scholarly journals Association of CD40 and thyroglobulin genes with later-onset Graves' disease in Taiwanese patients

2008 ◽  
Vol 159 (5) ◽  
pp. 617-621 ◽  
Author(s):  
Jeng-Yueh Hsiao ◽  
Ming-Chia Hsieh ◽  
Cheng-Ting Hsiao ◽  
Hsu-Huei Weng ◽  
Der-Shin Ke

ObjectiveGraves' disease (GD) is known to be associated with thyroglobulin (TG) and CD40 genes. Therefore, we decided to investigate the relationship of age at onset of GD with CD40 and TG gene susceptibilities in a Taiwanese population.Design and methodWe analyzed the association of TG and CD40 polymorphisms with age at onset of GD in Taiwanese patients. We stratified patients into those with early onset (<40 years; 30.3±4.8 years; n=135) and later onset (≥40 years; 52.3±6.3 years; n=80) and compared the results with those of 141 normal controls.ResultsWe found a significant statistical difference in the T/T genotype frequency of E33 single nucleotide polymorphism (SNP) and G/G genotype frequency of E12 SNP when compared with the control group (P<0.001). In addition, the frequencies of the T allele and TT genotype of the CD40 SNP were found to be significantly increased in GD patients who developed GD aged over 40 years than those below 40 years (allele: χ2=5.299, P=0.021, OR=1.597; genotype: χ2=6.168, P=0.046). By contrast, the frequencies of genotypes in the TG gene E10, E12, and E33 SNPs were not found to be significantly different in GD patients who developed GD when aged over 40 years when compared with those aged below 40 years.ConclusionsThese data suggest that the T/T genotype and T allele in the CD40 gene are more likely to be associated with late-onset GD in Taiwanese patients.

2013 ◽  
Vol 16 (01) ◽  
pp. 1350004 ◽  
Author(s):  
Matthew B. Carroll ◽  
Mauricio DeCastro-Pretelt ◽  
Nicole Hust ◽  
Freddie Smith ◽  
Tigist Belema ◽  
...  

Background: There is evidence linking xanthine oxidase (XO) single nucleotide polymorphisms (SNPs) to multiple medical conditions. The relationship of XO SNPs to hyperuricemia/gout is limited. An in vitro study of serum from healthy adults found two XO SNPs at 2107A > G and 3662A > G associated with a two-fold higher activity of the enzyme. Materials and Methods: The main outcomes of this study were to determine if the presence of either 2107A > G or 3662A > G XO SNP led to the occurrence of hyperuricemia, gout, or necessitated a higher dose of XO inhibitor (XOI) to achieve a treatment goal of less than 6 mg/dL. A total of 72 patients were enrolled in the hyperuricemia/gout group; 41 in the control group. XO SNPs were amplified and sequenced. Patient interviews and chart reviews gathered demographic data, use of XOI, comorbidities, and serum uric acid levels. Results: The 2107A > G SNP was detected in six patients with hyperuricemia/gout and two patients in the control group. There was no association between either XO SNP with the occurrence of hyperuricemia/gout (p = 0.709). A higher dose of allopurinol was needed to achieve a treatment serum uric acid goal of less than 6 mg/dL (p = 0.049). The 3662A > G SNP was not identified in any patients in the either group of the study. Conclusion: While the presence of 2107A > G SNP had no relationship to hyperuricemia or gout in our cohort it did affect the dose of allopurinol needed to achieve a treatment goal of less than 6 mg/dL. The 3662A > G SNP was not identified in our sample.


2020 ◽  
Vol 41 (2) ◽  
pp. 134-140
Author(s):  
Yuriy Bisyuk ◽  
Andrew Dubovyi ◽  
Ilona DuBuske ◽  
Viktor Litus ◽  
Lawrence M. DuBuske

Background: This study assessed gene polymorphisms of the CD14 receptor (C-159T) and Toll-like receptor 4 (Asp299Gly) in a patient population in Crimea, Ukraine, stratified by clinical (early versus late onset; frequent versus occasional relapses; fixed versus reversible obstruction) and immunologic (atopic versus nonatopic; eosinophilic; neutrophilic or paucigranulocytic inflammation) subtype. Methods: Two polymorphisms, CD14 C-159T and TLR4 Asp299Gly, were assessed in 331 patients with asthma. The control group included 285 volunteers who were nonatopic. The single nucleotide polymorphisms were studied by using polymerase chain reaction with electrophoretic detection. Results: There were increased odds of asthma development in patients with the Asp299Gly TLR4 mutation compared with the general population underdominant odds ratio (OR) 1.52 [95% confidence interval (CI), 1.00‐2.32] and overdominant (OR 1.55 [95% CI, 1.01‐2.38]) models after adjustment for gender and age. In addition, mutations in this gene decreased the odds of nonatopic asthma in underdominant (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.027), overdominant (OR 0.27 [95% CI, 0.07‐0.96]; p = 0.033), and log-additive models (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.026) compared with the atopic subgroup after adjustment for gender, age, number of exacerbations, and type of airway inflammation. Allele frequencies for CD14 and TLR4 polymorphisms did not show statistical differences between the patients with asthma and the control subjects. Conclusion: CD14 C-159T polymorphisms were not associated with asthma in the adult population in Crimea. TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea.


2018 ◽  
Vol 67 (2) ◽  
pp. 338-345 ◽  
Author(s):  
Jianshuang Li ◽  
Tong Li ◽  
Shuo Li ◽  
Lipeng Xie ◽  
Yi-Lin Yang ◽  
...  

Previous studies have demonstrated that CXCL12/CXCR4 axis is closely related to tumors such as malignant pleural mesothelioma (MPM). This research was conducted in order to detect whether CXCL12/CXCR4 inhibitors could restrain MPM and have a synergistic effect with chemotherapy, also to investigate the relationship of CXCL12/CXCR4 with other gene expressions in MPM. Forty mice were injected MPM cells and randomly divided into four groups: the PBS (control group), AMD3100 (CXCR4-CXCL12 antagonist), pemetrexed and AMD3100 plus pemetrexed. The mice were treated respectively for duration of 3 weeks. The size, bioluminescence and weight of tumors were measured. The differences between gene expressions in each group were analyzed. The tumor weights of each treatment group were lower than that of the control group (p<0.05). The bioluminescence of the tumor of the AMD3100 treatment group and the AMD3100 plus pemetrexed treatment group were lower than that of the control group (p<0.05), and AMD3100 was shown to have synergistic effects with pemetrexed (p<0.05). Among the 2.5 billion genes, several hundreds of genes expressed differently between groups. Results show that AMD3100 and pemetrexed can inhibit the growth of MPM in vivo, also that there is a better result if both are used together. Our findings suggest that CXCL12/CXCR4 axis affects a certain amount of gene expression in MPM.


Author(s):  
Federica Klaus ◽  
Justin Chumbley ◽  
Erich Seifritz ◽  
Stefan Kaiser ◽  
Matthias Hartmann-Riemer

AbstractLoss aversion is a behavioral phenomenon that describes a higher sensitivity to losses than to gains and influences decisions. Decision-making is altered in several psychopathologic states, such as in the two symptom dimensions of hypomania and negative symptoms. It has been argued that progress in our understanding of psychopathology requires a reorientation from the traditional, syndrome-based perspective to a more detailed study of individual constituent symptoms. In the present study, we made careful efforts to dissociate the relationship of loss aversion to negative symptoms, from its relationship with hypomanic symptoms. We selected a sample of 45 subjects from a healthy student population (n = 835) according to psychopathologic scales for hypomania and negative symptoms and stratified them into a control group (n = 15), a subclinical hypomania group (n = 15) and a negative symptoms group (n = 15). Participants completed a loss aversion task consisting of forced binary choices between a monetary gamble and a riskless choice with no gain or loss. We found, that these two symptom dimensions of hypomania and negative symptoms have a similar inverse relation to loss aversion as demonstrated by analysis of variance. Further research is warranted to describe the underlying psychological and neurobiological mechanisms at play. Given the partially opposing nature of hypomania and negative symptoms it further needs to be elucidated whether they are linked to loss aversion via dissociable mechanisms.


2020 ◽  
Author(s):  
Kai Rong ◽  
Zhiquan Liang ◽  
Wenyuan Xiang ◽  
Zhan Wang ◽  
Fengli Wen ◽  
...  

Abstract Background: IL-1R2, serves as a negative regulator of IL-1 signaling, is involved in the pathogenesis of osteoporosis. This study aimed to determine the correlation between IL-1R2 polymorphism and osteoporosis susceptibility among the Chinese Han population.Methods: We recruited 594 osteoporosis patients and 599 healthy controls. Six single nucleotide polymorphisms (SNPs) in IL-1R2 were selected for genotyping using Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) was calculated through logistic regression analysis with adjustment for age and sex. Linkage disequilibrium analysis was plotted by Haploview v4.2. Multifactor dimension reduction (MDR) was performed to estimate the SNP-SNP interaction of IL-1R2 variants.Results: Our result revealed that rs11674595 (OR = 1.86, p = 0.020), rs2072472 (OR = 1.26, p = 0.019) and rs4851527 (OR = 0.78, p = 0.007) were related to the risk of osteoporosis. Moreover, the contribution of IL-1R2 polymorphisms to osteoporosis risk presented age, sex and BMI difference. We found the relationship of Trs11674595Ars4851527 (OR = 0.80, p = 0.015), Crs11674595Grs4851527 (OR = 1.22, p = 0.043) and Ars3218977Grs2072472 (OR = 1.25, p = 0.022) haplotypes to osteoporosis occurrence, and a potential accumulated effect of IL-1R2 SNPs (testing accuracy = 0.5783 and CVC = 10/10) on osteoporosis susceptibility.Conclusion: IL-1R2 polymorphisms (rs11674595, rs4851527, rs2072472 and rs3218977) might contribute to osteoporosis risk among the Chinese Han population. Our finding may increase our understanding of the effects of IL-1R2 polymorphisms on the predisposition of osteoporosis.


2008 ◽  
Vol 132 (12) ◽  
pp. 1903-1906
Author(s):  
Amy C. Gruszecki ◽  
Gerald McGwin, Jr ◽  
C. Andrew Robinson, Jr ◽  
Gregory G. Davis

Abstract Context.—Forensic pathologists regularly investigate the deaths of individuals with a history of drug abuse. Autopsy, including toxicology testing, reveals no cause for death in a subset of this cohort. Objective.—To determine whether deaths with an undetermined cause and manner of death are associated with a history of drug abuse. Design.—Retrospective matched case-control study of 52 decedents whose cause of death remained undetermined following autopsy, matched 1:2 to a control group of living patients admitted for cholecystectomy according to age and date of death or procedure. Results.—Individuals whose cause of death was undetermined were 5.3 times (95% confidence interval, 1.9– 14.5) more likely to have a history of drug abuse than were patients with cholecystitis. Conclusions.—Decedents with a history of chronic drug abuse appear to be at an increased risk of dying by their chronic drug abuse, even in the absence of any anatomical or toxicologic finding at autopsy to account for death.


2020 ◽  
Author(s):  
Zhimo Yao ◽  
Huanyun Yu ◽  
Junxiao Zhang ◽  
Bo Chen ◽  
Xinping Yu

Abstract Background: Adults with late-onset acute acquired concomitant esotropia (AACE) have chance to develop normal binocular functions including a balanced ocular dominance before the onset of esotropia. For most patients, strabismus surgery re-establishing the ocular alignment indeed effectively restore stereopsis and visual acuity to the normal level. However, it is unclear whether they have already acquired balanced two eyes.Methods: 11 surgically aligned patients with AACE (24.3 ± 1.5 years; mean ± SE) and 14 adults with normal vision (26.1±1.2 years) participated in our experiments. All patients had normal binocularity and stereopsis. Using binocular phase combination paradigm, sensory eye dominance was quantified as the interocular contrast ratio, termed balance point, at which the contribution of each eye to the perception of cyclopean grating were equal.Results: Normal controls had a mean balance point value close to unity (0.95±0.01), while AACE group exhibited evident binocular imbalance (0.76±0.05), which was significantly different from control group (t (10.45) = -3.485, p = 0.006) . The balance point value didn’t depend on the interval from AACE onset to strabismus surgery (r = -0.357, p = 0.281) or the interval from the surgery to examination of sensory eye dominance (r = -0.105, p = 0.759).Conclusions: Although strabismus surgery effectively straightened AACE patients’ ocular alignment and even conferred them normal stereopsis, late-onset AACE patients’ two eyes were still not balanced. These results indicated that binocular imbalance might be a risk factor for adult AACE.


1988 ◽  
Vol 16 (2) ◽  
pp. 153-158 ◽  
Author(s):  
Patricia D. Roth

This pilot study investigated the relationship of spiritual well-being (defined here as a well-integrated internal religious orientation) to marital adjustment. The subscale dimensions of satisfaction, cohesion, consensus, and affectual expression were used as indicators of adjustment as measured by Spanier's (1976) Dyadic Adjustment Scale. These scale scores were correlated with the religious, existential, and spiritual well-being scores from Paloutzian & Ellison's (1982) Spiritual Well-Being Scale. Subjects were 147 married individuals from churches in Southern California. Responses indicated that spiritual well-being correlated significantly to marital adjustment, with significant differences for years married: Those married 10–40 years showed a higher correlation than those married over 40 years. Existential well-being scores correlated highly with marital adjustment scores at most marital stages. This provides some support for the hypothesis that lived-out spirituality is an important factor in perception of marital happiness.


1987 ◽  
Vol 7 (3) ◽  
pp. 168-173 ◽  
Author(s):  
Mrinal K. Oasgupta ◽  
Kelvin B. Bettcher ◽  
Raymond A. Ulan ◽  
Valorie Burns ◽  
Kan Lam ◽  
...  

To examine the relationship of the formation of biofilm (adherent bacterial microcolonies) to recurrent peritonitis in patients on continuous ambulatory peritoneal dialysis (CAPO) we examined the surfaces of 25 recovered Tenckhoff (T) catheters by scanning electron microscopy (SEM) and microbiological examination of scrapings. Twelve catheters had been removed after successful transplantation; the patients had not been dialyzed for three months and had no evidence of peritonitis during that period (control group), and only seven had experienced peritonitis (I or 2 episodes) before transplantation. All 13 patients in the study group had experienced repeated episodes of peritonitis (range 3–13, average, 5.6). We detected no significant differences between the control and study groups with respect to the percentage of catheter-surface covered by biofilm, or the proportion of catheter segments whose scrapings yielded positive bacterial cultures. It is concluded that large areas of the T catheters of CAPO patients are colonized by bacterial biofilms but only active dialysis predisposes to recurrent peritonitis.


2015 ◽  
Vol 52 (1) ◽  
pp. 55-58 ◽  
Author(s):  
Sedat IŞIKAY ◽  
Nurgül IŞIKAY ◽  
Halil KOCAMAZ

Background Familial Mediterranean Fever and celiac disease are both related to auto-inflammation and/or auto-immunity and they share some common clinical features such as abdominal pain, diarrhea, bloating and flatulence. Objectives We aimed to determine the association of these two diseases, if present. Methods Totally 112 patients diagnosed with Familial Mediterranean Fever and 32 cases as healthy control were included in the study. All participants were examined for the evidence of celiac disease, with serum tissue transglutaminase IgA levels (tTG IgA). Results Totally 144 cases, 112 with Familial Mediterranean Fever and 32 healthy control cases were included in the study. tTG IgA positivity was determined in three cases with Familial Mediterranean Fever and in one case in control group. In that aspect there was no significant difference regarding the tTG IgA positivity between groups (P=0.81). Duodenum biopsy was performed to the tTG IgA positive cases and revealed Marsh Type 3b in two Familial Mediterranean Fever cases and Marsh Type 3c in the other one while the biopsy results were of the only tTG IgA positive case in control group was Marsh Type 3b. In HLA evaluation of the celiac cases; HLA DQ2 was present in two celiac cases of the Familial Mediterranean Fever group and in the only celiac case of the control group while HLA DQ8 was present in one celiac case of the Familial Mediterranean Fever group. Conclusions We did not determine an association of Familial Mediterranean Fever with celiac disease. Larger studies with subgroup analysis are warranted to determine the relationship of these two diseases.


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