Role of non‑pulmonary vein triggers in persistent atrial fibrillation

Pulmonary vein isolation is an well-established treatment strategy for atrial fibrillation (AF), and it is especially effective for patients with paroxysmal AF. However, the success rate is limited for patients with persistent AF, because non-pul‑ monary vein triggers which increase AF recurrence are frequently found in these patients. The major non-pulmonary vein triggers are from the left atrial posterior wall, left atrial appendage, ligament of Marshall, coronary sinus, superior vena cava, and crista terminalis, but other atrial sites can also generate AF triggers. All these sites have been known to contain atrial myocytes with potential arrhythmogenic electrical activity. The prevalence and clinical characteristics of these non-pulmonary vein triggers are well studied; however, the clinical outcome of catheter ablation for persistent AF is still unclear. Here, we reviewed the current ablation strategies for persistent AF and the clinical implications of major non-pulmonary vein triggers.

Does Early Retrograde Intrarenal Surgery Improve the Cost-Effectiveness of Renal Stone Management?

Purpose@#This study aimed to evaluate the cost-effectiveness of treatment with retrograde intrarenal surgery (RIRS) versus repeated shock wave lithotripsy (SWL) in patients with renal calculi. @*Materials and Methods@#The non-retreatment rates (NRRs) and their respective real-world costs for RIRS and SWL were derived through retrospective analysis of health insurance claims data from 2015 to 2017. Decision tree modeling was performed to demonstrate the cost-effectiveness of RIRS. Furthermore, sensitivity analysis was performed to examine the robustness of the results. @*Results@#Analysis of the obtained data showed that NRRs of single SWL ranged from 46% to 56%, whereas NRRs of single RIRS ranged from 75% to 93%. Introducing RIRS early in the treatment sequence was observed to be favorable for the reduction of overall failure (overall NRR, 0.997) compared to the results of repeated SWL (overall NRR, 0.928). The implementation of decision tree modeling revealed that the cost per retreatment-avoided increased with the introduction of RIRS at an earlier time (first line, second line, third line, fourth line: 18640 USD, 10376 USD, 4294 USD, 3377 USD, respectively). Probabilistic modeling also indicated that the introduction of RIRS as the first line of treatment was least likely to be cost-effective, when compared to other options of introducing RIRS as the second, third, or fourth line of treatment. @*Conclusion@#Performing RIRS as early as possible

Differential Gene Expression in GPR40-Overexpressing Pancreatic beta-cells Treated with Linoleic Acid

"G protein-coupled receptor 40" (GPR40), a receptor for long-chain fatty acids, mediates the stimulation of glucose-induced insulin secretion. We examined the profiles of differential gene expression in GPR40-activated cells treated with linoleic acid, and finally predicted the integral pathways of the cellular mechanism of GPR40-mediated insulinotropic effects. After constructing a GPR40-overexpressing stable cell line (RIN-40) from the rat pancreatic beta-cell line RIN-5f, we determined the gene expression profiles of RIN-5f and RIN-40. In total, 1004 genes, the expression of which was altered at least twofold, were selected in RIN-5f versus RIN-40. Moreover, the differential genetic profiles were investigated in RIN-40 cells treated with 30 microM linoleic acid, which resulted in selection of 93 genes in RIN-40 versus RIN-40 treated with linoleic acid. Based on the Kyoto Encyclopedia of Genes and Genomes Pathway (KEGG, http://www.genome.jp/kegg/), sets of genes induced differentially by treatment with linoleic acid in RIN-40 cells were found to be related to mitogen-activated protein (MAP) kinase- and neuroactive ligand-receptor interaction pathways. A gene ontology (GO) study revealed that more than 30% of the genes were associated with signal transduction and cell proliferation. Thus, this study elucidated a gene expression pattern relevant to the signal pathways that are regulated by GPR40 activation during the acute period. Together, these findings increase our mechanistic understanding of endogenous molecules associated with GPR40 function, and provide information useful for identification of a target for the management of type 2 diabetes mellitus.

Polymorphisms of BDNF Gene and Autism Spectrum Disorders: Family Based Association Study with Korean Trios

OBJECTIVE: Autism spectrum disorders (ASDs) are a group of early childhood-onset neurodevelopmental disorders characterized by deficits in social interaction and language skills, and repetitive behaviors. Brain-derived neurotrophic factor (BDNF) plays a critical role in the differentiation of normal neuronal cells during embryonic and postnatal neuronal development through its neurotrophic effects. METHODS: In this study, we performed a family-based association test (FBAT) between single nucleotide polymorphisms (SNPs; rs6265, rs11030101, rs7103411, and rs7103873) or haplotypes in the BDNF gene and affection status or several quantitative traits characterized by ADI-R with151 Korean trios, including a child diagnosed as ASDs. RESULTS: While no significant association was found between SNPs or haplotypes and the ASDs disease status, a quantitative transmission disequilibrium test (QTDT) by using quantitative traits identified associations of the SNPs (rs6265 and rs11030101) with a domain score for "Restricted, Repetitive and Stereotyped patterns of behavior" (C domain), especially at the subdomain scores for "encompassing preoccupation or circumscribed pattern of interest" (C1) (rs6265A allele, dominant model, p-value=0.019; rs11030101 A allele, additive model, p-value=0.015) and "preoccupations with part of objects or non-functional elements of material" (C4) (rs11030101 A allele, additive model, p-value=0.015) within the ADI-R diagnostic algorithm. In addition, significant associations were also identified between the haplotypes and these quantitative traits (C1, p-value=0.016; C4, p-value=0.012). CONCLUSION: We conclude that BDNF gene polymorphisms have a possible role in the pathogenesis of ASDs.

A comparative study among normal saline, water soluble gel and 2% lidocaine gel as a SLIPA lubricant / 대한마취과학회지

BACKGROUND: This study was designed to find appropriate lubricant for streamed lined liner of pharyngeal airway(TM) (SLIPA(TM)). We evaluated the incidence of sore throat, nausea, vomiting, hoarseness, paresthesia and blood stain after using saline, water soluble gel and 2% lidocaine gel as a SLIPA(TM) lublicant. METHODS: One hundred twenty three patients scheduled for minor surgery to whom the SLIPA(TM) was considered suitable were randomly allocated to one of three groups which receive normal saline, water soluble gel or 2% lidocaine gel as a SLIPA(TM) lublicant. Patients were interviewed at recovery room, post operation 6-12 hour, post operation 18-24 hour about sore throat and other complications. RESULTS: There were no statistical difference in sore throat and blood stain among three groups. Also there were no statistical differences in hoarseness, nausea, vomiting. The incidence of paresthesia in 2% lidocaine gel group was significantly higher than those of the other two groups immediately after operation, but it was resolved after leaving the recovery room. CONCLUSIONS: Our results suggest that normal saline, water soluble gel and 2% lidocaine gel are all available as a SLIPA(TM) lubricant. Size of SLIPA(TM), insertion technique and difficulty of insertion should be further investigated as the main causes of a sore throat and other complications which can occur after the insertion of SLIPA(TM).

5,8-Dimethoxy-2-Nonylamino-Naphthalene-1,4-Dione Inhibits Vascular Smooth Muscle Cell Proliferation by Blocking Autophosphorylation of PDGF-Receptor beta

As the abnormal proliferation of vascular smooth muscle cells (VSMCs) plays a critical role in the development of atherosclerosis and vascular restenosis, a candidate drug with antiproliferative properties is needed. We investigated the antiproliferative action and underlying mechanism of a newly synthesized naphthoquinone derivative, 5,8-dimethoxy-2-nonylamino-naphthalene-1,4-dione (2-nonylamino-DMNQ), using VSMCs treated with platelet-derived growth factor (PDGF). 2-Nonylamino-DMNQ inhibited proliferation and cell number of VSMCs induced by PDGF, but not epidermal growth factor (EGF), in a concentration-dependent manner without any cytotoxicity. This derivative suppressed PDGF-induced [3H]-thymidine incorporation, cell cycle progression from G0/G1 to S phase, and the phosphorylation of phosphor-retinoblastoma protein (pRb) as well as the expression of cyclin E/D, cyclin-dependent kinase (CDK) 2/4, and proliferating cell nuclear antigen (PCNA). Importantly, 2-nonylamino-DMNQ inhibited the phosphorylation of PDGF receptorbeta(PDGF-Rbeta) enhanced by PDGF at Tyr579, Tyr716, Tyr751, and Tyr1021 residues. Subsequently, 2-nonylamino-DMNQ inhibited PDGF-induced phosphorylation of STAT3, ERK1/2, Akt, and PLCgamma1. Therefore, our results indicate that 2-nonylamino-DMNQ inhibits PDGF-induced VSMC proliferation by blocking PDGF-Rbeta autophosphorylation, and subsequently PDGF-Rbeta-mediated downstream signaling pathways.

Association of the Catechol-o-Methyltransferase Gene Polymorphisms with Korean Autism Spectrum Disorders

This study evaluated the family-based genetic association between autism spectrum disorders (ASDs) and 5 single-nucleotide polymorphisms (SNPs) in the catechol-o-methyltransferase gene (COMT), which was found among 151 Korean ASDs family trios (dominant model Z = 2.598, P = 0.009, P(FDR) = 0.045). We found a statistically significant allele transmission or association in terms of the rs6269 SNP in the ASDs trios. Moreover, in the haplotype analysis, the haplotypes with rs6269 demonstrated significant evidence of an association with ASDs (additive model rs6269-rs4818-rs4680-rs769224 haplotype P = 0.004, P(FDR) = 0.040). Thus, an association may exist between the variants of the COMT gene and the occurrence of ASDs in Koreans.

The causes of difficult tracheal intubation and preoperative assessments in different age groups / 대한마취과학회지

BACKGROUND: We studied the differences in airway assessment factors among old, middle, and young age groups, and evaluated the frequency and causes of difficult intubation among these groups. METHODS: Patients were divided into young ( or = 60 yr, n = 89) group. Airway assessment factors such as head and neck movement, thyromental distance, interincisor gap, dentition, Mallampati score, and Arne score were assessed. After muscle relaxation, cervical joint rigidity and Cormack-Lehane (C-L) grade were assessed. The differences in airway assessment factors between difficult (C-L grade 3, 4) and easy (C-L grade 1, 2) intubation were then examined. Logistic regression analysis was also carried out to identify the extent to which airway assessment factors reflected difficult intubation. RESULTS: As aging, head and neck movement, thyromental distance, and interincisor gap decreased, the grade of dentition, Mallampati score, cervical joint rigidity and the ratio of Arne score > 11 increased. In the old and middle group, the incidence of difficult intubation was increased compared with the young group. Dentition in the young group, Mallampati score and interinsisor gap in the middle group and Mallampati score, cervical joint rigidity in the old group respectively predicted difficult intubation. CONCLUSIONS: Compared to young individuals, middle-aged or elderly adults are likely to experience more difficulty in endotracheal intubation and its predictive factors could vary by age group.

CsA Affects the Rat Submandibular Glands via Regulating the CypA Expression

The effects of the an immunosuppressive drug cyclosporine A (CsA), on the salivary gland are largely unknown, even though clinical trials for the stimulation of salivation using CsA have been attempted. Cyclophilin A (CypA) is known to be a binding protein for CsA. CypA has cell proliferation and tissue matrix change activities. In our present study, the presence of CypA in the gland and effects of CsA on CypA expression were investigated by immunohistochemistry, immunoblotting and RT-PCR analyses. CypA was immunohistochemically detected in various kinds of ducts in the submandibular glands of Sprague Dawley rats. The CypA mRNA level was highest at postnatal day 1 and gradually decreased in a time-dependent manner up to adulthood. The expression of CypA increased after a 10 day subcutaneous administration of CsA in postnatal day 1 rats. Surgical sections of the chorda-lingual nerve with impaired salivation showed no changes in CypA expression. A cell proliferation assay using PCNA anti-serum showed increased cell division following CsA treatment. These results suggest that CsA and CypA may act on ductal cells to regulate saliva composition rather than salivation levels.

Expression of Deleted in Colorectal Cancer in the Rat Trigeminal Ganglia

The deleted in colorectal cancer (DCC) protein mediates attractant responses to netrin during axonogenesis. In the rat trigeminal ganglia (TG), axons must extend toward and grow into the trigeminal nerve to innervate target tissues such as dental pulp. Our present study aimed to investigate the expression of DCC in the TG. Four developmental timepoints were assessed in the experiments: postnatal days 0, 7 and 10 and adulthood. RT-PCR and western blotting revealed that the expression of DCC mRNA and protein does not significantly change throughout development. Immunohistochemistry demonstrated that DCC expression in the TG was detectable in the perikarya region of the ganglion cells during development. Nerve injury at 3 and 5 days after the mandibular nerve had been cut did not induce altered expression of DCC mRNA in the TG. Moreover, DCC-positive cell bodies also showed similar immunoreactive patterns after a nerve cut injury. The results of this study suggest that DCC constitutively participates in an axonogenesis attractant in ways other than expression regulation.

Effect of an abdominal obesity management program on dietary intake, stress index, and waist to hip ratio in abdominally obese women: Focus on comparison of the WHR decrease and WHR increase groups

This study was conducted to evaluate the effects of an abdominal obesity management program on dietary intake, stress index, and waist to hip ratio (WHR) in abdominally obese women. The subjects were 195 adult abdominally obese women (WHR > or = 0.80) who had been participating in a nutrition education (total of nine times) and dietary habits and life style modification programs (total of six times) for 12 weeks. The abdominal obesity management program focused on the nutrition provided by breakfast, lunch, and dinner, proper dietary habits, and practices to improve life style. The subjects were divided into a WHR decrease group and a WHR increase group according to changes in the WHR. Daily nutrient intake was assessed with a 3-day food record, body measurements and blood vessel age, stress index, and a health index that were measured at baseline and after 12 weeks. After the intervention, weight, waist circumference, hip circumference, WHR, and body mass index (BMI) decreased significantly in the WHR decrease group. Energy intake increased from 1486.2 kcal to 1541.4 kcal with a significant improvement in nutrient density for animal protein, total fat, animal fat, fiber, calcium, phosphorus, zinc, vitamin B6, vitamin C, vitamin E, and saturated fatty acids in the WHR decrease group. Additionally, dietary diversity increased significantly in the WHR decrease group compared to that in the WHR increase group. The WHR decrease group showed a significant improvement in the stress and health indices. Changes in WHR were correlated with changes in nutrient intake (animal protein, total fat, animal fat, plant fat, fiber, calcium, iron, potassium, vitamin A, vitamin B2, vitamin B6, vitamin C, and folate) and medical index profiles (stress and indices) adjusted for age, birth status, baseline BMI, and baseline WHR. These results show that an abdominal obesity management program was effective not only for reducing the WHR but also to improve dietary intake and the stress index in abdominally obese women.

Differential Expression of Osteonectin in the Rat Developing Molars

Tooth development involves bud, cap, bell and hard tissue formation stages, each of which is tightly controlled by regulatory molecules. The aim of this study was to identify genes that are differentially expressed during dental hard tissue differentiation. Sprague-Dawley rats at postnatal days 3, 6 and 9 were used in the analysis. Differential display RT-PCR (DD-PCR) was used to screen differentially expressed genes between the 2nd (root formation stage, during mineralization) and 3rd (cap stage, before mineralization) molar germs at postnatal day 9. The DNA detected in the 2nd molar germs showed homology to osteonectin only (GenBank accession no. NM_012656.1). The level of osteonectin mRNA expression was much higher in the 2nd molar germs than in the 3rd molar germs and was found to increase in a time-dependent manner from the early bell stage to the root formation stage in the 2nd molar germs. The pattern of osteonectin protein expression was consistent with these RT-PCR results. Osteonectin protein was found by immunofluorescent analysis to localize in odontoblasts and preodontoblasts rather than the dentin matrix itself. Further studies are needed to validate the involvement of osteonectin in mineralization and root formation.

Efficacy of dexamethasone added to ramosetron for preventing postoperative nausea and vomiting in highly susceptible patients following spine surgery / 대한마취과학회지

BACKGROUND: Opioid-based patient controlled analgesia (PCA) provides adequate pain control following spinal surgeries at the expense of increased risk of postoperative nausea and vomiting (PONV). We evaluated the efficacy of dexamethasone added to ramosetron, which is a newly developed five-hydroxytryptamine receptor 3 antagonist with a higher receptor affinity and longer action duration compared to its congeners, on preventing PONV in highly susceptible patients receiving opioid-based IV PCA after spinal surgery. METHODS: One hundred nonsmoking female patients undergoing spinal surgery were randomly allocated to either a ramosetron group (group R) or a ramosetron plus dexamethasone group (group RD)., Normal saline (1 ml) or 5 mg of dexamethasone was injected before anesthetic induction, while at the end of the surgery, ramosetron (0.3 mg) was administered to all patients and fentanyl-based IV PCA was continued for 48 hrs. The incidence and severity of PONV, pain score and the amount of rescue antiemetics were assessed for 48 hours after surgery. RESULTS: The number of patients with moderate to severe nausea (20 vs. 10, P = 0.029), and overall incidence of vomiting (13 vs. 5, P = 0.037) were significantly lower in the group RD than in the group R, respectively. Rescue antiemetic was used less in the RD group without significance. CONCLUSIONS: Combination of ramosetron and dexamethasone significantly reduced the incidence of moderate to severe nausea and vomiting compared to ramosetron alone in highly susceptible patients receiving opioid-based IV PCA after surgery.

A comparison of hemodynamic changes after endotracheal intubation by the Optiscope(TM) and the conventional laryngoscope / 대한마취과학회지

BACKGROUND: Optiscope(TM) is a newly developed video stylet device. This study evaluated and compared the hemodynamic changes observed after endotracheal intubation with video stylet and after conventional laryngoscopic endotracheal intubation. METHODS: Fifty-eight adult patients with American Society of Anesthesiologists (ASA) physical status class 1 or 2, undergoing general anesthesia, were randomized into two groups: one group of patients were intubated using video stylet (n = 29) and the other group were intubated using direct laryngoscope (n = 29). Systolic blood pressure (SBP), mean arterial pressure (MAP), diastolic blood pressure (DBP), heart rate (HR), POGO (percentage of glottic opening) score, time for intubation and degree of sore throat were recorded. RESULTS: There were no significant differences in the SBP, MAP, DBP, HR, and the sore throat incidence between the two groups. Optiscope(TM) produced better POGO scores, but time for intubation was longer than with conventional laryngoscope. CONCLUSIONS: Optiscope(TM), when compared with conventional laryngoscope for intubation, does not modify the hemodynamic response, but it provides a better view of the vocal cords.

Microtensile bond strength of resin inlay bonded to dentin treated with various temporary filling materials / 대한치과보존학회지

OBJECTIVES: This study was aimed to determine the effects of temporary sealing materials on microtensile bond strength between resin-coated dentin and resin inlay and to compare the bonding effectiveness of delayed dentin sealing and that of immediate dentin sealing. MATERIALS AND METHODS: The teeth were divided into 4 groups: group 1, specimens were prepared using delayed dentin sealing after temporary sealing with zinc oxide eugenol (ZOE); group 2, specimens were prepared using immediate dentin sealing and ZOE sealing; group 3, specimens were prepared using immediate dentin sealing and Dycal (Dentsply) sealing; group 4, specimens were prepared using immediately sealed, and then temporarily sealed with a resin-based temporary sealing material. After removing the temporary sealing material, we applied resin adhesive and light-cured. Then the resin inlays were applied and bonded to the cavity with a resin-based cement. The microtensile bond strength of the sectioned specimens were measured with a micro-tensile tester (Bisco Inc.). Significance between the specimen groups were tested by means of one-way ANOVA and multiple Duncan's test. RESULTS: Group 1 showed the lowest bond strength, and group 4 showed the highest bond strength (p < 0.01). When temporary sealing was performed with ZOE, immediate dentin sealing showed a higher bonding strength than delayed dentin sealing (p < 0.01). CONCLUSIONS: Based on these results, immediate dentin sealing is more recommended than delayed dentin sealing in bonding a resin inlay to dentin. Also, resin-based temporary sealing materials have shown the best result.

The Benefit of Braille for Successful Weaning off Mechanical Ventilation in Congenital Blindness and Hearing Impairment: A Case Report / 대한구급학회지

To achieve adequate depth of sedation and assess the severity of pain in mechanically ventilated patients in the intensive care unit, appropriate communication with the patients is necessary. Communication is also important for successful weaning from the mechanical ventilator as well as weaning predictors, such as respiratory muscle capacity. Here, we present a case report of a 39-year-old man with congenial blindness and hearing impairment who successfully weaned off ventilator support using Braille to communicate under an optimal level of sedation and analgesia after septic shock management.

MMP-2 and MMP-9 are Differentially Involved in Molar Growth

Matrix metalloproteinases (MMPs) have been implicated in tissue development and re-modeling. Dynamic morphological changes of tooth germs reflect involvement of these enzymes during odontogenesis. The present study was performed to investigate expression and localization of MMP-2 and MMP-9, which have been known to have type IV collagenase activities, in rat tooth germs at different developmental stages. MMP-2 expression was increased gradually in the tooth germs from cap to crown staged germs at both transcription and translation levels. The localization of this molecule was detected in secretory ameloblasts and preameloblasts. The strong immunoreactivities were occasionally seen along the basement membrane between ameloblasts (or preameloblasts) and odontoblasts (preodontoblasts). However, weak reactivity was detected in odontoblasts and reduced enamel epithelium. The level of MMP-9 expression in the tooth germs was higher in cap stage than in crown staged germs at both transcription and translation levels. They were strongly expressed in both ameloblasts and odontoblasts. Even though reduced enamel epithelium after enamel formation and inner enamel epithelium at the cap stage exhibited weak reactivity, strong reactivity was detected in dental follicles and perifollicular tissues surrounding cap staged germs. These results suggested that MMP-2 may involve degradation of the basement membrane during hard tissue formation, whereas MMP-9 might be involved in remodeling of follicular tissues.

Genome-Wide Association Scan of Korean Autism Spectrum Disorders with Language Delay: A Preliminary Study

OBJECTIVE: Communication problems are a prevalent symptom of autism spectrum disorders (ASDs), which have a genetic background. Although several genome-wide studies on ASD have suggested a number of candidate genes, few studies have reported the association or linkage of specific endophenotypes to ASDs. METHODS: Forty-two Korean ASD patients who showed a language delay were enrolled in this study with their parents. We performed a genome-wide scan by using the Affymetrix SNP Array 5.0 platform to identify candidate genes responsible for language delay in ASDs. RESULTS: We detected candidate single-nucleotide polymorphisms (SNPs) in chromosome 11, rs11212733 (p-value=9.76x10(-6)) and rs7125479 (p-value=1.48x10(-4)), as a marker of language delay in ASD using the transmission disequilibrium test and multifactor dimensionality reduction test. CONCLUSION: Although our results suggest that several SNPs are associated with language delay in ASD, rs11212733 we were not able to observe any significant results after correction of multiple comparisons. This may imply that more samples may be required to identify genes associated with language delay in ASD.

Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis

Although the genetic component in the etiology of rheumatoid arthritis (RA) has been consistently suggested, many novel genetic loci remain to uncover. To identify RA risk loci, we performed a genome-wide association study (GWAS) with 100 RA cases and 600 controls using Affymetrix SNP array 5.0. The candidate risk locus (APOM gene) was re-sequenced to discover novel promoter and coding variants in a group of the subjects. Replication was performed with the independent case-control set comprising of 578 RAs and 711 controls. Through GWAS, we identified a novel SNP associated with RA at the APOM gene in the MHC class III region on 6p21.33 (rs805297, odds ratio (OR) = 2.28, P = 5.20 x 10(-7)). Three more polymorphisms were identified at the promoter region of the APOM by the re-sequencing. For the replication, we genotyped the four SNP loci in the independent case-control set. The association of rs805297 identified by GWAS was successfully replicated (OR = 1.40, P = 6.65 x 10(-5)). The association became more significant in the combined analysis of discovery and replication sets (OR = 1.56, P = 2.73 +/- 10(-10)). The individuals with the rs805297 risk allele (A) at the promoter region showed a significantly lower level of APOM expression compared with those with the protective allele (C) homozygote. In the logistic regressions by the phenotype status, the homozygote risk genotype (A/A) consistently showed higher ORs than the heterozygote one (A/C) for the phenotype-positive RAs. These results indicate that APOM promoter polymorphisms are significantly associated with the susceptibility to RA.

No Association between Copy Number Variation of the TCRB Gene and the Risk of Autism Spectrum Disorder in the Korean Population

Although autism spectrum disorder (ASD) has been thought to have a substantial genetic background, major contributing genes have yet to be identified or successfully replicated. Immunological dysfunction has been suggested to be associated with ASD, and T cell-mediated immunity was considered important for the development of ASD. In this study, we analyzed 163 ASD subjects and 97 normal controls by genomic quantitative PCR to evaluate the association between the copy number variation of the 7q34 locus, harboring the TCRB gene, and ASDs. As a result, there was no significant difference of the frequency distribution of TCRB copy numbers between ASD cases and normal controls. TCRB gene copy numbers ranged from 0 to 5 copies, and the frequency distribution of each copy number was similar between the two groups. The proportion of the individuals with 2 copies of TCRB was 11.7% (19/163) in ASD cases and 12.1% (11/91) in the control group (p=0.68). After the effects of sex were adjusted by logistic regression, ORs for individuals with 2 copies showed no significant difference compared with the diploid copy number as reference (n=2). Although we could not see the positive association, our results will be valuable information for mining ASD-associated genes and for exploring the role of T cell immunity further in the pathogenesis of ASD.