The Impact of CASP8 rs10931936 and rs1045485 Polymorphisms as well as the Haplotypes on Breast Cancer Risk: A Case-Control Study

Elham Vahednia; Fatemeh Homaei Shandiz; Matineh Barati Bagherabad; Atefeh Moezzi; Fahimeh Afzaljavan; Amir Tajbakhsh; Mohammad Mahdi Kooshyar; Alireza Pasdar

doi:10.1016/j.clbc.2019.02.011

The Impact of CASP8 rs10931936 and rs1045485 Polymorphisms as well as the Haplotypes on Breast Cancer Risk: A Case-Control Study

Elham Vahednia, Fatemeh Homaei Shandiz, Matineh Barati Bagherabad, Atefeh Moezzi, Fahimeh Afzaljavan, Amir Tajbakhsh, Mohammad Mahdi Kooshyar^* (Corresponding Author), Alireza Pasdar^* (Corresponding Author)

^*Corresponding author for this work

Applied Medicine

Mashhad University of Medical Sciences

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

Abstract

To investigate the association of rs1045485 and rs10931936 in caspase 8 (CASP8) and their haplotypes with molecular profile as well as breast cancer in Iran, 287 breast cancer patients and 490 healthy women were genotype using the amplification refractory mutation system and polymerase chain reaction restriction fragment length polymorphism. Results indicated a protective effect for CC genotype of rs1045485 and the decrease risk of breast cancer for C-C haplotype of rs10931936-rs104548 in CASP8.

Introduction: 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. Materials and Method: 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). Results: 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], 1.04-8.26). 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). Conclusion: 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. (C) 2019 Elsevier Inc. All rights reserved.

Original language	English
Pages (from-to)	E563-E577
Number of pages	15
Journal	Clinical Breast Cancer
Volume	19
Issue number	5
Early online date	31 May 2019
DOIs	https://doi.org/10.1016/j.clbc.2019.02.011
Publication status	Published - Oct 2019

Bibliographical note

The authors thank all participants in this research. We also thank Mashhad University of Medical Sciences and Omid hospital for their support of the project.

This work was financially supported by Mashhad University of Medical Sciences under Grant 931185.

Data Availability Statement

Supplemental figures accompanying this article can be found in
the online version at https://doi.org/10.1016/j.clbc.2019.02.011.

Keywords

Association studies
Breast neoplasm
Genetic risk factors
Genetic variations
Haplotype analysis
GENOME-WIDE ASSOCIATION
COMMON VARIANT
REDUCED RISK
RECONSTRUCTION
SUSCEPTIBILITY
IDENTIFICATION
GENE

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Cite this

@article{b7fe0c1fc1b74466b492213d3c01d59b,

title = "The Impact of CASP8 rs10931936 and rs1045485 Polymorphisms as well as the Haplotypes on Breast Cancer Risk: A Case-Control Study",

abstract = "To investigate the association of rs1045485 and rs10931936 in caspase 8 (CASP8) and their haplotypes with molecular profile as well as breast cancer in Iran, 287 breast cancer patients and 490 healthy women were genotype using the amplification refractory mutation system and polymerase chain reaction restriction fragment length polymorphism. Results indicated a protective effect for CC genotype of rs1045485 and the decrease risk of breast cancer for C-C haplotype of rs10931936-rs104548 in CASP8.Introduction: 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. Materials and Method: 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). Results: 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], 1.04-8.26). 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). Conclusion: 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. (C) 2019 Elsevier Inc. All rights reserved.",

keywords = "Association studies, Breast neoplasm, Genetic risk factors, Genetic variations, Haplotype analysis, GENOME-WIDE ASSOCIATION, COMMON VARIANT, REDUCED RISK, RECONSTRUCTION, SUSCEPTIBILITY, IDENTIFICATION, GENE",

author = "Elham Vahednia and Shandiz, {Fatemeh Homaei} and Bagherabad, {Matineh Barati} and Atefeh Moezzi and Fahimeh Afzaljavan and Amir Tajbakhsh and Kooshyar, {Mohammad Mahdi} and Alireza Pasdar",

note = "The authors thank all participants in this research. We also thank Mashhad University of Medical Sciences and Omid hospital for their support of the project. This work was financially supported by Mashhad University of Medical Sciences under Grant 931185.",

year = "2019",

month = oct,

doi = "10.1016/j.clbc.2019.02.011",

language = "English",

volume = "19",

pages = "E563--E577",

journal = "Clinical Breast Cancer",

issn = "1526-8209",

publisher = "Elsevier",

number = "5",

}

TY - JOUR

T1 - The Impact of CASP8 rs10931936 and rs1045485 Polymorphisms as well as the Haplotypes on Breast Cancer Risk

T2 - A Case-Control Study

AU - Vahednia, Elham

AU - Shandiz, Fatemeh Homaei

AU - Bagherabad, Matineh Barati

AU - Moezzi, Atefeh

AU - Afzaljavan, Fahimeh

AU - Tajbakhsh, Amir

AU - Kooshyar, Mohammad Mahdi

AU - Pasdar, Alireza

N1 - The authors thank all participants in this research. We also thank Mashhad University of Medical Sciences and Omid hospital for their support of the project. This work was financially supported by Mashhad University of Medical Sciences under Grant 931185.

PY - 2019/10

Y1 - 2019/10

N2 - To investigate the association of rs1045485 and rs10931936 in caspase 8 (CASP8) and their haplotypes with molecular profile as well as breast cancer in Iran, 287 breast cancer patients and 490 healthy women were genotype using the amplification refractory mutation system and polymerase chain reaction restriction fragment length polymorphism. Results indicated a protective effect for CC genotype of rs1045485 and the decrease risk of breast cancer for C-C haplotype of rs10931936-rs104548 in CASP8.Introduction: 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. Materials and Method: 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). Results: 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], 1.04-8.26). 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). Conclusion: 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. (C) 2019 Elsevier Inc. All rights reserved.

AB - To investigate the association of rs1045485 and rs10931936 in caspase 8 (CASP8) and their haplotypes with molecular profile as well as breast cancer in Iran, 287 breast cancer patients and 490 healthy women were genotype using the amplification refractory mutation system and polymerase chain reaction restriction fragment length polymorphism. Results indicated a protective effect for CC genotype of rs1045485 and the decrease risk of breast cancer for C-C haplotype of rs10931936-rs104548 in CASP8.Introduction: 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. Materials and Method: 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). Results: 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], 1.04-8.26). 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). Conclusion: 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. (C) 2019 Elsevier Inc. All rights reserved.

KW - Association studies

KW - Breast neoplasm

KW - Genetic risk factors

KW - Genetic variations

KW - Haplotype analysis

KW - GENOME-WIDE ASSOCIATION

KW - COMMON VARIANT

KW - REDUCED RISK

KW - RECONSTRUCTION

KW - SUSCEPTIBILITY

KW - IDENTIFICATION

KW - GENE

U2 - 10.1016/j.clbc.2019.02.011

DO - 10.1016/j.clbc.2019.02.011

M3 - Article

SN - 1526-8209

VL - 19

SP - E563-E577

JO - Clinical Breast Cancer

JF - Clinical Breast Cancer

IS - 5

ER -

The Impact of CASP8 rs10931936 and rs1045485 Polymorphisms as well as the Haplotypes on Breast Cancer Risk: A Case-Control Study

Abstract

Bibliographical note

Data Availability Statement

Keywords

UN SDGs

Access to Document

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