCs) from patients with pulmonary tuberculosis (PTB). METHODS: Overall, 79 PTB patients and 71 healthy controls were enrolled. In PBMCs, mRNA expressions of visfatin and lipocalin-2 were detected using real-time quantitative polymerase chain reaction (qRT-PCR), and the diagnostic value of these adipokine mRNAs in PTB patients was calculated through receiver operating characteristic (ROC) analysis. RESULTS: In PBMCs from PTB patients, the visfatin mRNA level was significantly higher than in healthy controls (P < .001), with no significant association between the lipocalin-2 mRNA level and PTB patients (P = .933). In PTB patients, lipocalin-2 mRNA expression positively correlated with the erythrocyte sedimentation rate (ESR) (P = .010). However, the visfatin mRNA level was not associated with any major clinical and laboratory parameter in PTB patients. The ROC curve demonstrated that visfatin could help distinguish PTB patients from healthy controls, with an optimal cutoff value of 0.645 and a corresponding sensitivity of 79.7%. CONCLUSIONS: The altered visfatin mRNA expression indicated that this adipokine might play a role in PTB and could be an auxiliary biomarker for PTB diagnosis.

Association of vitamin D supplementation with respiratory tract infection in infants.

Vitamin D deficiency has been reported to be associated with respiratory tract infection (RTI). However, evidence regarding the effects of vitamin D supplementation on susceptibility of infants to RTI is limited. In this prospective birth cohort study, we examined whether vitamin D supplementation reduced RTI risk in 2,244 infants completing the follow-up from birth to 6 months of age. The outcome endpoint was the first episode of paediatrician-diagnosed RTI or 6 months of age when no RTI event occurred. Infants receiving vitamin D supplements at a daily dose of 400-600 IU from birth to the outcome endpoint were defined as vitamin D supplementation and divided into four groups according to the average frequency of supplementation: 0, 1-2, 3-4, and 5-7 days/week. We evaluated the relationship between vitamin D supplementation and time to the first episode of RTI with Kaplan-Meier plots. The associations of vitamin D supplementation with infant RTI, lower RTI (LRTI), and RTI-related hospitalization were assessed using modified Poisson regression. The median time to first RTI episode was 60 days after birth (95% CI [60, 90]) for infants without supplementation and longer than 6 months of age for infants with supplementation (p < .001). We observed inverse trends between supplementation frequency and risk of RTI, LRTI, and RTI-related hospitalization (p for trend < .001), with the risk ratios in the 5-7 days/week supplementation group of 0.46 (95% CI [0.41, 0.50]), 0.17 (95% CI [0.13, 0.24]), and 0.18 (95% CI [0.12, 0.27]), respectively. These associations were significant and consistent in a subgroup analysis stratified by infant feeding.

Lewis-Pair-Mediated Selective Dimerization and Polymerization of Lignocellulose-Based ß-Angelica Lactone into Biofuel and Acrylic Bioplastic.

This contribution reports an unprecedentedly efficient dimerization and the first successful polymerization of lignocellulose-based ß-angelica lactone (ß-AL) by utilizing a selective Lewis pair (LP) catalytic system, thereby establishing a versatile bio-refinery platform wherein two products, including a dimer for high-quality gasoline-like biofuel (C8 -C9 branched alkanes, yield=87 %) and a heat- and solvent-resistant acrylic bioplastic (Mn up to 26.0 kg mol-1 ), can be synthesized from one feedstock by one catalytic system. The underlying reason for exquisite selectivity of the LP catalytic system toward dimerization and polymerization was explored mechanistically.

The association between intake of dietary lycopene and other carotenoids and gestational diabetes mellitus risk during mid-trimester: a cross-sectional study.

This study aimed to determine whether increased carotenoids intake was associated with reduced risk of gestational diabetes mellitus (GDM). We performed a cross-sectional analysis using data from Tongji Maternal and Child Health Cohort study. The dietary carotenoids intake of 1978 pregnant women was assessed using a researcher-administered FFQ before undertaking an oral glucose tolerance test at 24-28 weeks. Multivariate logistic and linear regression analyses were used to obtain the effect estimates. Participants in the highest quartile of lycopene intake showed a lower risk of GDM (OR 0·50; 95 % CI 0·29, 0·86; P for trend = 0·007) compared with those in the lowest quartile; each 1 mg increase in lycopene consumption was associated with a 5 % (95 % CI 0·91, 0·99; P for trend = 0·020) decrease in GDM risk. No significant association was found between α-carotene, ß-carotene, ß-cryptoxanthin, lutein/zeaxanthin intake and GDM risk. Multiple linear regression analysis suggested an inverse association between lycopene intake and fasting blood glucose (FBG) (P for trend < 0·001); each 1 mg increase in lycopene intake was associated with 0·005 (95 % CI 0·002, 0·007; P for trend < 0·001) mmol/l decrease in FBG. Interaction analysis indicated consistent effect on each age or pre-BMI subgroup; however, a stronger protective effect of lycopene intake against GDM was observed among primigravid women (OR 0·20; 95 % CI 0·07, 0·55 in the highest v. the lowest quartile of intake; P for interaction = 0·036). In conclusion, dietary lycopene intake was mainly assumed via reducing FBG to decrease GDM risk, and the protection was relatively increased among primigravid women.

Association of single nucleotide polymorphisms in resistin gene with rheumatoid arthritis in a Chinese population.

BACKGROUND: Recent evidences have revealed that resistin is associated with the development of rheumatoid arthritis (RA). The aim of this study was to analyze the association of resistin gene single nucleotide polymorphisms (SNPs) with RA susceptibility. METHODS: In this study, we finally analyzed three resistin SNPs (rs1862513, rs3745368, and rs3745367) in 278 RA patients and 276 normal controls recruited from Chinese population using TaqMan SNP genotyping assays. RESULTS: There were no significant differences for the distribution of allele and genotype frequencies of these three SNPs between RA patients and normal controls (all P > .05). The genotype effects of dominant, recessive models were also analyzed, and no significant association was detected (all P > .05). Haplotype analysis suggested that the frequency of haplotype GAA was notably lower in RA patients in comparison with normal controls (OR = 0.317, 95% CI: 0.125-0.807, P = .011). CONCLUSION: In a ward, our results indicated that resistin gene polymorphisms might affect the genetic predisposition of RA in Chinese population.

Controlled and Efficient Polymerization of Conjugated Polar Alkenes by Lewis Pairs Based on Sterically Hindered Aryloxide-Substituted Alkylaluminumitle.

Reported herein is the development of an effective strategy for controlled and efficient Lewis pair polymerization of conjugated polar alkenes, including methyl methacrylate (MMA), n-butyl methacrylate (nBuMA), and γ-methyl-α-methylene-γ-butyrolactone (γMMBL), by the utilization of sterically encumbered Al(BHT)2Me (BHT: 2,6-di-tert-butyl-4-methylphenol) as a Lewis acid that shuts down intramolecular backbiting termination. In combination with a selected N-heterocyclic carbene (NHC) as a Lewis base, the polymerization of MMA exhibited activity up to 3000 h-1 TOF and an acceptable initiation efficiency of 60.6%, producing polymers with high molecular weight (Mn up to 130 kg/mol) and extremely narrow dispersity (D = 1.06~1.13). This controlled polymerization with a living characteristic has been evidenced by chain-extension experiments and chain-end analysis, and enabled the synthesis of well-defined diblock copolymers.

Association of leptin and leptin receptor gene polymorphisms with systemic lupus erythematosus in a Chinese population.

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.