scATAC-Ref: a reference of scATAC-seq with known cell labels in multiple species.

Chromatin accessibility profiles at single cell resolution can reveal cell type-specific regulatory programs, help dissect highly specialized cell functions and trace cell origin and evolution. Accurate cell type assignment is critical for effectively gaining biological and pathological insights, but is difficult in scATAC-seq. Hence, by extensively reviewing the literature, we designed scATAC-Ref (https://bio.liclab.net/scATAC-Ref/), a manually curated scATAC-seq database aimed at providing a comprehensive, high-quality source of chromatin accessibility profiles with known cell labels across broad cell types. Currently, scATAC-Ref comprises 1 694 372 cells with known cell labels, across various biological conditions, >400 cell/tissue types and five species. We used uniform system environment and software parameters to perform comprehensive downstream analysis on these chromatin accessibility profiles with known labels, including gene activity score, TF enrichment score, differential chromatin accessibility regions, pathway/GO term enrichment analysis and co-accessibility interactions. The scATAC-Ref also provided a user-friendly interface to query, browse and visualize cell types of interest, thereby providing a valuable resource for exploring epigenetic regulation in different tissues and cell types.

[Effects of Polystyrene Microplastics on Growth, Physiology, Biochemistry, and Canopy Temperature Characteristics of Chinese Cabbage Pakchoi (Brassica chinensis L.)].

The aim of this study was to clarify the response characteristics of Chinese cabbage pakchoi (Brassica chinensis L.) under two particle size (100 nm and 1000 nm) polystyrene microplastic (PS-MPs) stress conditions. This study can provide a theoretical basis and experimental reference for the interpretation of the physiological and ecological mechanism of microplastic pollution and the bioremediation of microplastic-contaminated soil. Hydroponic experiments were carried out to study the effects of two particle sizes (100 nm and 1000 nm) of PS-MPs on growth, photosynthetic physiology, antioxidant enzyme activities, nutritional quality, anatomical structure, and canopy temperature in Chinese cabbage pakchoi. The results showed that PS-MPs stress significantly inhibited the growth and development of Chinese cabbage pakchoi. When PS-MPs stress was increased, the phenotypic indicators were significantly reduced. Meanwhile, PS-MPs stress significantly enhanced the oxidative stress response of Chinese cabbage pakchoi, such as the activities of catalase (CAT), peroxidase (POD), superoxide dismutase (SOD), and ascorbate peroxidase (APX) and the content of malondialdehyde (MDA) in leaves. Such a change tended to decrease the thickness of fenestrated and leaf and spongy tissues. Moreover, PS-MPs stress significantly increased the canopy population temperature of the Chinese cabbage pakchoi leaves. Microplastic stress had obvious inhibitory effects and toxic damage on the growth, development, and physical and chemical properties of Chinese cabbage pakchoi.

Protective Mechanism of Electroacupuncture on Peripheral Neurotoxicity Induced by Oxaliplatin in Rats.

OBJECTIVE: To study the effect of electroacupuncture (EA) on oxaliplatin-induced peripheral neuropathy (OIPN) in rats. METHODS: Male Sprague-Dawley rats were equally divided into 3 groups using a random number table: the control group, the OIPN group, and the EA (OIPN + EA) group, with 10 rats in each. The time courses of mechanical, cold sensitivity, and microcirculation blood flow intensity were determined. The morphology of the dorsal root ganglion (DRG) was observed by electron microscopic examination. The protein levels of nuclear factor E2-related factor 2 (Nrf2), heme oxygenase-1 (HO-1), and the transient receptor potential (TRP) protein family in DRGs were assayed by Western blot. RESULTS: EA treatment significantly reduced mechanical allodynia and cold allodynia in OIPN rats (P<0.01). Notably, oxaliplatin treatment resulted in impaired microcirculatory blood flow and pathomorphological defects in DRGs (P<0.01). EA treatment increased the microcirculation blood flow and attenuated the pathological changes induced by oxaliplatin (P<0.01). In addition, the expression levels of Nrf2 and HO-1 were down-regulated, and the TRP protein family was over-expressed in the DRGs of OIPN rats (P<0.01). EA increased the expression levels of Nrf2 and HO-1 and decreased the level of TRP protein family in DRG (P<0.05 or P<0.01). CONCLUSION: EA may be a potential alternative therapy for OIPN, and its mechanism may be mainly mediated by restoring the Nrf2/HO-1 signaling pathway.

[The Advances and Application of ABO Blood Group Genotyping Technology --Review].

The ABO blood group system is the most important blood group system in clinical transfusion. Serological technology is a routine method for the identification of ABO blood groups, however, which have some limitations in the identification of complicated ABO samples with weakened antigens or antibodies, abnormal plasma proteins, polyagglutination, or cold agglutinin, etc. With the development of molecular biology technology, ABO blood group gene was cloned, and ABO blood group genotyping technology based on DNA was established. The genotyping technologies with different throughputs such as PCR-SSP, Droplet-AS-PCR, PCR-RFLP, PCR-SBT, SNaPshot, MALDI-TOF MS and NGS have emerged. Genotyping has overcome the limitations of serology, and has become an indispensable method to solve difficult blood type, providing strong support for the correct identification of ABO blood group, and providing guarantee for precision blood transfusion. This review summarizes the progress and application of ABO blood group genotyping methods.

[Therapeutic effect of Fanzhen Jieci needling on discogenic sciatica: a randomized controlled trial].

OBJECTIVE: To compare the therapeutic effect between Fanzhen Jieci (warming acupuncture plus fast needling) combined with conventional acupuncture and simple conventional acupuncture on discogenic sciatica. METHODS: A total of 76 patients with discogenic sciatica were randomized into a Fanzhen Jieci group and a conventional acupuncture group, 38 cases in each one. Conventional acupuncture was applied at Shenshu (BL 23), Dachangshu (BL 25), L1-L5 Jiaji (EX-B 2) and Huantiao (GB 30) on the affected side, etc. in the conventional acupuncture group. On the basis of the treatment in the conventional acupuncture group, Fanzhen Jieci was applied at L1-L5 Jiaji (EX-B 2) and Huantiao (GB 30) on the affected side in the Fanzhen Jieci group, i.e. warming acupuncture was applied at L1-L5 Jiaji (EX-B 2), and fast needling was applied at Huantiao (GB 30) on the affected side for a depth of 40-60 mm, so as to introduce a sensation of electric shock transmitting to lower limb, and then the needle was immediately withdrawn. The treatment was given once every other day, 3 times a week for 3 weeks in both groups. The visual analogue scale (VAS) score of leg and low back pain, the Oswestry disability index (ODI) score and the 36-item short form health survey (SF-36) score before and after treatment were compared between the two groups. RESULTS: Compared before treatment, the VAS scores of leg and low back pain and the ODI scores after treatment were decreased in both groups (P<0.001), the changes of the VAS scores of leg and low back pain in the Fanzhen Jieci group were larger than those in the conventional acupuncture group (P<0.05). After treatment, except for the role emotional and health transition scores, the various scores of SF-36 were increased compared before treatment in the Fanzhen Jieci group (P<0.01); except for the role physical, role emotional and health transition scores, the various scores of SF-36 were increased compared before treatment in the conventional acupuncture group (P<0.01). After treatment, the physical functioning, role physical, bodily pain, mental health and general health scores of SF-36 in the Fanzhen Jieci group were higher than those in the conventional acupuncture group (P<0.05). CONCLUSION: Fanzhen Jieci combined with conventional acupuncture can effectively relieve the pain and improve the mental state in patients with discogenic sciatica, its therapeutic effect is superior to simple conventional acupuncture.

[Different Subtypes Caused by c.721C>T Substitution in the Exon 7 of ABO Gene].

OBJECTIVE: To analyze the different subtypes caused by c.721C>T substitution in the exon 7 of the ABO gene, and to investigate the related molecular mechanism of different antigens expression. METHODS: ABO subtypes in 7 samples were identified by standard serological methods. The exons 6, 7, and adjacent intron of ABO gene were amplified by Polymerase Chain Reaction (PCR), and the PCR products were analyzed by direct DNA sequencing and cloning sequencing. RESULTS: ABO subtypes phenotypes were AW (1 case), BW (3 cases), ABW (2 cases), A2 or Aint (1 case). The result showed that the 7th exon of ABO gene was c.721C>T variety based on A1.02, B1.01, and O.01.02; the alleles were AW.43（1 case）, BW.03（5 cases） and O.01.07（1 case）, ABO genotypes were ABO*AW.43/O.01.02 (1 case) , ABO*BW.03/O.01.02 (3 cases), ABO*A1.02/BW.03 (2 cases), and ABO*A2.05/O.01.07 (1 case). CONCLUSION: c.721C>T substitution in the ABO gene causes p.Arg241Trp exchange resulting in the decreasing of GTA or GTB activities and weaker antigen expression. O.01.07 is a null allele which cannot form a functional catalytic enzyme has no effect on A2 subtype antigen expression.

[Study on the Identification of Samples Mistyped as O Phenotype and the Strategy of Safe Blood Transfusion].

OBJECTIVE: To investigate the indentification method of samples mistyped as O phenotype and to explore the precision transfusion strategy. METHODS: The blood samples from donors and patients admitted in our center from 2018 to 2019 was collected. The samples with O phenotype suspected subtypes were further determined by tube test, adsorption-elution test, etc. Molecular testing was used to sequence the related blood type genes of the subjects. RESULTS: Among 14 subjects misjudged as O, 11 different genotypes were identified, in which 3 blood donors were Ael02/O02, Bel03/O02, and one para-Bombay with B101/O02 (FUT1: h3h3; FUT2: Se357Se357); the genotypes of 11 patients were Ael02/O01, 2 cases with Ael02/O02, Ael08/O01, Aw37/O02, Aw43/O02, Bel03/O01, 3 cases with Bel03/O02, and one case was para-Bombay with A102/B101 (FUT1: h3h3; FUT2: Se357Se357). CONCLUSION: The phenotypes of Ael, Bel, Aw and para-Bombay subtypes are easily misjudged as type O. Molecular technology is helpful to identify the genotype of subtypes, and the corresponding transfusion strategies could be reasonably performed.

Electroacupuncture Attenuates Neuropathic Pain and Comorbid Negative Behavior: The Involvement of the Dopamine System in the Amygdala.

Neuropathic pain (NeuP) is an important clinical problem accompanying negative mood symptoms. Neuroinflammation in the amygdala is critically involved in NeuP, and the dopamine (DA) system acts as an important endogenous anti-inflammatory pathway. Electroacupuncture (EA) can improve the clinical outcomes in NeuP, but the underlying mechanisms have not been fully elucidated. This study was designed to assess the effectiveness of EA on pain and pain-related depressive-like and anxiety-like behaviors and explore the role of the DA system in the effects of EA. Male Sprague-Dawley rats were subjected to the chronic constrictive injury (CCI) model to induce NeuP. EA treatment was carried out for 30 min once every other day for 3 weeks. The results showed that CCI caused mechanical hyperalgesia and depressive and anxiety-like behaviors in rats and neuroinflammation in the amygdala, such as an increased protein level of TNFα and IL-1ß and activation of astrocytes. EA treatment significantly improved mechanical allodynia and the emotional dysfunction induced by CCI. The effects of EA were accompanied by markedly decreased expression of TNFα, IL-1ß, and glial fibrillary acid protein (GFAP) in the amygdala. Moreover, EA treatment reversed CCI-induced down-regulation of DA concentration, tyrosine hydroxylase (TH) expression, and DRD1 and DRD2 receptors. These results suggest that EA-ameliorated NeuP may possibly be associated with the DA system to inhibit the neuroinflammation in the amygdala.

"Fan-zhen Jie-ci" acupuncture therapy for treatment of discogenic sciatica: protocol for a single-blind, randomized controlled clinical trial.

BACKGROUND: Curative medical treatment for patients with discogenic sciatica is limited. Acupuncture is an important non-pharmacological therapy reported to have positive therapeutic effects on discogenic sciatica. According to traditional Chinese acupuncture theory, discogenic sciatica is a channel tendon disease which can be treated by a special "Fan-zhen Jie-ci (FZJC)" method. Our recent preliminary clinical evidence indicated that the FZJC method had a positive treatment effect on the disease. This study will further evaluate the efficacy and safety of FZJC on patients with discogenic sciatica. METHODS: A single-blind randomized controlled clinical trial will be conducted, assigning 76 participants with discogenic sciatica to a randomly assigned FZJC group or a control group. Acupuncture treatment combined with the FZJC method will be applied in the FZJC group while routine acupuncture treatment only will be applied in the control group. Treatments will be administered three times a week for a total of 3 consecutive weeks. The primary outcome of this trial is change in the visual analogue scale of leg pain (VAS-LP), and the secondary outcomes are changes in the visual analogue scale of back pain (VAS-BP), the Brief Pain Inventory (BPI), the Oswestry Disability Index (ODI), the 36-Item Short Form Health Survey (SF-36), and serum concentrations of mitochondrial DNA (mtDNA) and high sensitivity C reactive protein (hsCRP). DISCUSSION: The results of this study will provide insight into the efficacy and safety of FZJC acupuncture as a treatment for discogenic sciatica. TRIAL REGISTRAION: The trial has been registered at the Chinese Clinical Trial Registry (ChiCTR1900026272) and the Acupuncture-Moxibustion Clinical Trial Registry (AMCTR-IOR-19000275).

[Research advances in the limbic system involved in acupuncture treatment of chronic pain].

Pain, especially chronic pain, can cause multiple changes including sensory-discriminative, emotional-affective, and cognitive-behavior changes and thus greatly affects patients' physical and mental health and quality of life. Therefore, multi-dimensional regulation of paralgesia, cognitive impairment, and negative emotion in patients with chronic pain has become a hot spot in recent studies. The brain regions in the limbic system are involved in the formation and expression of "pain sensation-emotion-cognition". Existing evidence suggests that acupuncture has a multi-dimensional comprehensive regulatory effect on chronic pain, and the brain regions in the limbic system also mediate the analgesic effect of acupuncture. However, further studies are still needed to explore the role and mechanism of action of these brain regions in the multi-dimensional regulation of chronic pain by acupuncture. This article reviews the research advances in the neural mechanism of the limbic system in chronic pain and the role of the limbic system in mediating acupuncture analgesia and mainly elaborates on the mechanism of action of the brain regions in the limbic system in the multi-dimensional regulation of chronic pain.

The relationship between gastric cancer, its precancerous lesions and bile reflux: A retrospective study.

OBJECTIVE: To evaluate the relationship between gastric cancer (GC) and precancerous lesions and bile reflux. METHODS: Medical records of 30 465 participants who underwent gastroscopy between January and December 2018 in our center were reviewed. Their age, sex, time of endoscopy, endoscopic/histologic diagnosis and grade of bile reflux were recorded. The participants were further divided into the chronic gastritis group (n = 27 807), a precancerous lesion group (n = 1943) and a GC group (n = 715). The χ2 tests and hierarchical analyses were performed. RESULTS: Patients aged 18-27 years had a higher bile reflux rate than those aged 28-37 and 68-75 years (P < 0.001), while it did not differ between patients aged <50 years and those over 50 years (P = 0.639). It was lower in men than in women (P < 0.001). The bile reflux rate did not differ in terms of months, seasons and half of the year (all P > 0.05), but differed between morning and afternoon when they underwent the endoscopy (P = 0.000). There was an interrelationship between the severity of gastric mucosal disease and bile reflux grade (r = 0.171). After excluding the effects of sex, age and time of endoscopy on bile reflux, bile reflux rate in chronic gastritis and precancerous lesions was lower than in gastric cancer (P < 0.01). CONCLUSIONS: Bile reflux may be a risk factor for gastric cancer and precancerous lesions. A high grade of bile reflux may be associated with the progression of gastric mucosal diseases.

Integrative Epigenomic Analysis of Transcriptional Regulation of Human CircRNAs.

Circular RNAs (circRNAs) are evolutionarily conserved and abundant non-coding RNAs whose functions and regulatory mechanisms remain largely unknown. Here, we identify and characterize an epigenomically distinct group of circRNAs (TAH-circRNAs), which are transcribed to a higher level than their host genes. By integrative analysis of cistromic and transcriptomic data, we find that compared with other circRNAs, TAH-circRNAs are expressed more abundantly and have more transcription factors (TFs) binding sites and lower DNA methylation levels. Concordantly, TAH-circRNAs are enriched in open and active chromatin regions. Importantly, ChIA-PET results showed that 23-52% of transcription start sites (TSSs) of TAH-circRNAs have direct interactions with cis-regulatory regions, strongly suggesting their independent transcriptional regulation from host genes. In addition, we characterize molecular features of super-enhancer-driven circRNAs in cancer biology. Together, this study comprehensively analyzes epigenomic characteristics of circRNAs and identifies a distinct group of TAH-circRNAs that are independently transcribed via enhancers and super-enhancers by TFs. These findings substantially advance our understanding of the regulatory mechanism of circRNAs and may have important implications for future investigations of this class of non-coding RNAs.

[Establishment of Internal Quality Control Method for Mixed and Split Samples by NAT in Blood Donor Screening].

OBJECTIVE: To establish and evaluate the methods of internal quality control in blood donor screening by nucleic acid test (NAT). METHODS: After HBV-DNA standard quality control (QC) sample (60 IU/ml) was diluted by pooling 6 samples, the concentration was 10.0 IU/ml, which was approach twice of the low limit. When the pooling result turned out reactive, the pooling samples need to be split into single sample to process. Meanwhile, the standard QC samples were tested as well. The same batch QC samples were tested 20 times respectively, calculate the mean (x̄), standard deviation (SD) and CV. Make Levey-Jennings QC curves by setting x̄±2SD as warning, x̄±3SD as rejected. The Levey-Jennings quality controls chart was mapped by using Microsoft Excel. RESULTS: After 20 times test of mixed/split samples, the x̄±2SD were 33.03±1.47 and 30.08±0.98, the x̄±3SD were 33.03±2.20 and 30.08±1.47, the CV were 2.22% and 1.63%, respectively. The P value of t test was 0.08 and 0.17 respectively, there was no statistically significant difference between the 2 group. CONCLUSION: When establish an internal QC system in the screening laboratory by nucleic acid testing, the concentration of the QC samples should be equal to normal specimens. This type of QC system may validate the extraction and amplification of the nucleic acid, and improve the stability of the test results.

Therapeutic potential of IL-15 in rheumatoid arthritis.

Rheumatoid arthritis (RA) is a chronic, destructive inflammatory autoimmune disease. Cytokine-mediated immunity has been found to play an important role in the pathogenesis of autoimmune diseases including RA. Recently, much attention has been paid on the role of IL-15, which is a member of the 4 α-helix bundle cytokine family. IL-15 was detected in serum and synovial fluid from RA patients and arthritis mice models. Moreover, administration of IL-15 leads to the development of severe inflammatory arthritis, suggesting that IL-15 may be therapeutically relevant in RA. Therefore, targeting IL-15 may be significantly important and valuable. In this article, we discuss the biological features and effects of IL-15 and summarize recent advances on the pathological roles of IL-15 in RA and treatment for RA.

[Effects of periodontal-pulp combined therapy on severe periodontitis].

PURPOSE: To explore the necessity of periodontal-pulp combined therapy for severe periodontitis. METHODS: From May 2009 to September 2011, 52 patients who were diagnosed of severe periodontitis were involved in this study. They were randomly divided into 2 groups. Patients in group A were given periodontal-pulp combined therapy, while patients in group B were given periodontal therapy. SBI, PD, AL were recorded in baseline, 3 months, 6 months, 1 year and 2 years after treatment. Statistical analysis was performed with SPSS13.0 software package. RESULTS: All the indexes were different between 2 groups in baseline. Three months after treatment, all the indexes were not significantly different between two groups. Six months after treatment, SBI was significantly different between 2 groups, but PD and AL were not significantly different between 2 groups. One year after treatment, all the indexes were significantly different between 2 groups. Two years after treatment, SBI was not significantly different between 2 groups, but PD and AL were significantly different between two groups. The results of periodontal-pulp combined therapy were better than periodontal therapy. CONCLUSIONS: Periodontal-pulp combined therapy is necessary for patients with severe periodontitis.

Association of FCGR2A-R/H131 polymorphism with susceptibility to systemic lupus erythematosus among Asian population: a meta-analysis of 20 studies.

The results of studies on association between FCGR2A-R/H131 polymorphism and susceptibility to systemic lupus erythematosus (SLE) in the Asian population are controversial. To derive a more precise estimation on the genetic risk of FCGR2A-R/H131 variant for SLE in Asians, a meta-analysis was performed for genotypes R/R + R/H (dominant effect), R/R (recessive effect), and R allele in fixed/random effects models. Twenty studies involving 4,832 SLE patients and 6,190 controls were included. The meta-analysis showed that FCGR2A-R/H131 variant was associated with development of SLE in overall Asians both at allele or genotype level (R vs H, OR 1.201, 95 % CI 1.098-1.315; RR + RH vs HH, OR 1.369, 95 % CI 1.115-1.682; RR vs RH + HH, OR 1.305, 95 % CI 1.029-1.654). After stratification by ethnic, a significant association of R allele with susceptibility to SLE was observed in the Chinese population (R vs H, OR 1.104, 95 % CI 1.030-1.183). Evidence from subgroup analyses in non-Chinese populations (all Asians excluding Chinese population) also showed a significant association (R vs H, OR 1.354, 95 % CI 1.207-1.519; RR + RH vs HH, OR 1.705, 95 % CI 1.234-2.355). In addition, FCGR2A-R131 allele was associated with a 1.186-fold (95 % CI 1.043-1.349) greater risk for the occurrence of nephritis in the Asians population with SLE. After stratification by ethnic, this significant association was only consistently identified in non-Chinese populations (R vs H, OR 1.220, 95 % CI 1.002-1.486). In summary, FCGR2A-R/H131 polymorphism is associated with SLE and lupus nephritis in Asians.

Analysis of different activation statuses of human mammary epithelial cells from young and old groups.

Human mammary epithelial cells have different proliferative statuses and demonstrate a close relationship with age and cell proliferation. Research on this topic could help understand the occurrence, progression and prognosis of breast cancer. In this article, using significance analysis of a microarray algorithm, we analyzed gene expression profiles of human mammary epithelial cells of different proliferative statuses and different age groups. The results showed there were significant differences in gene expression in the same proliferation status between elderly and young groups. Three common differentially expressed genes were found to dynamically change with the proliferation status and to be closely related to tumorigenesis. We also found elderly group had less status-related differential genes from actively proliferating status to intermediate status and more status- related differential genes from intermediate status than the young group. Finally, functional enrichment analyses allowed evaluation of the detailed roles of these differentially-expressed genes in tumor progression.

Vagal anandamide signaling via cannabinoid receptor 1 contributes to luminal 5-HT modulation of visceral nociception in rats.

Serotonin (5-HT) plays pivotal roles in the pathogenesis of postinfectious irritable bowel syndrome (PI-IBS), and luminal 5-HT time-dependently modulates visceral nociception. We found that duodenal biopsies from PI-IBS patients exhibited increased 5-HT and decreased anandamide levels and that decreased anandamide was associated with abdominal pain severity, indicating a link between 5-HT and endocannabinoid signaling pathways in PI-IBS. To understand this, we investigated the role of endocannabinoids in 5-HT modulation of visceral nociception in a rat model. Acute intraduodenally applied 5-HT attenuated the visceromotor response (VMR) to colorectal distention, and this was reversed by the cannabinoid receptor 1 (CB1) antagonist AM251. Duodenal anandamide (but not 2-arachidonoylglycerol) content was greatly increased after luminal 5-HT treatment. This effect was abrogated by the 5-HT 3 receptor (5-HT3R) antagonist granisetron, which was luminally delivered to preferentially target vagal terminals. Chemical denervation of vagal afferents blocked 5-HT-evoked antinociception and anandamide release. Chronic luminal 5-HT exposure for 5 days increased baseline VMR and VMR post-5-HT (days 4 and 5). Duodenal levels of anandamide and N-acyl-phosphatidylethanolamine-specific phospholipase D (NAPE-PLD, the anandamide-synthesizing enzyme) protein gradually declined from day 1 to 5. The time-dependent effects of 5-HT were abolished by daily granisetron pretreatment. Daily pretreatment with CB1 agonists or anandamide from day 3 attenuated 5-HT-induced hyperalgesia. These data suggest that vagal 5-HT3R-mediated duodenal anandamide release contributes to acute luminal 5-HT-induced antinociception via CB1 signaling, whereas decreased anandamide is associated with hyperalgesia upon chronic 5-HT treatment. Further understanding of peripheral vagal anandamide signaling may provide insights into the mechanisms underlying 5-HT-related IBS.

Emerging role of SIGIRR rs7396562(T/G) polymorphism in systemic lupus erythematosus in a Chinese population.

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease, with heterogeneous presentation. The aim of this study was to examine the association of a single-nucleotide polymorphism, rs7396562, of the interferon induced with single immunoglobulin IL-1-related receptor (SIGIRR) gene with SLE in a Chinese population. A total of 741 SLE patients and 731 healthy control subjects were enrolled in the present study. The genotyping of polymorphism (rs7396562) was determined by TaqMan allele discrimination assay on the 7,300 real-time polymerase chain reaction system. The frequency of T allele for rs7396562 in patients was significantly higher than in controls (T versus G, OR=1.318, 95 % confidence interval (CI)=1.139-1.525, P<0.001). Fortunately, some significant difference in genotype distribution was found between cases and controls (P<0.001). We also found some significant evidence for the association of the SIGIRR rs7396562 polymorphism with SLE between dominant and recessive model (TG+TT versus GG, P=0.002; TT versus TG+GG, P=0.002). We also analyzed the association of the SIGIRR rs7396562 T allele with clinical features; luckily, photosensitivity and malar rash had some significant signal with the SNP. In conclusion, our study represents the first report demonstrating an association of the SIGIRR rs7396562 polymorphism with SLE susceptibility in a Chinese population.

Lack of association between the polymorphisms of hypoxia-inducible factor 1A (HIF1A) gene and SLE susceptibility in a Chinese population.

Hypoxia-inducible factor 1 (HIF-1) introduced the immune imbalance between Th17 and Treg cells, which may play an important role in the pathogenesis of systemic lupus erythematosus (SLE). The aim of the present study was to determine whether the HIF1A gene influences the susceptibility to SLE. A study on this relationship has not been conducted to date. A total of 3,793 subjects (1,497 SLE patients and 2,296 controls) were included in this study. The genotyping of five single-nucleotide polymorphisms (SNPs) (rs11549465, rs12434438, rs1957757, rs1951795, rs7143164) was determined by Sequenom MassARRAY technology. The statistical analysis was conducted using chi-square test. Odds ratio (OR) with 95% confidence interval (CI) was calculated using unconditional logistic regression with adjustment of age and sex. The allele frequencies were not associated with the disease. No significant differences in genotype frequencies existed between the patients with SLE and the controls in all five SNPs. It is worth mentioning that the allele T at rs11549465, located at the exon sequence, revealed a trend but no significant difference towards the more frequent allele T in SLE than in controls (C versus T: OR=1.206, 95 % CI=0.972-1.495, p =0.088). The genotype effects of recessive, dominant, and codominant models were observed; however, no significant evidence for association was detected. Our findings suggest that the gene polymorphisms of HIF1A might not contribute to SLE susceptibility in the Chinese population. However, further studies are needed on an independent cohort from different genetic backgrounds to confirm HIF1A as an SLE genetic factor.