scholarly journals Association of a Novel KIF26B Gene Polymorphism with Susceptibility to Schizophrenia and Breast Cancer: A Case-Control Study

Author(s):  
Saman SARGAZI ◽  
Milad HEIDARI NIA ◽  
Shekoufeh MIRINEJAD ◽  
Mahdiyeh MOUDI ◽  
Mahdiyeh JAFARI SHAHROUDI ◽  
...  

Background: KIF26B gene is found to play essential roles in regulating different aspects of cell proliferation and development of the nervous system. We aimed to determine if rs12407427 T/C polymorphism could affect susceptibility to schizophrenia (SZN) and breast cancer (BC), the two genetically correlated diseases. Methods: The current case-control study was performed from Aug 2018 to Dec 2018. Briefly, 159 female pathologically confirmed BC cases referring to Alzahra Hospital, Isfahan, Iran, and 102 psychologically confirmed SZN patients (60 males and 42 females) admitted to Baharan Hospital, Zahedan, Iran, were enrolled. Using the salting-out method, genomic DNA was extracted, and variants were genotyped using allele-specific amplification refractory mutation system polymerase chain reaction (ARMS-PCR) method. Results: The results revealed a significant association between the KIF26B rs12407427 codominant CT (P=0.001), CC (P=0.0001), dominant CT+CC, and recessive CC (P=0.001) genotypes with the risk of developing SZN. Significant correlations were also found regarding rs12407427 and BC susceptibility in different inheritance models, including over-dominant CT (P=0.026), dominant CT+CC (P=0.001), recessive CC (P=0.009), and codominant CT and CC (P=0.001) genotypes. The over-presence of the C allele was also correlated with an increased risk for SZN (P=0.0001) and BC (P=0.0001). Finally, computational analysis predicted that T/C variation in this polymorphism could change the binding sites in proteins involved in splicing. Conclusion: rs12407427 T/C as a de novo KIF26B variant might be a novel genetic biomarker for SZN and/or BC susceptibility in a sample of the Iranian population.

2020 ◽  
Vol 12 (4) ◽  
pp. 303-306
Author(s):  
Najmeh Ramezanpour ◽  
Mahboobeh Nasiri ◽  
Omid Reza Akbarpour

Introduction: Myocardial infarction (MI) is the leading cause of death all over the world. The pivotal roles of Phospholipase C like 2 gene (PLCL2) in calcium homeostasis and immune responses make this gene as a potential candidate for its role in MI pathogenesis. The present study was undertaken to investigate whether rs4618210A>G polymorphism in PLCL2 gene contribute to MI etiology. Methods: A hospital-based case-control study with 600 subjects, including 300 MI patients and 300controls, was conducted. Genotyping of PLCL2 rs4618210 polymorphism was performed using amplification refractory mutation system-polymerase chain reaction (ARMS PCR) method. Data were analyzed using logistic regression analysis. Results: No significant association was found between the PLCL2 rs4618210 alleles and MI risk.However, a significantly increased risk of MI was observed among carriers of the AG genotype (OR= 1.91; 95% CI = 1.24 - 2.93; P = 0.003) compared with AA homozygote. In a dominant mode of inheritance for G allele (GG + AG vs. AA), the frequency of the carriers of at least one G allele was higher in cases compared to controls (OR= 1.56; 95% CI: 1.03 – 2.36; P = 0.037). Conclusion: Our study provided further evidence that PLCL2 gene polymorphism may serve as a prognostic marker for MI.


2018 ◽  
Vol 19 (1) ◽  
pp. 56-60 ◽  
Author(s):  
Shih-Chang Hung ◽  
Kuan-Fu Liao ◽  
Hung-Chang Hung ◽  
Cheng-Li Lin ◽  
Po-Chang Lee ◽  
...  

2000 ◽  
Vol 3 (1) ◽  
pp. 11-18 ◽  
Author(s):  
Satu Männistö ◽  
Mikko Virtanen ◽  
Vesa Kataja ◽  
Matti Uusitupa ◽  
Pirjo Pietinen

AbstractObjectiveTo study the association between lifetime alcohol consumption and the risk of breast cancer.Design and settingA case–control study carried out in eastern Finland. Information about alcohol consumption was obtained by two methods: a self-administered food frequency questionnaire (FFQ) including alcohol consumption during the previous 12 months, and a lifetime alcohol consumption questionnaire (AQ) which was administered by the study nurse.SubjectsThe study consisted of 301 breast cancer cases (25–75 years old) and 443 population controls.ResultsThe subjects reported higher current alcohol consumption in the AQ compared to the FFQ. According to the AQ, premenopausal cases consumed on average 28 g and controls 24 g alcohol week−1; in postmenopausal women the values were 15 and 14 g, respectively. About 30% of premenopausal and 60% of postmenopausal women were classified as non-drinkers. The correlation for current alcohol consumption between the FFQ and the AQ was 0.80 in premenopausal women but only 0.40 in postmenopausal women. Current alcohol consumption seemed to influence the reporting of total lifetime alcohol consumption. Current alcohol consumption was not associated with the risk of breast cancer either in premenopausal or postmenopausal women; neither were associations found between alcohol consumption at age of first use, use before the age of 30, or total lifetime alcohol consumption and the risk of breast cancer.ConclusionsOn average, one to three drinks per week did not increase the risk of breast cancer in this study. Consumption levels were, however, too low to exclude increased risk with high regular consumption. Further research is necessary on lifetime alcohol consumption.


2021 ◽  
Author(s):  
Jiayi Zhang ◽  
Gang Wu ◽  
Hailong Zhu ◽  
Fengyuan Yang ◽  
Shuman Yang ◽  
...  

Abstract Background: The existing epidemiologic studies on the association between carnitine and breast cancer development are scarce. This study examined the association between circulating carnitine levels and breast cancer in females.Methods: This 1:1 age-matched case-control study identified 991 female breast cancer cases and 991 female controls without breast cancer. All cases and controls were confirmed with a pathological test. We measured 16 types of whole blood carnitine levels, such as free carnitine (C0) and octadecanoylcarnitine (C18), using targeted metabolomic technology. Results: The average age for cases and controls were 50.0 years (SD: 8.7 years) and 49.5 years (SD: 8.7 years), respectively. After adjusting for covariates, each SD increase in malonylcarnitine (C3DC; OR 0.91; 95% CI 0.83-1.00), decenoylcarnitine (C10:1; OR 0.87; 95% CI 0.79-0.96) and decadienoylcarnitine (C10:2; OR 0.90; 95% CI 0.82-0.99) level was associated with decreased odds of breast cancer. However, higher butyrylcarnitine (C4) levels were associated with increased risk of breast cancer (OR 1.12; 95% CI 1.02-1.23). We observed no relationship between other carnitines with breast cancer. The false discovery rates for C3DC, C4, C10:1 and C10:2 were 0.172, 0.120, 0.064 and 0.139, respectively. Conclusions: Higher levels of C3DC, C10:1, and C10:2 were protective factors for breast cancer, whereas increased C4 levels were a risk factor for breast cancer.


2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1520-1520
Author(s):  
Kanhua Yin ◽  
Danielle Braun ◽  
Ankur Tiwari ◽  
Jin Wang ◽  
Preeti Singh ◽  
...  

1520 Background: It is critical for oncologists to be aware of unbiased and interpretable cancer risks (i.e., penetrance) in carriers with germline pathogenic variants in cancer susceptibility genes. However, relevant literature is large and varies significantly in study design, patient ascertainment, and types of risk estimates reported. This heterogeneity can cause inconsistent conclusions between studies and create barriers for clinicians to understand and apply them in practice. To further understand the current literature, we assessed penetrance studies associated with non-BRCA breast cancer susceptibility genes based on study design and ascertainment adjustment. Methods: We used a validated natural language processing-based abstract classifier to identify all penetrance studies regarding eleven genes: ATM, BARD1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RECQL, STK11, and TP53. Relevant studies were then manually annotated as “with ascertainment adjustment” if a study was based on: (1) a general population; (2) a pedigree analysis or a family-based study with appropriate ascertainment adjustment; or (3) a hospital-based study or a panel testing analysis with well-matched cases and controls. Results: A total of 49 penetrance studies were identified, with a median of nine studies for each gene (range: 4-16). The case-control study was the dominant study type, accounting for over 80% in five genes, 50% in two genes, and 18% to 43% in the other four genes. The proportion of studies with ascertainment adjustment was generally low (mean: 33%) and varied widely between different genes (7% to 80%). Contradictory breast cancer risks (no increased risk vs. significantly increased risk) were found in eight genes (73%) (Table). The most common ascertainment bias identified was a case-control study with cases (patients) who had a strong family history but using general population controls. Conclusions: Ascertainment bias is common in penetrance studies, but few studies adjust for it appropriately. Clinicians should be aware of this issue, and new methods are warranted to select unbiased risk estimates, synthesize them, and provide the accurate general-population penetrance. [Table: see text]


2020 ◽  
Author(s):  
Anu Radha Sharma ◽  
Sourav Patagi ◽  
Abdul Razak UK ◽  
Ranjan Shetty ◽  
Shashikiran Umakanth ◽  
...  

Aim: The present study was conducted to decipher the inter-relationship of SNPs and miRNAs involved in pharmacogenomics of clopidogrel on predisposition to cardiovascular diseases (CVDs). Materials & methods: A case–control study was conducted on 410 cases and 386 controls to analyze the association of 13 mirSNPs on CVDs risk. Genotyping was performed by tetra-primer amplification refractory mutation system PCR and validated using Sanger DNA sequencing. miRNA expression analysis was performed using TaqMan assays. A meta-analysis was performed for PON1 rs662 with coronary artery disease. Results & conclusion: PON1 rs662, PON1 rs3917577, CYP3A5 rs15524, COL4A1 rs874204 and PTGIR rs1126510 polymorphisms showed association with CVDs. The miRNA hsa-miR-224-5p showed differential expression in the PON1 rs3917577 GG genotype. The meta-analysis showed the population-specific impact of PON1 rs662 on South Asian and Middle East populations.


2017 ◽  
Vol 117 (10) ◽  
pp. 1358-1367 ◽  
Author(s):  
Wu-Qing Huang ◽  
Xiong-Fei Mo ◽  
Yan-Bin Ye ◽  
Nitin Shivappa ◽  
Fang-Yu Lin ◽  
...  

AbstractPrevious studies have investigated the association between dietary inflammatory potential and the development of cancer. For breast cancer the results have been equivocal. The present study aimed to investigate whether higher Dietary Inflammatory IndexTM (DII) scores were associated with increased risk of breast cancer among Chinese women. A total of 867 cases and 824 controls were recruited into the present case–control study from September 2011 to February 2016. DII scores were computed based on baseline dietary intake assessed by a validated 81-item FFQ. The OR and 95 % CI were assessed by multivariable logistic regression after adjusting for various potential confounders. DII scores in this study ranged from −5·87 (most anti-inflammatory score) to +5·71 (most proinflammatory score). A higher DII score was associated with a higher breast cancer risk (adjusted ORquartile 4 v. 1 2·28; 95 % CI 1·71, 3·03; adjusted ORcontinuous 1·40; 95 %CI 1·25, 1·39). In stratified analyses, positive associations also were observed except for underweight women or women with either oestrogen receptor+ or progesterone receptor+ status (but not both). Results from this study indicated that higher DII scores, corresponding to more proinflammatory diets, were positively associated with breast cancer risk among Chinese women.


2016 ◽  
Vol 1 (2) ◽  
pp. 171-177 ◽  
Author(s):  
M. Gornitsky ◽  
A.M. Velly ◽  
S. Mohit ◽  
M. Almajed ◽  
H. Su ◽  
...  

Oxidative stress has been implicated in the pathogenesis of breast cancer (BC). To determine whether BC is associated with altered salivary redox homeostasis, we performed a case-control study assessing the relationship between BC and 8-oxo-7-hydrodeoxyguanosine (8-oxodG), a marker for oxidative damage to DNA. Enzyme-linked immunosorbent assay for 8-oxodG was used on whole, unstimulated saliva of 134 BC patients and 226 healthy controls. Associations of the redox data were assessed by analysis of variance and logistic regression analysis. Our results revealed that there were 1) significantly lower mean levels of salivary 8-oxodG in BC patients versus controls ( P = 0.0005), 2) significantly lower levels among participants who did not receive radiotherapy and/or chemotherapy as compared with controls ( P < 0.0001), 3) significantly lower levels among BC patients who did not receive these treatments than among those who did ( P < 0.02), 4) and no significant differences in mean 8-oxodG levels among BC patients positive or negative for estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 ( P ≥ 0.08). Our results suggest that BC is associated with decreased levels of oxidatively modified DNA in saliva. Knowledge Transfer Statement: The results of our current case-control study indicate that the molecular biomarker of oxidative stress 8-oxo-7-hydrodeoxyguanosine, measured from saliva, is associated with breast cancer. Our findings may provide the basis for future studies on molecular biomarkers of oxidative stress and breast cancer using saliva as an accessible and noninvasive tissue.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Somaye Rigi ◽  
Seyed Mohammad Mousavi ◽  
Sanaz Benisi-Kohansal ◽  
Leila Azadbakht ◽  
Ahmad Esmaillzadeh

AbstractLimited data are available, linking the plant-based diets to breast cancer (BC). We examined the association of overall plant-based diet index (PDI), hypothesized healthful (hPDI) and unhealthful versions of a plant-based diet index (uPDI) with BC in Iranian women. This population-based case–control study included 350 cases with newly diagnosed BC and 700 age-matched apparently healthy controls. We collected dietary data using a validated, Willett-format semi-quantitative food frequency questionnaire. Using these data, we generated a PDI by dedicating positive scores to plant foods, and reverse scores to animal foods, hPDI by assigning positive scores to healthy plant foods and reverse scores to less healthy plant foods and animal foods, and finally uPDI in which positive scores were assigned to less healthy plant foods and reverse scores to healthy plant foods and animal foods. After controlling for potential confounders, individuals in the highest quartile of PDI had 67% lower odds of BC than those in the lowest quartile (OR 0.33; 95% CI 0.22–0.50). Individuals with the greatest adherence to hPDI were 36% less likely to have BC than those with the lowest adherence, in the fully adjusted model (OR 0.64; 95% CI 0.43–0.94). In terms of uPDI, women in the top quartile had a 2.23 times greater chance of BC than those in the bottom quartile (OR 2.23; 95% CI 1.48–3.36). Greater adherence to PDI and hPDI was inversely associated with the risk of BC, whereas uPDI was associated with an increased risk.


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