BACKGROUND: Cervical cancer is the fourth most common cancer among women worldwide. Genome-wide association studies have revealed multiple susceptible genes and their polymorphisms for cervical cancer risk. Therefore, we aimed to investigate the correlation between single nucleotide polymorphisms (SNPs) of the CD40 gene and susceptibility to cervical squamous cell carcinoma (CSCC) in a population from the northeastern Han Chinese population.
METHODS: The three SNPs (rs1800686, rs3765459, and rs4810485) of the CD40 gene were analyzed by multiplex polymerase chain reaction (PCR) combined with next-generation sequencing methods in 421 patients with CSCC, 594 patients with high-grade squamous intraepithelial lesions (HSIL), and 504 healthy females. Multivariate logistic regression analysis was used to analyze the potential relationship between CD40 gene polymorphisms and CSCC, or HSIL.
RESULTS: Our research results showed the AA genotype of rs1800686 had a protective effect on CSCC in comparison to the GG genotype and AG+GG genotypes (AA vs. GG: p = 0.0389 and AA vs. AG+GG: p = 0.0280, respectively). After FDR correction, the results were still statistically significant (p = 0.0389 and p = 0.0389, respectively). Similarly, rs3765459 showed a reduced risk association for CSCC in the codominant and recessive models (AA vs. GG: p = 0.0286 and AA vs. AG+GG: p = 0.0222, respectively). Significant differences remained after FDR correction (p = 0.0286 and p = 0.0286, respectively). However, these differences were no longer significant after the Bonferroni correction. In addition, the genotypes for the rs4810485 polymorphisms were associated with parity of the patients with CSCC. The genotypes for the rs3765459 polymorphisms were significantly correlated with the D-dimer of the patients with CSCC. The 3 SNPs genotypes of the CD40 gene were closely related to the squamous cell carcinoma antigen (SCC) of the patients with HSIL.
CONCLUSIONS: The CD40 gene may play a role in the occurrence and development of CSCC.

Misdiagnosis of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) can occur when different case definitions are used by clinicians (relative misdiagnosis) or when failing the genuine diagnosis of another disease (misdiagnosis in a strict sense). This problem translates to a recurrent difficulty in reproducing research findings. To tackle this problem, we simulated data from case-control studies under misdiagnosis in a strict sense. We then estimated the power to detect a genuine association between a potential causal factor and ME/CFS. A minimum power of 80% was obtained for studies with more than 500 individuals per study group. When the simulation study was extended to the situation where the potential causal factor could not be determined perfectly (e.g., seropositive/seronegative in serological association studies), the minimum power of 80% could only be achieved in studies with more than 1000 individuals per group. In conclusion, current ME/CFS studies have suboptimal power under the assumption of misdiagnosis. This power can be improved by increasing the overall sample size using multi-centric studies, reporting the excluded illnesses and their exclusion criteria, or focusing on a homogeneous cohort of ME/CFS patients with a specific pathological mechanism where the chance of misdiagnosis is reduced.

Single nucleotide polymorphisms account for most genetic predispositions to breast cancer in the general population. Because of the lack of studies concerning the 2 common polymorphisms in caspase 8 (CASP8), namely rs104548 and rs10931936 in Iranian population, we evaluated the association of these 2 polymorphisms and their haplotypes with breast cancer and molecular profile.
Blood samples were collected from 287 breast cancer patients and 490 controls. Genotyping of rs1045485 and rs10931936 was conducted using an amplification refractory mutation system and polymerase chain reaction restriction fragment length polymorphism, respectively. PHASE version 2 (Matthew Stephens) was used to estimate the frequencies of haplotypes. Statistical analysis was performed using SPSS 16.0 (SPSS Inc).
Although hormone receptors and the molecular profile did not indicate any significant association with different genotypes (P > .05), patients with CC genotype of rs1045485 were more likely to have HER2-positive breast cancer than those with GG genotype (odds ratio [OR], 2.93; 95% confidence interval [CI], 1.0 4-8.26). In addition, CC genotype of D302H was associated with a decreased risk of breast cancer to 48% (OR, 0.52; 95% CI, 0.30-0.90) whereas no significant association was found between rs10931936 and breast cancer. Haplotype analysis indicated C-C haplotype is associated with the decreased risk of breast cancer (OR, 0.69; 95% CI, 0.52-0.91).
Our data showed a protective effect for CC genotype of rs1045485 variant and C-C haplotype of rs10931936-rs104548 in CASP8 in association with the decrease risk of breast cancer whereas rs10931936 showed no significant association. CASP8 rs1045485 polymorphism might be a candidate genetic marker to evaluate risk of breast cancer. However, further larger studies can confirm such findings.

Genetic factors, especially those related to immune system functioning, have been intensively studied to determine their role in the development of recurrent aphthous stomatitis (RAS). The aim of the present study was to analyze gene variability in interleukin (IL)2, IL4 (and its receptor α, IL4Rα), IL10, and IL13, which were selected based on literature review and/or their functional relevance, in Czech patients with RAS and in healthy controls. In total, 252 subjects (178 controls and 74 patients with RAS) were enrolled in this case-control study, and their detailed anamnestic, clinical, and laboratory data were obtained. Nine polymorphisms in the genes encoding interleukins were determined using PCR techniques. There were no significant differences in allele or genotype frequencies of the IL2, IL4, IL4Rα, IL10, and IL13 polymorphisms rs2069762/rs2069763, rs2243250/rs79071878, rs1801275, rs1800896, and rs1800925, respectively, between controls and patients with RAS. The minority alleles rs1800871 and rs1800872, which encode variants of IL10, were associated with a statistically significantly higher risk of RAS, as confirmed by the results of genotype and haplotype analyses. We suggest that variability in the IL10 gene may play an important role in the development of RAS in the Czech population.

Several studies suggest an important role of Acyl-CoA: cholesterol acyltransferase-1(ACAT-1) in the development of atherosclerosis. The aim of present study was to investigate whether there exists a possible correlation between genetic variations in ACAT-1 genes and coronary artery disease (CAD) risk. Four polymorphisms (rs1044925, rs11545566, rs12121758 and rs10913733) were finally selected and genotyped in 750 CAD patients and 580 health controls, using the improved multiplex ligation detection reaction (iMLDR) method. We found that the rs11545566 G allele was associated with a significantly elevated CAD risk [GG vs. AA: adjusted odds ratio (AOR) = 1.62, 95% confidence interval (CI) = 1.13-2.32, P = 0.008; GA/GG vs. AA: AOR = 1.67, 95% CI = 1.22-2.29, P = 0.001]. The rs10913733 G allele was also associated with a significantly elevated CAD risk (GG vs. TT: AOR = 1.57, 95% CI = 1.08-2.28, P = 0.018; GT/GG vs. TT: AOR = 1.39, 95% CI = 1.07-1.79, P = 0.013). Multivariate linear regression analysis showed that the rs11545566 polymorphism was independently associated with the Gensini scores (P = 0.005). The Gensini score of subjects in the variant GG genotype group and the GG/GA genotype group were higher than the score of subjects in the AA genotype group (32.49 ± 26.60 and 31.26 ± 26.96 vs. 23.45 ± 21.64; P = 0.001 and 0.002, respectively). Our results demonstrate that ACAT-1 rs1154556 and rs10913733 polymorphism are novel genetic factors in the development of CAD. Rs11545566 was also associated with the severity of CAD.

BACKGROUND: Animal researches reported that the dysfunction of profilin1 (PFN1) was involved in the physiological arterial stiffness and vascular remodeling linking to the etiology of hypertension (HT). This study mainly aims at evaluating the association of PFN1 and HT in a Han Chinese population.
METHODS: A case-control study consisted of 2,012 HT cases and 2,210 controls was conducted and 2,116 participants from the healthy controls were further followed up for average 5.01 years. Logistic and Cox regression models were applied to evaluate the association of 4 tag single nucleotide polymorphisms (SNPs) of PFN1 and ENO3 with HT.
RESULTS: There was no significant association of the 4 SNPs between HT cases and controls even after adjustment for confounding factors (P > 0.05). Haplotype analysis did not identify any significant haplotype with HT. There were no statistical difference of systolic blood pressure (BP) and diastolic BP among different genotypes in antihypertensive-treated group and untreated group. In follow-up population, there was no significant association of candidate SNPs with HT even after adjustment for covariates (all P > 0.05). Of note, the plasma profilin1 level of HT cases was significantly higher than that of control subjects (P = 0.011). The profilin1 levels of controls significantly decreased with variation of rs238243 at PFN1 (P = 0.041), and the profilin1 levels of HT cases increased with variation of rs238238 at ENO3 (P = 0.004).
CONCLUSIONS: Our results suggest that HT cases displayed an elevated plasma profilin1. Variants of rs238243 and rs238238 might regulate profilin1 expression by epigenetic modification and indirectly affects the susceptible threshold of HT.

暂无摘要。

BACKGROUND: The C-reactive protein (CRP) and the tumor necrosis factor-alpha (TNF-α) are considered markers of inflammation and have been shown to predict the risk of incident cardiovascular events. However, few studies have undertaken a comprehensive examination of SNPs (single nucleotide polymorphisms) of the CRP and TNF-α genes; due to this, we will present a protocol study to evaluate the role of the CRP and TNF-α genes in Mexican individuals.
METHODS: we will perform a case-control study to explore the CRP and TNF-α genotype distribution as well as the serum influence of rs1800947, rs1130864, rs2794521 and rs1205 (polymorphisms of the CRP gene) and rs361525, rs1800629, rs1799724, rs1800630, rs1799964 (of the TNF-α gene) in Mexican individuals who present coronary artery disease.
BACKGROUND: a written informed consent will be obtained from all the participating subjects. An article detailing the results of the study will be submitted for publication in an international peer-reviewed journal, in accordance with STROBE criteria.

BACKGROUND: The rs10761482 polymorphism of the ANK3 gene has been associated with the occurrence of schizophrenia.
OBJECTIVE: Assess the relationship between the ANK3 gene and schizophrenia in individuals of Uyghurian descent.
METHODS: A total of 630 patients with schizophrenia and 535 healthy controls of Uyghur descent were genotyped for the ANK3 gene rs10761482 locus using Taqman probe technology. SHEsis and SPSS17.0 software were used for data analysis.
RESULTS: There were no significant differences in the genotype or allele frequencies between the case group and control group. Within the case group there was no relationship between gender or age of onset of schizophrenia and the genotype or allele frequencies. Separate analyses among men and among women also failed to identify significant differences in the allele and genotype frequencies between cases and controls or between patients with adolescent-onset schizophrenia and those with adult-onset schizophrenia.
CONCLUSIONS: Our findings do not support previous reports about the relationship of the ANK3 gene and schizophrenia. In the Uyghur nationality group recruited for this study there was no significant association between the ANK3 gene rs10761482 polymorphism and schizophrenia. If these results are replicated in further studies, then the focus should change to understanding why this widely acknowledged association does not exist in this particular ethnic group.
ANK3基因rs10761482多态性已被发现与精神 分裂症的发生相关联。
评估新疆维吾尔族人群ANK3基因和精神分裂 症之间的关联。
使用Taqman探针技术对630例新疆维吾尔族 精神分裂症患者和535名新疆维吾尔族健康人群进行 ANK3 基因rs10761482位点的基因分型。采用SHEsis 和SPSS17.0软件进行数据分析。
病例组和对照组之间的基因型和等位基因频率 无显著差异。在病例组，性别或精神分裂症发病年龄 与基因型或等位基因频率之间没有显著关联。将男性 和女性单独分析，病例组与对照组之间的等位基因和 基因型频率均未发现显著差异，青春期发病与成年后 发病的精神分裂症患者之间的等位基因和基因型频率 也无显著差异。
我们的研究结果不支持以往ANK3基因与精神 分裂症有关联的报告。本研究招募的维吾尔族人群中， ANK3 基因rs10761482多态性与精神分裂症之间没有 显著关联。如果这些结果在进一步的研究中得到证实， 那么研究重点将转而了解为什么在这个特定的族群中 不存在上述已经被广泛认可的关联。