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Highlights: [•] The association between the T-182C polymorphism and MDD was assessed by a meta-analysis. [•] A total of 1779 cases and 1584 controls were included. [•] No association was found between the NET T-182C polymorphism and MDD. [ABSTRACT FROM AUTHOR]

Objectives: The reported results of the relationship between genetic polymorphisms of tumor necrosis factor (TNF)-α −238, −308 locus and ankylosing spondylitis (AS) susceptibility are not always consistent. This article aims to perform a meta-analysis to collect all the relevant studies to date to further clarify the relationship between those genetic polymorphisms and AS. Methods: A computer search was carried out up to September 2011 for literature pertaining to AS and TNF-α polymorphisms. Results: Twenty-two articles were included, with 2,506 cases of AS and 3,023 normal controls. We searched for genotypes A allele vs. G allele, AA vs. GG + GA, and GA + AA vs. GG in a fixed/random-effects model. The effect summary odds ratios (ORs) and 95 % confidence intervals (CIs) were obtained, which shows there was no association between genetic polymorphisms and AS. As the heterogeneity was observed, in a subgroup analysis by ethnicity, the degree of risk of two genes with AS susceptibility was similar in populations of European and Asian origin. For the human leukocyte antigen (HLA)-B27+ population, results were not statistically significant. Conclusion: ORs of various comparisons indicate that there is no association between TNF-α −238, −308 polymorphisms and AS susceptibility in the overall population and in the subgroup of Asian and non-Asian descent. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: NAD(P)H:quinone oxidoreductase 1 (NQO1), an obligate two-electron reductase, plays an important role in reducing reactive quinones to less reactive and less toxic hydroquinones. Genetic variations in NQO1 gene that impede its enzyme function may be considered as putative risk factor for cancer. Numerous studies have been performed to investigate the association between NQO1 Pro187Ser polymorphism and bladder cancer risk; nevertheless, the results remain controversial. Methods: We indentified eligible publications from PubMed, Embase and CBM databases. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used to access the strength of the associations. False-positive report probability (FPRP) analysis was also performed for all statistically significant findings. Results: We collected a total of 15 studies including 4298 cases and 4275 controls in the final meta-analysis. Overall, the NQO1 187Ser carriers were associated with an increased bladder cancer risk (homozygous: OR = 1.43, 95% CI = 1.08-1.90; recessive: OR = 1.33, 95% CI = 1.03-1.72; dominant: OR = 1.19, 95% CI = 1.04-1.37, and allele comparing: OR = 1.18, 95% CI = 1.06-1.33). Stratification analyses showed a statistically significant association among Asians (homozygous: OR = 1.82, 95% CI = 1.39-2.38; recessive: OR = 1.52, 95% CI = 1.20-1.93, dominant: OR = 1.40, 95% CI = 1.05-1.88, and allele comparing: OR = 1.35, 95% CI = 1.15-1.58), never smokers (homozygous: OR = 2.30, 95% CI = 1.14-4.65; heterozygous: OR = 2.26, 95% CI = 1.43-3.56; dominant model: OR = 1.59, 95% CI = 1.14-2.21, and allele comparing: OR = 1.72, 95% CI = 1.27-2.33), hospital-based studies (homozygous: OR = 1.46, 95% CI = 1.09-1.94; recessive: OR = 1.32, 95% CI = 1.02-1.69; dominant: OR = 1.28, 95% CI = 1.05-1.56, and allele comparing: OR = 1.24, 95% CI = 1.07-1.43), studies with genotyping performed by PCR-RFLP under all genetic models, and studies with minor allele frequency >0.30 (homozygous: OR = 1.69, 95% CI = 1.25-2.27; recessive: OR = 1.46, 95% CI = 1.10-1.95, and allele comparing: OR = 1.25, 95% CI = 1.04-1.51), respectively. Conclusions: Despite some limitations, our meta-analysis provides sufficient evidence that NQO1 Pro187Ser polymorphism may contribute to bladder cancer risk. These findings need further validation in well-designed prospective studies with larger sample size and different ethnicities, especially for Asians. [ABSTRACT FROM AUTHOR]

This study was designed to explore the association between CAG repeats in AR gene and major depressive disorder (MDD) in male children and adolescents. The results showed that there were differences between adolescent depressive patients and adolescent controls in CAG repeats' length and alleles' distributions, and the severity of depression and anxiety was negatively correlated with the length of CAG repeats in adolescent patients. This suggested that AR gene might be involved in the depressive upset in adolescents, and the age- and sex-related prevalent differences might also be associated to CAG repeats. [ABSTRACT FROM AUTHOR]

Objectives: To explore the associations of FKBP4 and FKBP5 gene polymorphisms with disease susceptibility, glucocorticoid (GC) efficacy, anxiety, depression, and health-related quality of life (HRQOL) in systemic lupus erythematosus (SLE) patients. Methods: All subjects were collected from the First and the Second Affiliated Hospital of Anhui Medical University in Hefei, China, during 2011 to 2015. In the case–control study, 541 SLE patients and 543 controls were recruited. In the follow-up study, 466 patients completed the 12-week follow-up and then were divided into GC-sensitive and GC-insensitive groups. Genotyping was determined using Multiplex SNaPshot technique. Data were analyzed using chi-square test and univariate and multivariate logistic regression analyses. Results: rs4713904, rs9368878, and rs7757037 of FKBP5 were associated with depression in SLE patients (rs4713904, PBH = 0.037; rs9368878, PBH = 0.001; rs7757037, PBH = 0.003). Moreover, rs4713904 was associated with GC efficacy in males with SLE (PBH = 0.011). The rs755658 of FKBP5 was associated with improvement in social function (PBH = 0.022) and mental component summary (PBH = 0.028). The rs4713907 of FKBP5 was related to improvement in total score of SF-36, bodily pain, and mental component summary score (all PBH = 0.018). Furthermore, the rs12582595 of FKBP4 was correlated with general health improvement (PBH = 0.033). No associations were seen between FKBP4/FKBP5 gene polymorphisms and SLE susceptibility and anxiety. Conclusions: FKBP5 gene polymorphisms may be associated with depression and GC efficacy of SLE patients. Meanwhile, the genetic polymorphisms of FKBP4 and FKBP5 genes may be associated with HRQOL improvement in SLE patients. Key Points • FKBP5 gene polymorphisms were associated with depression of SLE patients. • FKBP5 gene polymorphisms were associated with GC efficacy of SLE patients. • FKBP5 gene polymorphisms were associated with HRQOL improvement in SLE patients. • FKBP4 gene polymorphisms were associated with HRQOL improvement in SLE patients. [ABSTRACT FROM AUTHOR]

New functions of tumor necrosis factor receptor-associated protein 1 (TRAP1) have been investigated recently. This study explored if TRAP1 gene polymorphisms in patients with systemic lupus erythematosus (SLE) are associated with disease susceptibility and the efficacy of glucocorticoids (GCs). A case control study was performed to explore the association between TRAP1 gene polymorphisms and susceptibility to SLE, then the SLE patients included in the case control study were followed to investigate the relationship between TRAP1 gene polymorphisms and efficacy of GCs. We also compared the improvement in health related quality of life (HRQOL) of patients among different genotypes of TRAP1 gene. The Benjamini-Hochberg (BH) method was used to correct for multiple comparison. In case control study, the significant association between rs8055172 and the susceptibility to SLE was discovered in the dominant model (p = 3.54 × 10 −7 ), which is further supported by the different distributions of haplotype TT and TC of rs2072379 and rs8055172 (p = 4.26 × 10 −4 and p = 6.93 × 10 −9 ). In the dominant model, rs3751842 and rs1639150 may be associated with fever of SLE patients (p = 0.035 and p = 0.028), while rs2072379 and rs12597773 related to oral ulcers (p = 0.021) and hematologic disorder (p = 0.035) respectively. In the follow-up study, rs6500552 showed a significant relationship with the efficacy of GCs in SLE patients in the dominant model (p = 0.004). Besides, rs3794701 was associated with the improvement in role-emotional (RE) of SLE patients in dominant model (p = 0.029). The results supported that TRAP1 gene polymorphisms may be associated with susceptibility to SLE and efficacy of GCs in SLE patients. [ABSTRACT FROM AUTHOR]

In our previous study, we found that glucocorticoid receptor (GR) gene genetic polymorphisms may play a major role in the efficacy of glucocorticoids (GCs) in Chinese systemic lupus erythematosus (SLE) patients. The aim of this study is to explore the association of GR gene genetic polymorphisms and improvement of health-related quality of life (HRQOL) in Chinese SLE patients treated with GCs. A total of 195 Chinese SLE patients were treated with GCs for 12 weeks. The HRQOL of patients was measured with the Medical Outcomes Study Short Form-36 (SF-36) at baseline and 12 weeks. Polymorphisms of GR gene were genotyped by using multiplex SNaPshot method. One hundred eighty-four patients (94.36 %) completed the 12-week follow-up. Twenty-three single-nucleotide polymorphisms of GR gene were genotyped. There was a significant association between rs10482672 polymorphism and improvement in physical function ( P = 0.043), general health ( P = 0.024), and social function ( P = 0.013). The rs12656106 polymorphism was associated with improvement in the total score of SF-36 ( P = 0.014), physical function ( P = 0.013), general health ( P = 0.010), vitality ( P = 0.015), social function ( P = 0.004), physical component summary ( P = 0.016), and mental component summary ( P = 0.014). The rs4912905 polymorphism was associated with improvement in bodily pain ( P = 0.040) and general health ( P = 0.038). The rs4912911 polymorphism was associated with improvement in general health ( P = 0.026) and vitality ( P = 0.027). The rs4986593 polymorphism was associated with improvement in bodily pain ( P = 0.034). The rs7719514 polymorphism was associated with improvement in vitality ( P = 0.002) and mental component summary ( P = 0.041). We also found a significant association between rs9324924 polymorphism and improvement in physical function ( P = 0.040), bodily pain ( P = 0.007), and general health ( P = 0.019). These results indicate that there may be an association of GR gene rs10482672, rs12656106, rs4912905, rs4912911, rs4986593, rs7719514, and rs9324924 polymorphisms with improvement of HRQOL in Chinese SLE patients treated with GCs. [ABSTRACT FROM AUTHOR]

The response to glucocorticoids (GCs) for patients with systemic lupus erythematosus (SLE) is characterized by wide interindividual variability, with a significant number of patients who have no response. We analyzed whether genetic polymorphisms within glucocorticoid receptor (GR) gene are related to variability in the efficacy of GCs in Chinese population with SLE. A cohort of 220 patients with SLE was studied. These patients were treated with GCs (prednisone) for 12 weeks. The efficacy of GCs was measured with the scores on SLE disease activity index (SLEDAI). Patients were classified into two groups (sensitive and insensitive) according to their response to GCs. Polymorphisms of GR gene were genotyped by using multiplex SNaPshot method. A total of 212 patients (96.4%) were included in the final data analyses. Of these patients, 110 patients were considered sensitive to GCs, and 102 patients were considered insensitive to GCs. Eighteen tag single nucleotide polymorphisms (SNPs) of GR gene were selected. Significant associations were seen for rs4912905 (dominant model: crude OR = 0.410, 95%CI = 0.233-0.722, p = 0.002; adjusted OR = 0.419, 95%CI = 0.233-0.754, p = 0.004), rs17100234 (dominant model: crude OR = 0.521, 95%CI = 0.282-0.963, p = 0.038; adjusted OR = 0.520, 95%CI = 0.279-0.970, p = 0.040) and rs7701443 (recessive model: crude OR = 2.736, 95%CI = 1.183-6.331, p = 0.019; adjusted OR = 2.639, 95%CI = 1.116-6.239, p = 0.027) in GR gene, but not for other polymorphisms ( p > 0.05). The results of the present study suggest that GR genetic polymorphisms may play a major role in the efficacy of GCs in Chinese population with SLE. [ABSTRACT FROM AUTHOR]

Aim: Polymorphisms of xeroderma pigmentosum complementation group C ( XPC) are thought to have significant effects on prostate cancer (PCa) risk. The aim of our study was to evaluate the impact of XPC gene polymorphisms on PCa risk by using a meta-analysis. Methods: Data were collected from the following electronic databases: PubMed, EMBASE, Elsevier Science Direct, Cochrane Library, and CNKI, with the last report up to April 30, 2013. Odds ratios with 95% confidence intervals were used to assess the strength of the association. Results: A total of five separate case-control studies (1966 cases and 1970 controls) were included in this meta-analysis. Meta-analysis was performed for the rs2228001 and PAT+/−polymorphisms. We did not detect a significant association between rs2228001 polymorphism and PCa ( p>0.05). Similar results were found in stratification analyses by ethnicity and tumor stage. We detected a significant association of PAT+/−polymorphism with PCa ( p<0.05). In stratification analysis, we did not detect a significant association of PAT+/−polymorphism with risk of bone metastasis in PCa patients ( p>0.05). Conclusion: These analyses suggest that XPC gene PAT+/−polymorphism, but not rs2228001, likely contributes to susceptibility to PCa. [ABSTRACT FROM AUTHOR]

The association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and diabetic nephropathy (DN) or diabetes mellitus (DM) risk has been widely reported, but the results are still debatable. To investigate the role of MTHFR C677T polymorphism on DM or DN, 13 separate studies in the Chinese population on the relation between MTHFR C677T polymorphism and DM or DN were analyzed by a meta-analysis. Five genetic models were used to estimate the association between MTHFR C677T polymorphism and the risk of DM or DN. Overall, our meta-analysis for DN versus healthy controls produced significant results for all genetic contrasts except for the co-dominant model (allele contrast: OR = 2.24, 95%CI: 1.88-2.65, p < 0.00001, Pheterogeneity = 0.49). However, the meta-analysis for DM versus healthy controls produced non-significant results for all contrasts (allele contrast: OR = 1.12, 95%CI: 0.92-1.35, p = 0.25, Pheterogeneity = 0.07). In addition, the meta-analysis for DM versus DN produced significant results for all contrasts (allele contrast: OR = 1.88, 95%CI: 1.65-2.15, p < 0.00001, Pheterogeneity = 0.83). The current meta-analysis suggested that MTHFR C677T polymorphism might influence DN risk, but not for DM in the Chinese population. [ABSTRACT FROM AUTHOR]

Abstract: The aim of our study was to assess the association between FKBP5 gene polymorphisms and treatment response in patients with mood disorders using a meta-analysis. Eight separate studies that included data from 2199 subjects were identified. Meta-analysis was performed for three FKBP5 gene polymorphisms (rs1360780, rs3800373, and rs4713916). A significant association of FKBP5 gene rs4713916 polymorphism and response rate was found in patients with mood disorders (Overall: A versus G: OR=1.28, 95%CI=1.06–1.53, P =0.01; GA+AA versus GG: OR=1.32, 95%CI=1.05–1.67, P =0.02. Caucasian: A versus G: OR=1.28, 95%CI=1.06–1.55, P =0.01; GA+AA versus GG: OR=1.33, 95%CI=1.04–1.70, P =0.02). However, we did not detect the association between FKBP5 gene rs1360780 and rs3800373 polymorphisms and treatment response in patients with mood disorders (P >0.05). This meta-analysis demonstrates that treatment response in patients with mood disorders is associated with FKBP5 gene rs4713916 polymorphism, but not rs1360780 and rs3800373. [Copyright &y& Elsevier]

Abstract: The aim of our meta-analysis was to assess the association between BDNF Val66Met polymorphism and treatment response in patients with MDD. 8 studies that included data from 1115 subjects were identified. We tested two phenotypes: response rate and remission rate. OR was used as a measure of the effect of the association in a fixed/random effect model. Meta-analysis was performed for genotypes Met/Met versus Val/Val, Val/Met versus Val/Val, Met/Met versus Val/Met, Val/Met+Met/Met versus Val/Val, Met/Met versus Val/Val+Val/Met, and Met allele versus Val allele. When all groups were pooled, a significant association of Val/Met genotype and increased response rate was found in comparison to Val/Val in overall population (OR=1.66, 95%CI=1.07–2.57, P =0.02). In the subgroup analysis, similar result was shown in Asian population (OR=1.83, 95%CI=1.03–3.26, P =0.04), but not in Caucasian population. We didn''t observe a significant association of BDNF Val66Met polymorphism with remission rate. This meta-analysis demonstrates the association between BDNF Val66Met polymorphism and treatment response in patients with MDD, and Val66Met heterozygous patients have a better response rate in comparison to Val/Val homozygote patients, especially in Asian population. [Copyright &y& Elsevier]

The tumor necrosis factor-α (TNF-α) promoter − 238A/G polymorphism has been repeatedly associated with systemic lupus erythematosus (SLE), but findings are not consistent across studies. Our aim was to do a meta-analysis to assess the association between TNF-α promoter − 238A/G polymorphism and SLE. Eleven published studies of this polymorphism with SLE in different ethnic groups were identified using a Medline search. 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. The overall odds ratio (OR) of the AA versus GG+GA genotypes was 3.46 (95% CI = 1.35–8.83, P = 0.01), and a similar result was found in Caucasian population (OR = 4.62, 95% CI = 1.20–17.80, P = 0.03); the overall OR of the AA versus GG genotypes was 3.36 (95% CI = 1.32–8.55, P = 0.01), and a similar result was found in Caucasian population (OR = 4.29, 95% CI = 1.11–16.53, P = 0.03); the OR of the GA versus GG genotypes was 0.48 (95% CI = 0.30–0.75, P = 0.001) in Caucasian population. In conclusion, this meta-analysis demonstrates the association between TNF-α promoter − 238A/G polymorphism and SLE, especially in Caucasian population. [ABSTRACT FROM AUTHOR]