scholarly journals A single-nucleotide polymorphism of the beta 2-adrenergic receptor gene can predict pathological complete response to taxane- and platinum-based neoadjuvant chemotherapy in breast cancer

2018 ◽  
Vol Volume 10 ◽  
pp. 201-206
Author(s):  
Yueyao Du ◽  
Tingting Yan ◽  
Liheng Zhou ◽  
Wenjin Yin ◽  
Jinsong Lu
2001 ◽  
Vol 308 (1-2) ◽  
pp. 17-24 ◽  
Author(s):  
Hong Yu ◽  
Barbara Merchant ◽  
Christi Scheffel ◽  
Chandri Yandava ◽  
Jeffrey M. Drazen ◽  
...  

2020 ◽  
Vol 35 (3) ◽  
pp. 38-49
Author(s):  
Jinglu Lu* ◽  
Ziping Wu* ◽  
Jing Peng ◽  
Shuguang Xu ◽  
Liheng Zhou ◽  
...  

Objective We aimed to determine whether single nucleotide polymorphisms in the PD-L1 gene are related to the response and adverse events of patients receiving neoadjuvant therapy and to explore the mechanism. Methods Nine single nucleotide polymorphisms of PD-L1 were selected and tested among patients before neoadjuvant therapy. Four models were used in single nucleotide polymorphism genotype analysis: the addictive model compared TT vs TA vs AA; the dominant model compared TT vs TA+AA; the recessive model compared TT+TA vs AA; and the over-dominant model compared TT+AA vs TA (A as the minor allele). We analyzed the associations between single nucleotide polymorphism genotypes and pathological complete response, disease-free survival, and adverse events. Overexpression of the targeted microRNA was carried out using microRNA mimics. Logistic regression was used to analyze the associations between different single nucleotide polymorphism genotypes and pathological complete response outcome. Kaplan–Meier plots and log-rank tests were used to compare disease-free survival between groups with different single nucleotide polymorphism genotypes. The Cox proportional hazards model was used to calculate the adjusted hazard ratio. The Spearman's correlation test was used to determine the correlations between different genotypes and adverse events. Results rs4143815C>G was associated with better pathological complete response in the addictive and over-dominant models and with poorer disease-free survival in the recessive model. Patients with different genotypes had different adverse events. Overexpression of miR34c resulted in the downregulation of PD-L1 mRNA expression. Conclusion The PD-L1 single nucleotide polymorphism rs4143815 was associated with the pathological complete response rate, disease-free survival, and adverse events in breast cancer patients receiving neoadjuvant therapy. The interaction between miR34c and PD-L1 might be affected by rs4143815.


2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 1113-1113
Author(s):  
X. Yingchun ◽  
F. Zhang ◽  
H. Wang ◽  
Y. Ma ◽  
L. Sun

1113 Objective: To explore the distribution of single nucleotide polymorphism (SNP) loci of estrogen receptor (ESR1) gene in breast cancer patients and to study the relationship between the SNP genotypes and the efficacy to endocrine therapy. Methods: Fifteen SNP loci ( rs872921 , rs2077647, rs3904766, rs2234693, rs11155816, rs827419 , rs2347867, rs3798759, rs1801132, rs985191 , rs9340931, rs9397463, rs722209 , rs3778099, and rs3798577) of ESR1 gene were selected as genetic markers. PCR-restriction fragment length polymorphisms, PCR-DNA sequencing and allele-specific real time PCR methods were employed to analyze the loci genotype of 240 patients with breast cancer accepted endocrine therapy. Results: The loci rs872921 and rs3904766 were abandoned for poor ploymorphisms, and the other 13 loci had polymorphisms. The frequencies of alleles and genotypes of rs2077647 and rs3798759 were significantly related with the efficacy of endocrine therapy (p < 0. 05). The linkage disequilibrium and the hapotype analysis showed that there were four linkage disequilibrium blocks in ESR1 gene. They were rs2077647∼rs2234693 (LD1), rs2234693∼rs11155816 (LD2), rs9397463∼ rs722209 (LD3), and rs3778099∼rs3798577 (LD4), and the hapotypes of LD2, LD3, s11155816- rs827419 , and rs2347867- rs1801132 were positively related with the efficacy of endocrine therapy (p < 0. 05). Conclusions: Some of the polymorphisms of ESR1 gene and the haplotypes are positively associated with the endocrine therapy efficacy, and maybe account for predicting the endocrine response in breast cancer. No significant financial relationships to disclose.


2013 ◽  
Vol 125 (4) ◽  
pp. 191-198 ◽  
Author(s):  
Kim Z. Rokamp ◽  
Jonatan M. Staalsoe ◽  
Martin Gartmann ◽  
Anna Sletgaard ◽  
Nicolai B. Nordsborg ◽  
...  

Variation in genes encoding the β2-adrenergic receptor (ADRB2) and angiotensin-converting enzyme (ACE) may influence Q̇ (cardiac output). The 46G>A (G16R) SNP (single nucleotide polymorphism) has been associated with β2-mediated vasodilation, but the effect of ADRB2 haplotypes on Q̇ has not been studied. Five SNPs within ADRB2 (46G>A, 79C>G, 491C>T, 523C>A and 1053G>C by a pairwise tagging principle) and the I/D (insertion/deletion) polymorphism in ACE were genotyped in 143 subjects. Cardiovascular variables were evaluated by the Model flow method at rest and during incremental cycling exercise. Only the G16R polymorphism was associated with Q̇. In carriers of the Arg16 allele, Q̇rest (resting Q̇) was 0.4 [95% CI (confidence interval), 0.0–0.7] l/min lower than in G16G homozygotes (P=0.048). During exercise, the increase in Q̇ was by 4.7 (95% CI, 4.3–5.2) l/min per litre increase in pulmonary V̇O2 (oxygen uptake) in G16G subjects, but the increase was 0.5 (0.0–0.9) l/min lower in Arg16 carriers (P=0.035). A similar effect size was observed for the Arg16 haplotypes ACCCG and ACCCC. No interaction was found between ADRB2 and ACE polymorphisms. During exercise, the increase in Q̇ was 0.5 (CI, 0.0 –1.0) l/min greater in ACE I/I carriers compared with I/D and D/D subjects (P=0.054). In conclusion, the ADRB2 Arg16 allele in humans is associated with a lower Q̇ both at rest and during exercise, overriding the effects of haplotypes.


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