[Facial soft tissue changes after full-arch implant-supported fixed prostheses restoration in patients with edentulous maxilla].

PURPOSE: To investigate the changes of nasolabial soft tissues before and after full-arch implant supported fixed restoration in maxillary edentulous patients and the influencing factors of the changes. METHODS: Fifty patients who underwent full-arch implant fixed restoration in the Department of Second Dental Center of Shanghai Ninth People's Hospital from January 2016 to July 2023 were selected. Patient's medical history, CBCT, and three-dimensional facial scan data were collected before and after restoration. Paired t test or Wilcoxon signed-rank test were used to compare the changes in soft tissues before and after restoration. The correlation between changes and patient's basic information, implant protocol and residual bone parameters were analyzed using bivariate correlation analysis. Akaike information criterion was used to select the multivariate linear regression model of each soft tissue index change. RESULTS: After implant fixed restoration, the upper lip height (sn-sto), the upper vermillion height (ls-sto), and the upper vermilion area (UVA) significantly increased (P＜0.01), while the distance from ls to the E-line (ls-E) significantly decreased (P＜0.01), the nasolabial angle (∠cm-sn-ls) significantly decreased (P＜0.01), and the cutaneous upper lip height(sn-ls) did not change significantly(P＞0.05). Except for sn-sto and sn-ls, the remaining soft tissue changes were positively correlated with age (P＜0.01). Other residual bone parameters, implant protocol, and gender were not significantly related to each soft tissue change. Multivariate stepwise regression analysis showed that each soft tissue change was broadly related to age and preoperative soft tissue condition, and partially related to bone morphology. CONCLUSIONS: The nasolabial soft tissues of maxillary edentulous patients change significantly after implant fixed restoration, mainly the expansion and protrusion of the red part of the lip. The changes in facial soft tissues are primarily related to the patient's age and pre-existing soft tissue condition, with older patients and those with more atrophic original soft tissue morphology observing more apparent improvements in fullness. The change in lip prominence is also related to the residual bone shape.

Determination of cotinine and 3-hydroxynicotinine in human serum by liquid chromatography-tandem mass spectrometry and its application.

In this study, we developed a method for determining cotinine and 3-hydroxycotinine in human serum and established a methodology for an in-depth study of tobacco exposure and health. After the proteins in the human serum samples were precipitated with acetonitrile, they were separated on a ZORBAX SB-Phenyl column with a mobile phase of methanol encompassing 0.3% formic acid-water encompassing 0.15% formic acid. The measurement was performed on an API5500 triple quadrupole mass spectrometer in the multiple reaction monitoring mode. Cotinine, 3-hydroxycotinine, and cotinine-d3 isotope internal standards were held for 2.56 minutes, 1.58 minutes, and 2.56 minutes, respectively. In serum, the linear range was 0.05 to 500 ng·mL-1 for cotinine and 0.50 to 1250 ng·mL-1 for 3-hydroxycotinine. The lower limit of quantification (LLOQ) was 0.05 ng·mL-1 and 0.5 ng·mL-1 for cotinine and 3-hydroxycotinine, respectively. The intra-day and inter-day relative standard deviations were <11%, and the relative errors were within ±â€…7%. Moreover, the mean extraction recoveries of cotinine and 3-hydroxycotinine were 98.54% and 100.24%, respectively. This method is suitable for the rapid determination of cotinine and 3-hydroxycotinine in human serum because of its rapidity, sensitivity, strong specificity, and high reproducibility. The detection of cotinine levels in human serum allows for the identification of the cutoff value, providing a basis for differentiation between smoking and nonsmoking populations.

[Effect of EPA on inflammatory response of human periodontal ligament fibroblasts induced by P. gingivalis LPS].

PURPOSE: To observe the effect of eicosapentaenoc acid (EPA) on the expression of inflammatory factors in human periodontal ligament fibroblasts (hPDLCs) induced by using lipopolysaccharides (LPS) of Porphyromonas gingivalis (P. gingivalis). METHODS: hPDLCs were cultured by using tissue block method, and the effects of different concentrations of EPA on the activity of hPDLCs cells were observed by MTT method. According to MTT results, the appropriate concentration of EPA was selected, and the expression of interleukin-6(IL-6), IL-8 and IL-1ß in hPDLCs induced by P.gingivalis LPS was detected by real time PCR and ELISA. The data were evaluated by SPSS 10.0 software package. RESULTS: 25-100 µmol/L EPA had no effect on the activity of hPDLCs cells, but could inhibit the expression of IL-6, IL-8 and IL-1ß induced by P. gingivalis LPS in a dose-dependent manner. CONCLUSIONS: EPA can inhibit the expression of inflammatory factors induced by P. gingivalis LPS without affecting cell activity, indicating that EPA has the possibility of anti-inflammatory treatment of periodontitis.

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is mainly caused by ectodysplasin A (EDA) gene mutation. Fetus with genetic deficiency of EDA can be prenatally corrected. This study aimed at revealing the pathogenesis of two HED families and making a prenatal diagnosis for one pregnant female carrier. DESIGNS: Genomic DNA was extracted from two HED patients and sequenced using whole exome sequencing (WES). The detected mutations were confirmed in patients and family members using Sanger sequencing. The expression of soluble ectodysplasin A1 (EDA1) protein was studied by western blot. The transcriptional activity of NF-κB pathway was tested by dual luciferase assay. The genomic DNA of fetus was extracted from shed chorion cells and EDA gene was screened through Sanger sequencing. RESULTS: We identified two novel EDA mutations: c.1136T>C (p.Phe379Ser) and c.[866G>C;868A>T] (p.[Arg289Pro;Ser290Cys]). Further examinations revealed that these two mutated EDA1 proteins showed completely impaired solubility, and the transcriptional NF-κB activation induced by these missense mutant-type EDA1 proteins was significantly reduced compared with wild-type EDA1. Furthermore, the analysis of amniotic fluid samples from a pregnant heterozygote indicated that the fetus was a c.1136T>C mutation female carrier. CONCLUSIONS: This study extended the mutation spectrum of X-linked hypohidrotic ectodermal dysplasia (XLHED) and applied prenatal diagnosis for the pregnant carrier, which can be helpful in genetic counseling, prenatal diagnosis, and intervention for the XLHED family.

[The feasibility of zygomatic implant quad approach in patients with tooth agenesis: a radiographic analysis].

PURPOSE: The aim of this study was to analyze the feasibility of zygomatic implant quad approach in patients with tooth agenesis. METHODS: Based on the data from cone-beam CT (CBCT), twenty one patients with tooth agenesis who were planned to receive zygomatic implant quad approach were enrolled. The radiographic bone-to-implant contact (rBIC) of each zygomatic implant placed virtually in patients' zygomatic segment was measured. SPSS 25.0 software package was used for statistical analysis. RESULTS: Twenty patients' plans of zygomatic implant quad approach were completed (12 men and 8 women). A total of 80 zygomatic implants were placed virtually and the average rBIC of zygomatic segment was (13.85±3.29) mm. The rBIC values of 40 mesial zygomatic implants and 40 distal zygomatic implants were (13.80±3.74) mm and (13.90±2.81) mm, respectively(P>0.05). The average rBIC in male of 24 mesial zygomatic implants and 24 distal zygomatic implants were(14.21±4.08) mm and(14.31±3.18) mm, respectively, slightly higher than those in female of 16 mesial zygomatic implants and 16 distal zygomatic implants, which were (13.18±3.18) mm and (13.29±2.10) mm, respectively. There was no significant difference between the two groups (P>0.05). The average rBIC of 15 extra sinus zygomatic implants, 46 against sinus lateral wall zygomatic implants and 19 intra-sinus zygomatic implants were (16.27±2.95), (13.87±3.10) and (11.88±2.78) mm, respectively. There was significant difference between the extra sinus zygomatic implants and the other two(P<0.05). CONCLUSIONS: It is feasible to plan zygomatic implant quad approach for patients with tooth agenesis. Zygomatic implants can get adequate rBIC in zygomatic segment and to provide sufficient support and retention of the superstructure.

Healthcare Costs Associated with Complications in Patients with Type 2 Diabetes among 1.85 Million Adults in Beijing, China.

We aimed to provide reliable regression estimates of expenditures associated with various complications in type 2 diabetics in China. In total, 1,859,039 type 2 diabetes patients with complications were obtained from the Beijing Medical Claim Data for Employees database from 2008 to 2016. We estimated costs for complications using a generalized estimating equation model adjusted for age, sex, and the incidence of various complications. The average total cost for diabetic patients with complications was 17.12 thousand RMB. Prescribed drugs accounted for 63.4% of costs. We observed a significant increase in costs in the first year after the onset of complications. Compared with costs before the incidence of complications, the additional costs per person in the first year and >1 year after the event would be 10,631.16 RMB and 1150.71 RMB for cardiovascular disease, 1017.62 RMB and 653.82 RMB for cerebrovascular disease, and 301.14 RMB and 624.00 RMB for kidney disease, respectively. The estimated coefficients for outpatient visits were relatively lower than those of inpatient visits. Complications in diabetics exert a significant impact on total healthcare costs in the first year of their onset and in subsequent years. Our estimates may assist policymakers in quantifying the economic burden of diabetes complications.

Diffuse-type tenosynovial giant cell tumor of the temporomandibular joint with skull base invasion: a report of 22 cases with literature review.

OBJECTIVES: The aim of this study was to retrospectively analyze the clinical characteristics, surgical treatment, and prognosis of patients with diffuse-type tenosynovial giant cell tumor (D-TGCT) involving the temporomandibular joint (TMJ) and the skull base. STUDY DESIGN: A retrospective study was performed in patients with D-TGCT involving the TMJ and the skull base at our institute from April 2009 to August 2018. Data on clinical characteristics, surgical treatment, and prognosis were collected and analyzed. A literature search on D-TGCT involving the TMJ was conducted and the data analyzed. RESULTS: The study included 22 patients (14 males and 8 females), with an average age of 44 years. The main symptoms were headache and hearing limitation, accompanied by a swelling in the TMJ area. Magnetic resonance imaging (MRI) showed low signals on T1- and T2-weighted images. All lesions were completely removed. Temporal bone flap, titanium mesh, and temporal muscle flap were used for reconstruction. The recurrence rate was 4.5%. In the literature, 115 cases were reported. Surgery alone was performed in 88 cases; postoperative radiotherapy was performed in 19 cases; the tumor recurrence rates were 9.1% and 15.8% for the 2 procedures, respectively. All patients were alive at the end of the follow-up period. CONCLUSIONS: D-TGCT involving the TMJ and the skull base is a locally aggressive but benign lesion necessitating complete resection and has a good prognosis.

[Mutation screening and functional analysis for 8 patients with ectodermal dysplasia].

PURPOSE: To identify the potentially pathogenic mutations in patients with ectodermal dysplasia (ED) and to investigate the pathogenicity of mutations by functional studies. METHODS: Eight Chinese ED patients were included in this study. Peripheral venous blood was taken from the patients and DNA was extracted. Whole-exome sequencing (WES) was performed using DNA samples. After quality control of the sequencing data, the potentially pathogenic mutations were screened. The pathogenicity of the mutations was predicted in silico. Immunofluorescence study and dual luciferase assays were performed to investigate the pathogenicity of the mutations. RESULTS: The effective rates of all sequencing samples were above 97.5% and the error rates were less than 0.03%. The proportions of Q20 were more than 97.0%. The average sequencing depths of the target region were more than 90×. The sequencing data were acceptable for further analysis. After data screening, three missense mutations of EDA were detected, including c.959A>G, c.1073A>G and c.1001G>A. The allele frequency was low in population database for all three mutations and in silico analysis indicated all three mutations were disease-causing. Immunofluorescence analysis showed that p65 protein nuclear translocation was compromised by EDA mutations, dual luciferase assays also showed that the activation of NF-κB pathway was decreased by EDA mutations. CONCLUSIONS: This study identified EDA mutations in Chinese ED patients and further verified the pathogenicity of the mutations by functional studies, contributing to the understanding of the pathogenesis of ED.

Treatment of severe periodontic-endodontic combined lesions with minocycline hydrochloride ointment combined with mineral trioxide aggregate.

Periodontic-endodontic combined lesions affect the quality of life of patients. The present study aimed to explore a way to achieve maximal effect in treating periodontic-endodontic combined lesions by using a combination of minocycline hydrochloride ointment (MHO) and mineral trioxide aggregate (MTA). In the present study, 294 patients were randomly divided into four groups: Control group, MHO group, MTA group and combination group. Endodontic and periodontic therapy was applied simultaneously on the anterior and posterior teeth of patients, and patient characteristics, gingival index (GI) and probing depth (PD) were noted when the patients were treated with the different strategies. Reexamination was performed 4 weeks after treatment and follow-up was performed 2 years later. The present study demonstrated that medical history, root filling and periapical condition within the patients were deemed as key factors in determining the success of treatment of periodontic-endodontic combined lesions. The effect of the combination treatment significantly exceeded that of either treatment alone (P<0.05). In addition, the teeth were significantly improved for patients with pathological types I, II and III in the combination group compared with either treatment group alone (P<0.05). Furthermore, compared with the MTA and MHO groups alone, the combination group demonstrated a significant decrease in PD and GI in severe periodontic-endodontic combined lesions. In conclusion, the present findings implied that combination treatment is significantly superior to single treatments applied to patients with severe periodontic-endodontic combined lesions.

[Perioperative nursing of zygomatic implant surgery for patients with severe periodontitis].

PURPOSE: To analyze the perioperative nursing characteristics about severe periodontitis patients with immediate zygomatic implantation, and to summarize the clinical nursing experience. METHODS: Preoperatively, all patients received psychological counseling, oral hygiene instruction, and periodontal care with necessary means after physical examination. Cooperative procedures were preformed between nurses and surgeon during operation. After operation, nursing interventions were given including wound care, pain control, ice compression, appropriate diet and close follow-up. RESULTS: All patients were successfully operated without serious complications. Favorable implant primary stability was achieved in each patient. No patient developed wound dehiscence, one patient had wound pain and one patient had minor facial swelling. Temporary restoration was conducted to restore occlusal relationship and masticatory function within 48 hours. CONCLUSIONS: Comprehensive nursing intervention during perioperative period is necessary and deserves to be applied for patients with severe periodontitis who are treated with immediate zygomatic implant surgery.

Measurement of the zygomatic region for the optimal placement of quad zygomatic implants.

BACKGROUND: The zygomatic implant is suggested to be placed in zygomatic areas with the largest thickness, but regions to obtain the largest bone-to-implant contact (BIC) were unknown. PURPOSE: To identify the zygomatic regions for placing quad zygomatic implants that obtain the largest BIC. MATERIALS AND METHODS: The zygomatic thicknesses of 300 zygomata were measured at total 12 points on the superior, middle, and inferior areas on the 3-dimensional reconstruction images. In 50 edentulous maxillae, the zygomatic BICs of virtually placed implants were measured and the incidence of the intrusion into the infratemporal fossa calculated at each point. RESULTS: The largest thickness in the superior, middle, and inferior regions were at Point A1 (8.01 ± 2.10 mm), Point B1 (7.02 ± 1.73 mm), and Point C0 (6.65 ± 1.66 mm), respectively. The virtually placed implants at Point A3 (16.70 ± 4.18 mm) and Point B1 (12.07 ± 3.84 mm) had the highest BICs while retaining the minimum incidence of the intrusion complications. CONCLUSION: To obtain the largest BICs and avoid the intrusion complications, results suggested that the postero-superior region (Point A3 ) and the center of zygoma (Point B1 ) were the optimal places for the placement of quad zygomatic implants.

[Morphometric analysis of maxillofacial bone in 48 patients with ectodermal dysplasia].

PURPOSE: The study was performed to analyze the maxillofacial morphology of 48 patients with ectodermal dysplasia (ED) and to provide some reference for implant treatment of ED patients. METHODS: The study collected the clinical data and lateral cephalometric radiographs of 48 patients with ED treated between June 2013 and October 2016. The patients were grouped as follows: group 1, 23 patients, at least with two kinds of ectodermal disorder, besides hypodontia; group 2, 25 patients, only with one kind of ectodermal disorder, besides hypodontia. The number of missing teeth and maxillofacial cephalometric parameters were compared between 2 groups. SPSS 17.0 software package was performed for statistical analysis. RESULTS: The number of missing teeth was significantly larger in group 1(22.3±5.8) than group 2 (12±6.6) (P<0.05). The number of retained deciduous teeth was significantly larger in group 1 (8±4) than in group 2 (2.4±2.7) in females (P<0.05). Cephalometric analysis showed a reduced maxilla length (ANS-Ptm), retrusive maxilla (S-Ptm, SNA, NA-PA), a normal size (S-Co) and length (Co-Po) of mandible, a protruding mandible (NP-FH) and chin (Y axis), skeletal Angle Ⅲ malocclusion(ANB<0) and a reduced facial height (N-Me) in two groups. SNA, NA-PA, ANS-Ptm, S-Ptm and Y axis were significantly decreased and NP-FH was significantly increased in group 1 compared to group 2 in males (P<0.05). CONCLUSIONS: Maxillofacial morphology of ED patients typically presented a reduced maxilla length and retrusive maxilla, a normal size and length of mandible, a protruding mandible and chin, skeletal Angle Ⅲ malocclusion and a reduced facial height. The severity of abnormalities in maxillofacial bone morphology was correlated positively with absence of permanent teeth. Furthermore, retained deciduous teeth might have positive effect on the development of maxillofacial bone.

CDH13 Genetic Polymorphisms, Adiponectin and Ischemic Stroke: a Chinese Family-based Sib-pair Study.

OBJECTIVE: To understand the relationships between CDH13 (T-cadherin) genetic polymorphisms, adiponectin levels and ischemic stroke, and possible interactions between CDH13 polymorphisms and other risk factors. METHODS: We recruited 342 Chinese ischemic stroke sib pairs. We genotyped rs4783244 and rs7193788 on CDH13 using time-of-flight mass spectrometry genotyping technology and measured total and high-molecular weight (HMW) adiponectin levels. We investigated associations between SNPs and ischemic stroke, and interactions between SNPs and other risk factors using multi-level mixed-effects regression model. RESULTS: In individuals without ischemic stroke, CDH13 rs4783244 was associated with total adiponectin levels (per T: Coef = -0.257, P = 0.001). CDH13 rs7193788 was associated with total adiponectin levels (per A: Coef = -0.221, P = 0.001) and HMW adiponectin levels (per A: Coef = -0.163, P = 0.003). rs7193788 was significantly associated with ischemic stroke (GA/AA vs. GG: OR = 1.55, 95% CI: 1.07 to 2.24, P = 0.020) after Bonferroni correction (α = 0.025). There was an interaction between rs7193788 and diabetes (P = 0.036). Compared to diabetes-free individuals with rs7193788 GG genotype, diabetes patients with rs7193788 GA/AA genotypes had higher risks for ischemic stroke (OR = 2.64, 95% CI: 1.58-4.40, P < 0.001). CONCLUSION: CDH13 genetic polymorphisms are associated with adiponectin levels and ischemic stroke. An interaction is found between CDH13 SNP and diabetes for ischemic stroke.

Accuracy of a real-time surgical navigation system for the placement of quad zygomatic implants in the severe atrophic maxilla: A pilot clinical study.

BACKGROUND: A real-time surgical navigation system potentially increases the accuracy when used for quad-zygomatic implant placement. PURPOSE: To evaluate the accuracy of a real-time surgical navigation system when used for quad zygomatic implant placement. MATERIALS AND METHODS: Patients with severely atrophic maxillae were prospectively recruited. Four trajectories for implants were planned, and zygomatic implants were placed using a real-time surgical navigation system. The planned-placed distance deviations at entry (entry deviation）points, exit (exit deviation) points, and angle deviation of axes (angle deviation) were measured on fused operation images. The differences of all the deviations between different groups, classified based on the lengths and locations of implants, were analysed. A P value of < 0.05 indicated statistical significance. RESULTS: Forty zygomatic implants were placed as planned in 10 patients. The entry deviation, exit deviation and angle deviation were 1.35 ± 0.75 mm, 2.15 mm ± 0.95 mm, and 2.05 ± 1.02 degrees, respectively. The differences of all deviations were not significant, irrespective of the lengths (P = .259, .158, and .914, respectively) or locations of the placed implants (P = .698, .072, and .602, respectively). CONCLUSION: A real-time surgical navigation system used for the placement of quad zygomatic implants demonstrated a high level of accuracy with only minimal planned-placed deviations, irrespective of the lengths or locations of the implants.

[Establishment and assessment of tibial osteoradionecrosis in rats].

PURPOSE: To establish a rat tibial osteoradionecrosis model and assess the model by observing clinical manifestation and histopathological examinations. METHODS: The right tibia of 6 Sprague Dawley (SD) rats (weighing 200-250 g) was irradiated by a linear accelerator (single fraction 15 Gy, total dose 60 Gy) every second week for four times. Hair and cutaneous changes of the irradiated region were observed one, two, three and four weeks after irradiation, respectively. Histopathological examination was employed to compare the bone tissue between the irradiated region and irradiation-free region. X-ray film was taken to evaluate the bone destruction. SPSS13.0 software package was used for statistical analysis. RESULTS: One week after irradiation, no significant change was observed in the irradiated region. However, the palm of the irradiated limb turned red remarkably in contrast with the opposite one. Two and three weeks after irradiation, trichomadesis was observed in the irradiated region. Four weeks after irradiation, complete trichomadesis and skin ulceration occurred in the irradiated region. In histopathological examinations, hematoxylin-eosin staining showed that bone mass including bone plate thickness, bone marrow cell, bone trabecula decreased significantly in the irradiated region compared with the control side. Moreover, significant bone destruction was found in irradiated group. CONCLUSIONS: We have successfully established a rat tibial model of osteoradionecrosis with radiation at dosage of 60 Gy divided into 4 times.

Profile and Correlates of Health-related Quality of Life in Chinese Patients with Coronary Heart Disease.

BACKGROUND: Although coronary heart disease (CHD) is one of the major cardiovascular diseases, risk factors associated with the health-related quality of life (HRQoL) of CHD patients remain unclear. The present study was designed to determine the profile and significant factors of the HRQoL in CHD patients. METHODS: A cross-sectional study was conducted in rural communities of Fangshan District, Beijing, China. Socio-demographic, lifestyle, and comorbidity information of CHD patients were collected by a structured questionnaire and medical records. HRQoL was measured using European Quality of Life 5-dimensions (EQ-5D) scale and EQ Visual Analog Scale (EQ-VAS). Multiple linear and logistic regressions were performed to explore the association of potential risk factors with HRQoL scores and each EQ-5D, respectively. RESULTS: Totally, 1928 CHD patients (mean age 61.64 ± 9.24 years; female:male = 2.4:1) were enrolled in the study. The mean score of EQ-5D index and EQ-VAS were 0.889 ± 0.172 and 71.56 ± 17.65, respectively. Multiple linear regression revealed that marital status, physical activity, moderate alcohol drinking, and family's population were positive independent correlates of EQ-VAS, whereas diabetes mellitus and stroke were negative independent correlates (all P < 0.05). Age and stroke were negatively while physical activity, moderate alcohol drinking, family's population and household income were positively correlated with EQ-5D index (all P < 0.05) independently. In addition, each of the five HRQoL dimensions had various specific determinants, including obesity, underweight, smoking or education. CONCLUSIONS: Findings of the study highlight certain socio-demographic, lifestyle factors, and comorbid stroke or diabetes mellitus as correlates of HRQoL in Chinese CHD patients. Large-scale cohort studies should be carried out to confirm our results in the future.

Eye-Lid approach for four zigomatic implant placement in the severely reabsorbed maxillae: technical note.

Up to date, zygomatic implants (ZIs) have been considered a predictable treatment modality for cases of atrophic maxilla. In some severe cases with severe vertical and/or horizontal bone resorption in the anterior maxilla, the placement of standard implants in the anterior area represents a challenge. In these arduous scenarios, performance of a zygomatic "quad-approach" might be advocated. Nevertheless, in limited zygomatic bone width, orbital cavity perforation constituted a potential risk that must be controlled during surgery. This paper focused at presenting a novel technique modification of conjunctival incision to expose the inferolateral orbital rim by an ophthalmologist, to assist the oral surgeon to have direct visualization of the orbital margin and to easily control the drilling direction. With this modification, the potential risk of orbital cavity penetration and its content damage could be diminished and ZIs might be well placed on accordance to prosthetically planned position.

Linkage and association between interleukin-6 gene polymorphisms and ischemic stroke: a family-based study in the northern Chinese Han population.

BACKGROUND: Numerous genetic risk factors of ischemic stroke (IS) have been reported from both candidate gene and genome-wide strategies with inconsistent results. The objective of this study was to confirm the relationship between 10 previously identified single-nucleotide polymorphisms (SNPs) and IS in the Chinese population. METHODS: A family-based study was conducted in a rural area of Beijing, with a total of 227 IS families with 622 participants recruited. Both linkage and association analyses were performed, with all the sibling pairs derived from the 227 families analyzed using the sib-pair test of model-free linkage to assess linkage between SNPs and IS, with association analyses including a family-based association test (FBAT) and generalized estimating equations (GEE). RESULTS: Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the interleukin-6 (IL-6) gene is significantly linked to the small arterial occlusion (SAO) subtype (p=0.022), while the rs7193343 polymorphism in the ZFHX3 gene is linked to IS (p=0.002) under the dominant model. Significant allelic associations were identified between the G allele of rs1800796 and IS (p=0.042) and the SAO subtype (p=0.025) in the FBAT. The GEE method revealed that the G allele of rs1800796 increased IS risk by 1.55-fold (95% 95% confidence interval [CI]: 1.01, 2.37; p=0.043) and 2.43-fold (95% CI: 1.32, 4.45; p=0.004) in the SAO subtype in the dominant model, which correlated with the significant associations detected in the FBAT. CONCLUSIONS: In this study, we confirmed that the SNP of rs1800796 in the IL-6 gene is related to IS and the SAO subtype using different statistical approaches. These findings could contribute to identifying individuals with a high IS risk.