Health-related quality of life in Chinese SLE patients: evidence from 1568 SLE patients and 2610 healthy controls.

OBJECTIVE: To investigate the effects of systemic lupus erythematosus (SLE) on health-related quality of life (HRQOL), the relationship between disease activity and HRQOL, and potential factors affecting HRQOL in Chinese SLE patients. METHODS: This study recruited 1568 patients and 2610 controls to explore the effects of SLE on HRQOL. The association between disease activity and HRQOL, and the influencing factors of HRQOL were determined in 1568 patients. Then, we prospectively followed 1096 patients to explore the association between reduced disease activity and improved HRQOL, and the influencing factors of improved HRQOL. The Short-Form 36 (SF-36) and SLE disease activity index (SLEDAI) were used to evaluate HRQOL and disease activity. RESULTS: Chinese SLE patients had lower HRQOL than controls in all domains (P < 0.001), especially in role-physical (RP) and role-emotional (RE). Compared with SLE patients from outside China, the HRQOL of Chinese patients appeared to be higher in mental component summary (MCS) but lower in RP and RE. SLEDAI was negatively correlated with HRQOL, which was validated using the results of a follow-up study, where SLEDAI reduction was positively associated with HRQOL improvements (P < 0.05). Furthermore, personality, life nervous and experiences of adverse life events may influence HRQOL and HRQOL improvements. CONCLUSION: SLE significantly affected the HRQOL of Chinese patients, especially in RP and RE. Disease activity was negatively correlated with HRQOL. We also found for the first time some factors affecting HRQOL, which can be regarded as the basis for improving the HRQOL of SLE patients.

Mitochondrial DNA genetic variants are associated with systemic lupus erythematosus susceptibility, glucocorticoids efficacy and prognosis.

OBJECTIVE: To investigate the associations of mitochondrial DNA (mtDNA) genetic variants with SLE susceptibility, glucocorticoid (GC) efficacy and prognosis. METHODS: Our study was done in two stages. First, we performed whole mitochondrial genome sequencing in 100 patients and 100 controls to initially screen potential mtDNA variants associated with disease and GC efficacy. Then, we validated the results in an independent set of samples. In total, 605 SLE patients and 604 normal controls were included in our two-stage study. A two-stage efficacy study was conducted in 512 patients treated with GCs for 12 weeks. We also explored the association between mtDNA variants and SLE prognosis. RESULTS: In the combined sample, four mtDNA variants (A4833G, T5108C, G14569A, CA514-515-) were associated with SLE susceptibility (all PBH < 0.05). We confirmed that T16362C was related to efficacy of GCs (PBH = 0.014). Significant associations were detected between T16362C and T16519C and the efficacy of GCs in females with SLE (PBH < 0.05). In the prognosis study, variants A4833G (PBH = 0.003) and G14569A (PBH = 9.744 × 10-4) substantially increased SLE relapse risk. Female patients harbouring variants T5108C and T16362C were more prone to relapse (PBH < 0.05). Haplotype analysis showed that haplogroup G was linked with SLE susceptibility (PBH = 0.001) and prognosis (PBH = 0.013). Moreover, mtDNA variant-environment interactions were observed. CONCLUSION: We identified novel mtDNA genetic variants that were associated with SLE susceptibility, GC efficacy, and prognosis. Interactions between mtDNA variants and environmental factors were related to SLE risk and GC efficacy. Our findings provide important information for future understanding of the occurrence and development of SLE.

Associations of RPEL1 and miR-1307 gene polymorphisms with disease susceptibility, glucocorticoid efficacy, anxiety, depression, and health-related quality of life in Chinese systemic lupus erythematosus patients.

OBJECTIVE: Our present study intended to examine the associations of RPEL1 and miR-1307 gene polymorphisms (rs4917385 and rs7911488) with susceptibility, glucocorticoids (GCs) efficacy, anxiety, depression, and health-related quality of life (HRQoL) in Chinese systemic lupus erythematosus (SLE) patients. METHODS: Initially, 1000 participants (500 SLE cases and 500 controls) were recruited for the case-control study. Then, 429 cases who received GCs were followed through 12 weeks to explore GCs efficacy, depression, anxiety, and HRQoL. We selected the iMLDR technique for genotyping: RPEL1: rs4917385 (G/T) and miR-1307: rs7911488 (A/G). RESULTS: The minor G allele of rs7911488 reduced the risk of SLE (p = .024). Four haplotypes consisting of rs4917385 and rs7911488 were associated with SLE susceptibility (p < .025). Both rs4917385 and rs7911488 were associated with anxiety symptoms and physical function (PF) in SLE patients (p < .025). The rs4917385 was associated with depression and its improvement. No statistical significance was found between RPEL1 and miR-1307 gene polymorphisms with GCs efficacy. Meanwhile, additive interaction analysis showed a significant association between RPEL1 and miR-1307 gene polymorphisms with tea consumption in anxiety. CONCLUSION: RPEL1 and miR-1307 gene polymorphisms (rs4917385 and rs7911488) might be related to SLE susceptibility in Chinese population. Additionally, the two polymorphisms were possibly associated with depression, anxiety, and HRQoL in Chinese SLE population.

Polycystic ovary syndrome and the risk of endometrial, ovarian and breast cancer: An updated meta-analysis.

BACKGROUND AND AIMS: This updated meta-analysis aimed to further quantify the risk of endometrial, ovarian, and breast cancer in patients with polycystic ovary syndrome (PCOS), thus providing updated and more reliable estimates. METHODS AND RESULTS: We identified relevant articles by searching electronic databases of PubMed, Embase, Web of Science, and Chinese Biological Medical Literature (CBM) published up to March 20, 2021. The pooled effect estimates and their 95% confidence intervals (CIs) were calculated using the random-effect model or the fixed-effect model. A total of 26 eligible studies were included. We found that PCOS was significantly associated with endometrial cancer (odds ratios [OR]: 3.66, 95%CI: 2.05-6.54, P < 0.001), but not with ovarian or breast cancer (OR: 1.23, 95%CI: 0.99-1.53, P = 0.059; OR: 0.94, 95%CI: 0.78-1.14, P = 0.551, respectively). However, in subgroups of high-quality studies, cohort studies, younger women (54 years or less or premenopausal), and studies with unadjusted body mass index (BMI), PCOS patients had a significantly higher risk of ovarian cancer. CONCLUSION: These results indicated that PCOS is a significant risk factor for endometrial cancer independent of BMI, but not for breast cancer. PCOS may increase the risk of ovarian cancer in younger women.

Hsp70 Gene Polymorphisms Are Associated With Disease Susceptibility and HRQOL Improvement in Chinese Han Population With Systemic Lupus Erythematosus.

OBJECTIVES: The aim of this study is to investigate whether heat shock protein 70 (Hsp70) gene polymorphisms are implicated in systemic lupus erythematous (SLE) susceptibility, the efficacy of glucocorticoids (GCs) treatment, and improvement of health-related quality of life. METHODS: A total of 499 SLE patients and 499 controls were included in a case-control study, and 468 SLE patients treated with GCs for 12 weeks were involved in a follow-up study. Patients who completed the 12-week follow-up were divided into GCs-sensitive and GCs-insensitive group by using the SLE disease activity index. The SF-36 was used to evaluate the health-related quality of life of SLE patients, and genotyping was performed by improved multiplex ligation detection reaction. RESULTS: rs2075800 was associated with SLE susceptibility (adjusted odds ratio [ORadj], 1.437; 95% confidence interval [CI], 1.113-1.855; Padj = 0.005; PBH = 0.020 by dominant model; ORadj, 1.602; 95% CI, 1.072-2.395; Padj = 0.022; PBH = 0.029 by TT vs CC model; ORadj = 1.396; 95% CI = 1.067-1.826; Padj = 0.015; PBH = 0.029 by TC vs CC model). In the follow-up study, rs2075799 was associated with the improvement in mental health (p = 0.004, PBH = 0.044), but we failed to find any association between the efficacy of GCs and Hsp70 gene polymorphisms. CONCLUSIONS: Hsp70 gene polymorphisms may be associated with susceptibility to SLE and improvement of mental health in Chinese Han population.

Association of oestrogen receptor alpha gene polymorphisms with systemic lupus erythematosus risk: An updated meta-analysis.

BACKGROUND: Systemic lupus erythematosus (SLE) is a complex, chronic autoimmune disease, and oestrogen is considered to be a predisposing factor for SLE. Although some studies are conducted to explore the association between oestrogen receptor alpha (ERα) gene polymorphisms and SLE susceptibility, their results are inconsistent. METHODS: Meta-analysis was conducted to confirm whether ERα gene polymorphisms were associated with SLE susceptibility, and the strength of association was anticipated by pooled ORs with 95% CIs. Stata software package version 12.0 was used to calculate all the statistical analyses. RESULTS: Twelve studies included 2494 cases and 4176 controls were incorporated in our meta-analysis. A significant association was found for ERα PvuII polymorphism in the overall population (CC+CT vs TT: OR = 1.334, 95% CI = 1.195-1.490, P < 0.001; CC vs TT: OR = 1.401, 95% CI = 1.096-1.791, P = 0.007; CT vs TT: OR = 1.284, 95% CI = 1.141-1.444, P < 0.001; C vs T: OR = 1.221, 95% CI = 1.084-1.375, P = 0.001), while there was no significant association for ERα XbaI polymorphism. Besides, in stratification analyses by ethnicity, the PvuII polymorphism was associated with an increased risk of SLE in Asians (CC+CT vs TT: OR = 1.379, 95% CI = 1.203-1.581, P < 0.001; CT vs TT: OR = 1.308, 95% CI = 1.130-1.515, P < 0.001; C vs T: OR = 1.240, 95% CI = 1.052-1.462, P = 0.010), while for ESR1 XbaI polymorphism, a significantly increased risk of SLE susceptibility was found in Asians (GA vs AA: OR = 1.271, 95% CI = 1.101-1.467, P = 0.001). CONCLUSION: Our meta-analysis indicated that the ERα PvuII polymorphism was significantly associated with SLE susceptibility in the overall and Asian populations, while the ERα XbaI GA genotype only played a key role in SLE susceptibility in Asian populations.

No association between wolframin gene H611R polymorphism and mood disorders: evidence from 2,570 subjects.

BACKGROUND: In the past few decades, a number of studies have investigated the association of the wolframin (WFS1) gene H611R polymorphism with mood disorders, but the findings are not always consistent. AIMS: The objective of the present study is to assess the association between WFS1 gene H611R polymorphism and mood disorders by using a meta-analysis. METHODS: A comprehensive literature search of PubMed, Excerpta Medica Database, Elsevier Science Direct and China National Knowledge Infrastructure databases was conducted to identify relevant articles, with the last report up to April 15, 2014. Pooled odds ratio (OR) with 95% confidence interval (CI) was estimated. RESULTS: Seven studies including 1318 cases and 1252 controls were selected from potentially relevant articles. This meta-analysis showed that there was no significant association between WFS1 gene H611R polymorphism and mood disorders (R vs. H: OR = 0.93, 95% CI = 0.82-1.05, P = 0.22; HR+ RR vs. HH: OR = 0.98, 95% CI = 0.82-1.17, P = 0.80; RR vs. HH+ HR: OR = 0.84, 95% CI = 0.67-1.04, P = 0.11; RR vs. HH: OR = 0.86, 95% CI = 0.67-1.10, P = 0.24; HR vs. HH: OR = 1.03, 95% CI = 0.78-1.36, P = 0.83). In subgroup analyses by ethnicity, we did not detect any significant association of this polymorphism with mood disorders in Caucasian and Asian populations (P > 0.05). In subgroup analyses by types of mood disorders, we also did not detect any significant association of this polymorphism with bipolar disorder or major depressive disorder (P > 0.05). CONCLUSIONS: The results of this meta-analysis suggest that there is no association between WFS1 gene H611R polymorphism and mood disorders.

Prevalence of systemic lupus erythematosus and risk factors in rural areas of Anhui Province.

Systemic lupus erythematosus (SLE) is a severe complex rheumatic disease, but good estimate of its prevalence and risk factors is lacking in China. The aim of the study was to explore the prevalence of SLE and risk factors in rural areas of Anhui Province of China. Eleven counties were randomly selected in Anhui Province, and then, 15% of the villages in selected counties were randomly sampled as study sites. Patients with SLE were identified through two phases. Based on the cases identified, a population-based case-control study was designed to examine risk factors associated with SLE. A total of 1,253,832 individuals and identified 471 SLE cases were surveyed. Crude and age-standardized prevalence were estimated at 37.56 and 36.03 per 100,000 persons, respectively. Gender difference in the prevalence of SLE was significant (P = 4.62 × 10(-76)), and the age-standardized prevalence was 6.17 for males and 67.78 for females per 100,000 persons. The distribution of SLE prevalence was significant by age group (P = 1.78 × 10(-53)), and the peak prevalence was observed at 40-50 years. Multiple environmental factors were associated with SLE, including birth conditions, sweet food, cooking oil, taste, fruit consumption, sunlight exposure, quality of sleep, physical activities, drinking water, residence, negative life events, hepatitis B vaccine, age of menarche, and age at birth of first child (P < 0.05). Our large population-based epidemiological survey estimated the prevalence of SLE at 37.56 per 100,000 persons. Multiple environmental factors were associated with the development of SLE.

Quantitative assessment of the association between miR-196a2 rs11614913 polymorphism and gastrointestinal cancer risk.

Published data on the association between miR-196a2 rs11614913 polymorphism and risk of gastrointestinal (GI) cancers are inconsistent among studies. To clarify the association, we performed a comprehensive literature search and a meta-analysis. We searched multiple databases to identify genetic association studies investigating the effect of miR-196a2 rs11614913 polymorphism on GI cancers with the last report up to January 18, 2012. The odds ratio (OR) and its 95 % confidence interval (95 % CI) were calculated to assess the strength of association. A total of 13 studies including 4,947 cases and 5,642 controls based on the search criteria were involved in this meta-analysis. In the overall analysis, it was suggested that variant C allele of miR-196a2 rs11614913 polymorphism could significantly increase risk of GI cancers in different genetic models (C vs T: OR = 1.17, 95 % CI = 1.07-1.28, P = 0.0008; CT + CC vs TT: OR = 1.26, 95 % CI = 1.08-1.48, P = 0.004; CC vs CT + TT: OR = 1.23, 95 % CI = 1.08-1.39, P = 0.002; CC vs TT: OR = 1.55, 95 % CI = 1.24-1.94, P = 0.0001; CT vs TT: OR = 1.20, 95 % CI = 1.02-1.40, P = 0.03). When stratified by ethnicity, we found a significant association in Asian population, as well as Caucasian population. When stratified by cancer types, we found a significant association in colorectal cancer, as well as esophageal cancer. We did not find a significant association between miR-196a2 rs11614913 polymorphism and hepatocellular carcinoma risk. For gastric cancer, a significantly increased cancer risk was observed only in homozygote comparison. This meta-analysis demonstrates that miR-196a2 rs11614913 polymorphism is significantly associated with risk of GI cancers.

[Impact of evening exercise on college students' sleep quality].

OBJECTIVE: To investigate the impact of college students' evening exercise on their sleep quality, so as to provide a scientific basis for college students to choose an appropriate method of exercise and improve their sleep quality. METHODS: From September to October in 2012, Multi-stage cluster random sampling method was used to select the 5997 college students in Anhui province. The status of college students' exercise and their sleep quality were investigated by the general situation questionnaire, Physical activity rating scale-3(PARS-3), Rating of perceived exertion(RPE) and Pittsburgh sleep quality index(PSQI). Kruskal-Wallis test was used to analyze the impact of evening exercise on sleep quality and multivariate unconditional logistic regression was used to analyze the factors of sleep quality in evening excise students. RESULTS: The median of PSQI total score among 5806 college students was 5 and 1030(17.7%) students had poor sleep quality. The median of the PSQI scores was the same (5 points) for evening exercise group, daytime exercise group,daytime and evening exercise group and non-exercise group (1406, 1514, 1244, 1642 respectively). The difference was not statistically significant (χ(2) = 2.80, P = 0.42). Compared to non-exercise population, the OR (95%CI) value of evening exercise' impact on sleep quality was 0.90(0.73-1.10). Compared to very light evening exercise, the OR (95%CI) value of moderate and large amount of evening exercise' impact on sleep quality was 0.58 (0.44-0.75) and 0.67 (0.48-0.93) respectively; Compared to other sports, the OR (95%CI) value of badminton, rope skipping and jogging' impact on sleep quality was 0.72 (0.55-0.93), 0.38 (0.21-0.70) and 0.76 (0.60-0.95) respectively and they were all protective factors of sleep quality. Compared to small exercise intensity, the OR (95%CI) value of moderate, vigorous and very vigorous exercise intensity' impact on sleep quality was 1.68 (1.13-2.52), 2.38 (1.48-3.83) and 3.18 (1.72-5.90) respectively and they were harmful factors of sleep quality. CONCLUSION: There was no impact of evening exercise on sleep quality for college students. Type of sports should be adequately chosen for evening exercise. College students can take moderate and large amount of evening exercise but should avoid activities of vigorous intensity.

Seasonal distribution of systemic lupus erythematosus activity and its correlation with climate factors.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with a variety of clinical manifestations. Although inter-individual variations exist with respect to susceptibility to develop SLE, no study has been carried out to determine the role of different climate conditions in predisposing the susceptible individuals to SLE. The objective of this study was to investigate the role of different seasons and climate factors on SLE activity. From 2000 to 2009, the seasonal distribution of 2,802 active SLE patients recruited from Anhui Provincial Hospital and the First Affiliated Hospital of Anhui Medical University was analyzed retrospectively. The climate data were provided by the Institute of Geographical Sciences and Resources, Chinese Academy of Sciences. The correlation between climate factors and SLE activity was also analyzed. The proportion of active SLE patients in winter, spring, summer, and autumn was 10.06, 10.31, 9.74, and 8.66‰, respectively. In autumn, the proportion was much lower than that in winter and spring (P < 0.05). The proportion among winter, spring, and summer had no statistical difference (P > 0.05). The number of active SLE patients had no correlation with air temperature (r = 0.483, P > 0.05), relative humidity (r = -0.294, P > 0.05), and sunshine percentage (r = 0.503, P > 0.05), but it had positive correlation with amount of precipitation (r = 0.601, P < 0.05), wind velocity (r = 0.713, P < 0.01), and sunshine duration (r = 0.769, P < 0.01) and negative correlation with barometric pressure (r = -0.664, P < 0.05). The disease activity of patients with SLE is affected by seasons and climate factors.

Social Support and Depression Among Pulmonary Tuberculosis Patients in Anhui, China.

Introduction: Pulmonary tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis affecting multiple tissues and organs. It is one of the leading causes of death and is a social disease in China. Increasing studies have revealed that the state of mental health and the social support are associated with the morbidity, mortality and community transmission of pulmonary TB patients. However, the previous global TB control and research strategy focused almost solely on the biomedical aspects. Therefore, in this study, we evaluated the level of depression and explored potential factors, including social support domains and socio-demographic characteristics in pulmonary TB patients to research the mental health state and the association between social support and pulmonary TB, ultimately implementing a multilevel intervene. Methods: A cross-sectional study was carried out to describe the status of depression and social support, and explore related factors associated with depression among pulmonary TB patients in Anhui Province, China. Five counties (districts) in Anhui Province, China were selected by simple random sampling method. Patients diagnosed with pulmonary TB eligible to the study criteria were investigated. A structured questionnaire composed of information on socio-demographic characteristics, self-rating depression scale (SDS) and social support rating scale (SSRS) was used to collect the data. Results: In this study, a total of 250 questionnaires were issued, and the effective questionnaires 237 were actually returned. Of the 237 patients with pulmonary TB, 71.3% of them were male and the mean age was 46.16 years (SD = 13.09). Depression symptoms were observed in 125 (52.7%) participants. Objective support (ß = -0.192, P=0.002) and subjective support (ß = -0.158, P = 0.015) had significantly negative effects on depression, while the effect of support utilization was not statistically significant. In contrast, being female (ß = 0.119, P = 0.036) and patients with positive sputum smear results (ß = 0.140, P = 0.014) were positively related to depression. Patients with monthly income between 500 and 999 were less likely to suffer from depression (ß = -0.134, P = 0.024) than those who were poorer. Additionally, both education level and marital status were found to be correlated with social support and depression state (all P<0.05). Discussion: In summary, the prevalence of depressive symptoms in pulmonary TB patients were high in Anhui Province, China. Low levels of social support can be an important predictor of depression symptoms. Therefore, screening for depression among pulmonary TB patients in the primary care setting is greatly warranted. Furthermore, psychological interventions should focus on providing available and adequate social support in order to improve mental health of them.

An association study on the risk, glucocorticoids effectiveness, and prognosis of systemic lupus erythematosus: insight from mitochondrial DNA copy number.

This study aimed to explore the role of mitochondrial DNA copy number (mtDNAcn) in the risk, glucocorticoid (GC) effectiveness, and prognosis of systemic lupus erythematosus (SLE) and its interactions with environmental factors and tumor necrosis factor receptor-associated protein 1 (TRAP1) genetic polymorphisms. We first conducted a case-control study of 1198 subjects (595 SLE patients and 603 healthy controls). Subsequently, we followed up with patients to assess the effectiveness of GC treatment and the prognosis of SLE. Real-time fluorescent quantitative PCR (qPCR) was used to quantify mtDNAcn. Associations were estimated using logistic regression, and prognosis analysis was performed using Kaplan-Meier analysis and Cox proportional hazards models. Interactions on multiplicative and additive scales were also evaluated. Individuals with low mtDNAcn had an increased risk of SLE (P < 0.001). Low mtDNAcn was associated with poor GC effectiveness in patients with spicy food consumption or with arthritis (P < 0.05). mtDNAcn was significantly related to the prognosis of SLE in the drinking subgroup (P = 0.018). Furthermore, we found significant interactions between mtDNAcn and environmental factors/TRAP1 genetic polymorphisms on the risk, GC effectiveness, and prognosis of SLE. Our data suggest that low mtDNAcn is associated with an increased risk of SLE. Alteration of mtDNAcn may be associated with GC effectiveness and prognosis in certain subgroups of SLE. The interactions between mtDNAcn, environmental factors, and TRAP1 gene polymorphisms may jointly affect the risk, GC effectiveness, and prognosis of SLE.

CYP17 gene polymorphisms and prostate cancer risk: a meta-analysis based on 38 independent studies.

BACKGROUND: The results of recent published studies focusing on CYP17 polymorphisms in prostate cancer (PCa) susceptibility are often conflicting. We performed a meta-analysis based on 38 independent studies to evaluate the association. METHODS: Data were collected from the following electronic databases: PubMed, Excerpta Medica Database, and Chinese Biomedical Literature Database, with the last report up to September 2010. Meta-analysis was conducted in a fixed/random effect model. RESULTS: Thirty-eight independent studies including 34,782 cases and 38,626 controls on the association of CYP17 gene polymorphisms with PCa risk in different ethnic groups were identified. The meta-analysis was performed for five polymorphisms: rs743572 (A1/A2, 38 studies), rs6162 (C/T, 3 studies), rs619824 (C/A, 4 studies), rs2486758 (T/C, 4 studies), and rs10883782 (A/G, 4 studies). When all groups were pooled, we did not detect the association of rs743572 polymorphism with PCa risk. In the subgroup analysis, a significant association of rs743572 polymorphism and PCa was found in Black population (A2/A2 vs. A1/A1 + A2/A1: OR = 1.70, 95% CI = 1.08-2.69, P = 0.02), but not in Caucasian or Asian population. For other polymorphisms, we found that rs619824 polymorphism was associated with a significant decreased risk of PCa (A vs. C: OR = 0.95, 95% CI = 0.92-0.99, P = 0.01), and rs2486758 polymorphism was associated with a significant increased risk of PCa (C vs. T: OR = 1.07, 95% CI = 1.03-1.12, P = 0.002). CONCLUSION: This meta-analysis suggests that rs743572 polymorphism is associated with PCa risk in Black population, but not in Caucasian or Asian population. Moreover, our study suggests that rs619824 and rs2486758 polymorphisms are associated with PCa risk.

Association between NFKB1 -94ins/delATTG promoter polymorphism and cancer risk: a meta-analysis.

The aim of our meta-analysis was to assess the association between NFKB1 -94ins/delATTG promoter polymorphism and cancer risk. Eleven studies that included data from 2,743 cases and 2,195 controls were identified. When all groups were pooled, we did not detect the association between NFKB1 -94ins/delATTG promoter polymorphism and cancer risk. In the subgroup analysis, we detected the association of NFKB1 -94ins/delATTG promoter polymorphism with cancer in Caucasian population. The association also was found in Asian population. This meta-analysis demonstrates the association of NFKB1 -94ins/delATTG promoter polymorphism with cancer in Caucasian and Asian populations, and this association is ethno-specific.

Association of the NFKBIA gene polymorphisms with susceptibility to autoimmune and inflammatory diseases: a meta-analysis.

OBJECTIVE: To quantitatively summarize the association of NFKBIA gene polymorphisms with autoimmune and inflammatory diseases. METHODS: We surveyed studies on the association of NFKBIA gene polymorphisms with autoimmune and inflammatory diseases in PubMed. Meta-analysis was performed in a fixed/random effect model. RESULTS: We identified 14 studies using a PubMed search. Meta-analysis was performed for NFKBIA gene polymorphisms at positions 2758 (A/G, 5 studies), -881 (A/G, 3 studies), -826 (C/T, 3 studies), and -297 (C/T, 3 studies). We did not detect associations of NFKBIA gene polymorphisms at positions 2758, -881, -297 with autoimmune and inflammatory diseases. An association of NFKBIA gene -826C/T polymorphism with autoimmune and inflammatory diseases was found (C vs. T: OR = 1.81, 95% CI = 0.97-3.36, P = 0.06; CT + TT vs. CC: OR = 2.11, 95% CI = 1.07-4.19, P = 0.03; TT vs. CC + CT: OR = 2.20, 95% CI = 0.78-6.21, P = 0.06; TT vs. CC: OR = 2.87, 95% CI = 0.78-10.62, P = 0.11; CT vs. CC: OR = 2.02, 95% CI = 1.22-3.36, P = 0.006). CONCLUSION: This meta-analysis demonstrates that autoimmune and inflammatory diseases are associated with NFKBIA gene -826C/T polymorphism, but not with 2758A/G, -881A/G, and -279C/T.

Meta-analysis of TYK2 gene polymorphisms association with susceptibility to autoimmune and inflammatory diseases.

The aim of our meta-analysis was to quantitatively summarize the association of TYK2 gene polymorphisms with autoimmune and inflammatory diseases. 11 studies that included data from 21497 cases and 22647 controls were identified. OR was used as a measure of the effect of the association in a fixed/random effect model. Meta-analysis was performed for six TYK2 gene polymorphisms (rs34536443, rs2304256, rs280523, rs280519, rs12720270 and rs12720356). Significant association was found in rs34536443 (C versus G: OR = 0.76, 95% CI = 0.69-0.84, P < 0.00001; GC + CC versus GG: OR = 0.78, 95% CI = 0.68-0.90, P = 0.0005; CC versus GG + GC: OR = 0.76, 95% CI = 0.28-2.05, P = 0.58; CC versus GG: OR = 0.74, 95% CI = 0.27-2.02, P = 0.56; GC versus GG: OR = 0.78, 95% CI = 0.68-0.90, P = 0.0006) and rs2304256 (A versus C: OR = 0.78, 95% CI = 0.70-0.87, P < 0.0001; CA + AA versus CC: OR = 0.69, 95% CI = 0.59-0.81, P < 0.0001; AA versus CC + CA: OR = 0.75, 95% CI = 0.66-1.00, P = 0.05; AA versus CC: OR = 0.64, 95% CI = 0.47-0.86, P = 0.003; CA versus CC: OR = 0.70, 95% CI = 0.60-0.83, P < 0.0001) in TYK2 gene, but not for the other polymorphisms (rs280523, rs280519, rs12720270, and rs12720356). This meta-analysis demonstrates that autoimmune and inflammatory diseases is associated with TYK2 gene rs34536443 and rs2304256 polymorphisms, but not rs280523, rs280519, rs12720270 and rs12720356.

The association of genetic polymorphisms with cerebral palsy: a meta-analysis.

AIM: The aim of our meta-analysis was to summarize quantitatively the association of genetic polymorphisms with cerebral palsy (CP). METHOD: We identified 16 studies on the association of genetic polymorphisms with CP in Pubmed, Elsevier Science Direct, Chinese Biomedical Literature Database, Chinese National Knowledge Infrastructure, and Wanfang. Eleven of these studies (involving a total of 2533 cases and 4432 controls) were used in the current meta-analysis. A study was included if (1) it was published up to September 2010 and (2) it was a case-control study. We excluded one study of family members because the analysis was based on linkage considerations. Meta odds ratios and 95% confidence intervals based on fixed-effects models or random-effects models were dependent on Cochran's Q statistic. We examined the relationship between alleles, as well as genotypes and susceptibility to CP. RESULTS: Meta-analysis was performed for 17 genetic polymorphisms: apolipoprotein E (ε2,ε3,ε4), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), coagulation factor II (rs1799963]), coagulation factor V (rs6025), coagulation factor VII (rs5742910/rs6046), interleukin-6 (IL-6) (rs1800795), endothelial nitric oxide (rs1800779/rs1799983/rs3918226), fibrinogen ß-polypeptide (rs1800790), plasminogen activator inhibitor 1 (rs1799768/rs7242), TNF-ß lymphotoxin α precursor (rs1041981), adducin 1 (α) (rs4961), ADRB2 (rs1042714), and tumour necrosis factor α (rs1800629). We found a significant association between CP and IL-6 (rs1800795) [C vs G: odds ratio (OR) 1.79, 95% confidence interval (CI) 1.44-2.22, p<0.001; CC+GC vs GG: OR 1.72, 95% CI 1.29-2.29, p=0.002; CC vs GG+GC: OR 2.17, 95% CI 1.52-3.09, p<0.001], but no other genetic polymorphisms. INTERPRETATION: This meta-analysis demonstrated that CP is associated with the genetic polymorphism IL-6 (rs1800795).

Meta-analysis of TNF-α promoter -308A/G polymorphism and SLE susceptibility in Asian populations.

The aim of this study was to summarize results on the association of tumor necrosis factor-α (TNF-α) promoter -308A/G polymorphism with systemic lupus erythematosus (SLE) susceptibility in Asian populations by using the meta-analysis. We searched all the publications about the association between TNF-α promoter -308A/G polymorphism and SLE in Asian populations from PubMed, Elsevier Science Direct, Chinese Biomedical Literature Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang (Chinese). Meta-analysis was performed for genotypes AA versus GG, GA versus GG, AA versus GG + GA, GA + AA versus GG, and A allele versus G allele in a fixed/random effect model. A total of 12 studies (1017 cases and 1086 controls) were included in the current meta-analysis (Chinese, Japanese, and Thai). When all groups were pooled, a significant association of A allele and increased SLE risk was found (OR = 1.44, 95%CI = 1.04-2.01, P = 0.03). When analyses were restricted to more ethnically homogeneous populations, similar result was found in Chinese population (OR = 1.59, 95%CI = 1.12-2.26, P = 0.009). But the association between TNF-α promoter -308 polymorphism and SLE was not observed when examining the contrast of G/A + A/A versus G/G, A/A versus A/G + G/G, A/A versus G/G, and G/A versus G/G. This meta-analysis demonstrates the association between TNF-α promoter -308A/G polymorphism and SLE in Asian populations, especially in Chinese population.

Meta-analysis of ACE gene I/D polymorphism and bipolar disorder susceptibility.

BACKGROUND: A number of studies have been conducted to explore the association between ACE gene insertion/deletion (I/D) polymorphism and bipolar disorder (BPD). However, the reported results were conflicting. AIMS: The aim of our study was to find evidence on whether ACE gene I/D polymorphism is associated with BPD using a meta-analysis. METHODS: Data were collected from the following electronic databases: Pubmed, Elsevier Science Direct, Cochrane Library, CBM, CNKI and Wanfang. Meta-analysis was performed for genotypes ID vs. II, DD vs. II, DD vs. ID + II, ID + DD vs. II, and D allele vs. I allele in a fixed/random effect model. RESULTS: Seven studies that included data from 605 cases and 1541 controls were identified. When all groups were pooled, we did not detect the association of ACE gene I/D polymorphism with BPD (P > 0.05). In the subgroup analysis, we did not detect the association of ACE gene I/D polymorphism with BPD in Caucasians (P > 0.05). An association of ACE gene I/D polymorphism with BPD was found in Asians for the contrast of DD vs. ID + II (OR = 2.01, 95% CI 1.08-3.74, P = 0.03), but not for other contrasts (P > 0.05). CONCLUSIONS: This meta-analysis suggests that there may be an association of ACE gene I/D polymorphism with BPD in Asians. Further studies are still needed in Asians.