scholarly journals Potential Association of Mitochondrial Haplogroups and A8860G Mutation with Breast Cancer Risk

2021 ◽  
Author(s):  
Han N. Mohammed Fadhl ◽  
Farhad M. Abdulkarim
Keyword(s):  
Breast Cancer ◽  
Risk Factor ◽  
Nucleotide Polymorphism ◽  
Chi Square ◽  
Single Nucleotide ◽  
P Values ◽  
Exact Test ◽  
Mtdna Mutations ◽  
Potential Association ◽  
Entire Mitochondrial Genome

AbstractThe last decade has witnessed great progresses regarding the molecular basis of breast cancer with discovery of different nuclear susceptibility genes; in addition investigations and researches regarding mitochondrial DNA (mtDNA) mutations in breast cancer have been started. Mitochondrial haplogroup determinants (single nucleotide polymorphism SNP) and somatic mitochondrial mutations have recently been studied as possible risk factors for carcinogenic processes in different tissues, hence in order to identify breast cancer related SNPs and haplogroups among the population of Sulaimaniyah city/Iraq, the entire mitochondrial genome of 20-breast cancer samples and comparable controls were sequenced. Haplogrep 2.0 was used for haplogroup identification; Chi-square and Fishers exact test were applied to assess relational significance. HV haplogroup in the cancer samples appeared to be a risk factor for breast cancer compared to the most common H haplogroup in control samples with a p-values of 0.002 and 0.006 respectively and an Odd Ratio (OR) = 28.00. Besides, SNP (A8860G) was also identified as a risk factor for breast cancer as compared to other randomly selected SNPs (A750G, A1438G and C7028T) with p values □0.05 and OR >1.

CCL2 −2518 A/G single nucleotide polymorphism as a risk factor for breast cancer

2010 ◽  
Vol 38 (2) ◽  
pp. 1263-1267 ◽  
Author(s):  
Łukasz Kruszyna ◽  
Margarita Lianeri ◽  
Błażej Rubis ◽  
Hanna Knuła ◽  
Maria Rybczyńska ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphism ◽  
Risk Factor ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals Age as an Independent Factor in the Permanent Chemotherapy-Induced Amenorrhea Incidence in Breast Cancer Patients at Dr. Moewardi Hospital, Surakarta, Indonesia

2021 ◽  
Vol 9 (B) ◽  
pp. 816-820
Author(s):  
Mudib Mudib ◽  
Kristanto Yuli Yarso ◽  
Henky Agung Nugroho
Keyword(s):  
Breast Cancer ◽  
Multivariate Analysis ◽  
Risk Factor ◽  
Cancer Patients ◽  
The Other ◽  
Common Side Effect ◽  
Breast Cancer Patients ◽  
Chi Square ◽  
Premenopausal Breast Cancer ◽  
Exact Test

Background: Chemotherapy Induced Amenorrhea (CIA) is one common side effect of chemotherapy in breast cancer patients. Some who have CIA may experience menstruation return while others experience permanent CIA. Aim: to examines the factors that contribute to the incidence of persistent CIA in breast cancer patients. Methods: The population of this retrospective study was new breast cancer patients with premenopausal status when they started receiving chemotherapy at dr Moewardi Hospital Surakarta, Indonesia, from January 2019 to July 2021. To determine the relationship, the chi-square/Fisher’s exact test was performed. Risk factor analysis on the incidence of permanent CIA was carried out by using a bivariate logistic regression test, followed by multivariate analysis. Results: A number of 105 premenopausal breast cancer patients who received chemotherapy were found. Of these patients, 97 (93.38%) patients experienced CIA and 8 patients (6.62%) continued to menstruate. Of all the subjects having CIA, 49 patients (46.67%) menstruated again while the other 48 (45.71%) had persistent CIA.  Age factor has a significant relationship with the incidence of permanent CIA (p =< 0.001), where patients aged > 45 years tend to have permanent CIA incidence with a proportion of 42 patients (87.5%) (p < 0.05). The multivariate analysis showed that age > 45 years (OR = 75.117; 95% CI = 12.671-445.311; p = < 0.001) was the most dominant risk factor associated with the incidence of permanent CIA, while other variables as risk factors for permanent CIA based on multivariate analysis were Stage III (R = 6.677; 95% CI = 1.370-32,545; p = 0.019) compared to stages I and II, and BMI in the normal category (OR = 5.485; 95% CI = 1.083-27.786; p = 0.040) compared to excess BMI. The other variables were not found to be associated with the incidence of permanent CIA. Conclusion: Age is a major factor associated with permanent CIA incidence. Other factors related to this study are staging and BMI.   Keywords: Age, Permanent, Chemotherapy Induced Amenorrhea, Breast Cancer

scholarly journals Synergistic effect of genetic polymorphisms in TLR6 and TLR10 genes on the risk of pulmonary tuberculosis in a Moldavian population

2021 ◽  
pp. 175342592110299
Author(s):  
Alexander Varzari ◽  
Igor V. Deyneko ◽  
Elena Tudor ◽  
Harald Grallert ◽  
Thomas Illig
Keyword(s):  
Pulmonary Tuberculosis ◽  
Interaction Analysis ◽  
P Value ◽  
Fisher Exact Test ◽  
Snp Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Exact Test ◽  
Pulmonary Tb ◽  
The Republic

Polymorphisms in genes that control immune function and regulation may influence susceptibility to pulmonary tuberculosis (TB). In this study, 14 polymorphisms in 12 key genes involved in the immune response ( VDR, MR1, TLR1, TLR2, TLR10, SLC11A1, IL1B, IL10, IFNG, TNF, IRAK1, and FOXP3) were tested for their association with pulmonary TB in 271 patients with TB and 251 community-matched controls from the Republic of Moldova. In addition, gene–gene interactions involved in TB susceptibility were analyzed for a total of 43 genetic loci. Single nucleotide polymorphism (SNP) analysis revealed a nominal association between TNF rs1800629 and pulmonary TB (Fisher exact test P = 0.01843). In the pairwise interaction analysis, the combination of the genotypes TLR6 rs5743810 GA and TLR10 rs11096957 GT was significantly associated with an increased genetic risk of pulmonary TB (OR = 2.48, 95% CI = 1.62–3.85; Fisher exact test P value = 1.5 × 10−5, significant after Bonferroni correction). In conclusion, the TLR6 rs5743810 and TLR10 rs11096957 two-locus interaction confers a significantly higher risk for pulmonary TB; due to its high frequency in the population, this SNP combination may serve as a novel biomarker for predicting TB susceptibility.

Association between tumor mutational burden (TMB) and immune-related adverse events (irAEs) in patients (pts) with metastatic urothelial carcinoma (mUC) during checkpoint immunotherapy.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 489-489
Author(s):  
Elie W. Akl ◽  
Pier Vitale Nuzzo ◽  
Elio Adib ◽  
Amin Nassar ◽  
Sarah Abou Alaiwi ◽  
...  
Keyword(s):  
Sequencing Data ◽  
Chi Square ◽  
P Values ◽  
Exact Test ◽  
Radiological Data ◽  
Tumor Mutational Burden ◽  
Chi Square Test ◽  
Metastatic Urothelial Carcinoma ◽  
Multivariable Regression ◽  
The Relationship

489 Background: Immune checkpoint inhibition (ICI) has greatly improved clinical outcomes for pts with mUC and other cancers. ICI is associated with a class of AEs, deemed irAEs due to immune activation. Nonetheless, biomarkers associated with irAE are still lacking. We hypothesized that the immune response against neoantigens is partly responsible for irAEs and investigated the association between irAEs, TMB and response to ICI. Methods: We identified patients with mUC at Dana Farber Cancer Institute who were treated with ICI (monotherapy or combination) and had available tumor sequencing data through Oncopanel. TMB was calculated using the number of non-synonymous exonic mutations per megabase. The severity of irAEs was graded using CTCAE v.5.0. Mann-Whitney U test was performed to identify association between TMB, incidence and grade of irAEs. A cut-off of 10/mb was assigned for TMB. Fisher’s exact test was used to evaluate the radiologic response between pts with and without irAEs and low vs. high TMB. Multivariable linear regression was used to assess the relationship between TMB, irAEs and response. p-values were adjusted using Benjamini-Hochberg method. Results: Of 101 pts with mUC who met the inclusion criteria, 32 (32%) reported irAEs. 6 (6%) were grade (G)1, 20 (20%) were G2, and 6 (6%) were G3. Median(m) time on therapy was 84 days for pts without irAEs and 88 days for pts with irAEs. Pts with irAEs had higher mTMB (15.4/mb) compared to pts with no irAEs (9.8) ( p = 0.01). In pts on monotherapy (93), those with irAEs (n=27) had a higher mTMB (15.13/mb) compared to pts with no irAEs (n=66) (mTMB = 10.20/mb) ( p = 0.01). Out of 94 pts with radiological data, response was achieved in 16 (50%) pts with irAE vs 10 (16%) pts with no irAE ( p < 0.001). When both irAE and response were included in a multivariable regression, the association between irAE and TMB was not significant ( p = 0.4). Pts with both irAE and high TMB had a response rate of 56% which was significantly higher than those with either irAE but low TMB (28.6%) or high TMB but no irAE (21.2 %) or low TMB and no irAE (10.3%) (Chi-square test p = 0.002; FDR corrected p-values for individual comparisons in Table). There was no association between TMB and irAE grade. Conclusions: Higher TMB was associated with higher incidence of irAEs in pts with mUC on ICIs. Moreover, pts with both high TMB and irAEs exhibited better response rates than those with only high TMB or irAEs, suggesting that they may provide complementary tumor and host characteristics. Further evaluation in mUC is needed to confirm this relationship between TMB, irAEs and response in a larger cohort and explore specific mutational signatures that may be associated with irAEs. [Table: see text]

scholarly journals A miRNA Binding Site Single-Nucleotide Polymorphism in the 3′-UTR Region of the IL23R Gene Is Associated with Breast Cancer

PLoS ONE ◽  
2012 ◽  
Vol 7 (12) ◽  
pp. e49823 ◽  
Author(s):  
Lihong Wang ◽  
Wei Liu ◽  
Wei Jiang ◽  
Jing Lin ◽  
Yongdong Jiang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphism ◽  
Binding Site ◽  
Mirna Binding Site ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Influence of single nucleotide polymorphism in IL-27 and IL-33 genes on breast cancer

2018 ◽  
Vol 76 (2) ◽  
pp. 89-91 ◽  
Author(s):  
N Fathi Maroufi ◽  
M Gholampour Matin ◽  
N Ghanbari ◽  
A Khorrami ◽  
Z Amini ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphism ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals Avaliação das Variantes Genéticas dos Genes AMELX e ENAM na Cárie Dentária em Adolescentes

2021 ◽  
Vol 24 (5-esp.) ◽  
pp. 650-654
Author(s):  
Gabriela Paschoalini Romagni ◽  
Paula Marino Costa ◽  
Sandra Mara Maciel ◽  
Maria Paula Jacobucci ◽  
Regina Célia Poli-Frederico
Keyword(s):  
Genetic Component ◽  
World Health ◽  
Caries Experience ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Significance Level ◽  
Exact Test ◽  
Polymerase Chain ◽  
Health Organization

A doença cárie é considerada, atualmente, como biofilme sacarose dependente, entretanto, estudos recentes apontam que fatores genéticos também podem influenciar seu desenvolvimento. Variantes nos gene amelogenina (AMELX) e enamelina (ENAM), responsáveis pela formação do esmalte, têm sido propostas como potencialmente envolvidos na doença. O objetivo deste estudo foi avaliar se a ocorrência de cárie dentária em adolescentes está relacionado às variantes nos genes AMELX e ENAM. Para a avaliação da prevalência de cárie foi utilizado o índice de dentes cariados, perdidos e obturados (CPO-D), segundo critérios da Organização Mundial de Saúde. As amostras de DNA foram extraídas das células da mucosa oral. Para a análise dos polimorfismos de nucleotídeo único (SNPs) dos genes AMELX (rs17878486) e ENAM (rs7671281) foi utilizada  a técnica de amplificação de fragmentos de DNA pela reação em cadeia da polimerase foi realizada (PCR) em tempo real pelo sistema TaqMan (Applied Biosystems, Foster City, EUA). Para a análise estatística, foi utilizado o teste exato de Fisher e qui-quadrado com nível de significância de 5%. Apenas os fatores socioeconômicos influenciaram a experiência de cárie. Concluiu-se que o componente genético, na população deste estudo, não influenciou o desenvolvimento da cárie.   Palavras-chave: Polimorfismo genético. Adolescentes. Esmalte.   Abstract Caries disease is currently considered a sucrose-dependent biofilm, however recent studies indicate that a genetic component can also influence its development. Variants in the amelogenin (AMELX) and enamelin (ENAM) genes, responsible for the enamel formation, have been proposed as potentially involved in the disease. The purpose of this study was to evaluate whether the occurrence of dental caries in adolescents is related to variants in the AMELX and ENAM genes. To assess the caries prevalence, the index of decayed, missing and filled teeth (DMFT) were used, according to World Health Organization criteria. DNA samples were extracted from oral mucosa cells. For the analysis of single nucleotide polymorphisms (SNPs) of the AMELX (rs17878486) and ENAM (rs7671281) genes, the amplifying DNA fragments technique  by the polymerase chain reaction was performed (PCR) in real time by the TaqMan system (Applied Biosystems, Foster City, USA). For the statistical analysis, Fisher's exact test and chi-square were used with a 5% significance level. Only socioeconomic factors influenced the caries experience. It was concluded that the genetic component in the population of this study, did not influence the development of caries.   Keywords: Genetic polymorphism. Adolescents. Enamel.

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