Association of intronic polymorphisms (rs1549339, rs13402242) and mRNA expression variations in PSMD1 gene in arsenic-exposed workers

Saqiba Ahmad; Bushra Arif; Zertashia Akram; Malik Waqar Ahmed; Asad Ullah Khan; Muhammad Zahid Hussain; Faisal Rahman; Mahmood Akhtar Kayani; Ishrat Mahjabeen

doi:10.1007/s11356-019-07422-x

Association of intronic polymorphisms (rs1549339, rs13402242) and mRNA expression variations in PSMD1 gene in arsenic-exposed workers

Saqiba Ahmad
, Bushra Arif
, Zertashia Akram
, Malik Waqar Ahmed
, Asad Ullah Khan
, Muhammad Zahid Hussain
, Faisal Rahman
, Mahmood Akhtar Kayani
, Ishrat Mahjabeen

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

6 Scopus citations

Abstract

Ubiquitin-proteasome system (UPS) gene, PSMD1, is an important gene for neutralization of damaged and misfolded protein(s). The current study was designed to study the genetic and expression variations of PSMD1 gene as a consequence of arsenic exposure and its potential implications in arsenic induced diseases. In the present study, 250 blood samples of exposed industrial workers along with 250 controls were used. Initially, tetra amplification refractory mutation system-PCR was used to determine the role of PSMD1 gene polymorphisms (rs1549339, rs13402242) in industrial workers and controls. Frequency of homozygous mutant genotype of rs1549339 (OR: 2.23, 95% CI: 1.51–3.32, p = 0.0001) and rs13402242 (OR: 2.96, 95% CI: 1.52–5.75, p = 0.001) was observed significantly higher in exposed individuals vs controls. Secondly, qPCR was performed for expression analysis of PSMD1 gene. Significant down-regulated expression of PSMD1 gene (p < 0.0001) was observed vs controls, and this down-regulation was observed more pronounced in smokers (p < 0.0001) with maximum exposure duration (p < 0.0008). This down-regulated expression was observed significantly more pronounced in welding (p < 0.004) and brick kiln industries (p < 0.04) compared to other selected industries. The obtained results suggest that the exposure to arsenic may have an increased risk of developing disease(s) because of arsenic-induced PSMD1 variations.

Original language	English (US)
Pages (from-to)	11425-11437
Number of pages	13
Journal	Environmental Science and Pollution Research
Volume	27
Issue number	10
DOIs	https://doi.org/10.1007/s11356-019-07422-x
State	Published - Apr 1 2020
Externally published	Yes

Bibliographical note

Funding Information:
The authors acknowledge the financial and infrastructural support from the Higher Education Commission (HEC) and the COMSATS University Islamabad (CUI). The authors are thankful to the industrial workers and control individuals for the blood samples collections.

Funding Information:
The authors acknowledge the financial and infrastructural support from the Higher Education Commission (HEC) and the COMSATS University Islamabad (CUI). The authors are thankful to the industrial workers and control individuals for the blood samples collections.

Publisher Copyright:
© 2020, Springer-Verlag GmbH Germany, part of Springer Nature.

UN SDGs

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

SDG 3 Good Health and Well-being

Keywords

26S proteasome non-ATPase regulatory subunit 1
Expression variations
Genetic polymorphisms
Industrial workers
Tetra-ARM-PCR

Publisher link

10.1007/s11356-019-07422-x

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Ahmad, S., Arif, B., Akram, Z., Ahmed, M. W., Khan, A. U., Hussain, M. Z., Rahman, F., Kayani, M. A., & Mahjabeen, I. (2020). Association of intronic polymorphisms (rs1549339, rs13402242) and mRNA expression variations in PSMD1 gene in arsenic-exposed workers. Environmental Science and Pollution Research, 27(10), 11425-11437. https://doi.org/10.1007/s11356-019-07422-x

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title = "Association of intronic polymorphisms (rs1549339, rs13402242) and mRNA expression variations in PSMD1 gene in arsenic-exposed workers",

abstract = "Ubiquitin-proteasome system (UPS) gene, PSMD1, is an important gene for neutralization of damaged and misfolded protein(s). The current study was designed to study the genetic and expression variations of PSMD1 gene as a consequence of arsenic exposure and its potential implications in arsenic induced diseases. In the present study, 250 blood samples of exposed industrial workers along with 250 controls were used. Initially, tetra amplification refractory mutation system-PCR was used to determine the role of PSMD1 gene polymorphisms (rs1549339, rs13402242) in industrial workers and controls. Frequency of homozygous mutant genotype of rs1549339 (OR: 2.23, 95\% CI: 1.51{\textendash}3.32, p = 0.0001) and rs13402242 (OR: 2.96, 95\% CI: 1.52{\textendash}5.75, p = 0.001) was observed significantly higher in exposed individuals vs controls. Secondly, qPCR was performed for expression analysis of PSMD1 gene. Significant down-regulated expression of PSMD1 gene (p < 0.0001) was observed vs controls, and this down-regulation was observed more pronounced in smokers (p < 0.0001) with maximum exposure duration (p < 0.0008). This down-regulated expression was observed significantly more pronounced in welding (p < 0.004) and brick kiln industries (p < 0.04) compared to other selected industries. The obtained results suggest that the exposure to arsenic may have an increased risk of developing disease(s) because of arsenic-induced PSMD1 variations.",

keywords = "26S proteasome non-ATPase regulatory subunit 1, Expression variations, Genetic polymorphisms, Industrial workers, Tetra-ARM-PCR",

author = "Saqiba Ahmad and Bushra Arif and Zertashia Akram and Ahmed, \{Malik Waqar\} and Khan, \{Asad Ullah\} and Hussain, \{Muhammad Zahid\} and Faisal Rahman and Kayani, \{Mahmood Akhtar\} and Ishrat Mahjabeen",

note = "Funding Information: The authors acknowledge the financial and infrastructural support from the Higher Education Commission (HEC) and the COMSATS University Islamabad (CUI). The authors are thankful to the industrial workers and control individuals for the blood samples collections. Funding Information: The authors acknowledge the financial and infrastructural support from the Higher Education Commission (HEC) and the COMSATS University Islamabad (CUI). The authors are thankful to the industrial workers and control individuals for the blood samples collections. Publisher Copyright: {\textcopyright} 2020, Springer-Verlag GmbH Germany, part of Springer Nature.",

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AU - Ahmed, Malik Waqar

AU - Khan, Asad Ullah

AU - Hussain, Muhammad Zahid

AU - Rahman, Faisal

AU - Kayani, Mahmood Akhtar

AU - Mahjabeen, Ishrat

N1 - Funding Information: The authors acknowledge the financial and infrastructural support from the Higher Education Commission (HEC) and the COMSATS University Islamabad (CUI). The authors are thankful to the industrial workers and control individuals for the blood samples collections. Funding Information: The authors acknowledge the financial and infrastructural support from the Higher Education Commission (HEC) and the COMSATS University Islamabad (CUI). The authors are thankful to the industrial workers and control individuals for the blood samples collections. Publisher Copyright: © 2020, Springer-Verlag GmbH Germany, part of Springer Nature.

PY - 2020/4/1

Y1 - 2020/4/1

N2 - Ubiquitin-proteasome system (UPS) gene, PSMD1, is an important gene for neutralization of damaged and misfolded protein(s). The current study was designed to study the genetic and expression variations of PSMD1 gene as a consequence of arsenic exposure and its potential implications in arsenic induced diseases. In the present study, 250 blood samples of exposed industrial workers along with 250 controls were used. Initially, tetra amplification refractory mutation system-PCR was used to determine the role of PSMD1 gene polymorphisms (rs1549339, rs13402242) in industrial workers and controls. Frequency of homozygous mutant genotype of rs1549339 (OR: 2.23, 95% CI: 1.51–3.32, p = 0.0001) and rs13402242 (OR: 2.96, 95% CI: 1.52–5.75, p = 0.001) was observed significantly higher in exposed individuals vs controls. Secondly, qPCR was performed for expression analysis of PSMD1 gene. Significant down-regulated expression of PSMD1 gene (p < 0.0001) was observed vs controls, and this down-regulation was observed more pronounced in smokers (p < 0.0001) with maximum exposure duration (p < 0.0008). This down-regulated expression was observed significantly more pronounced in welding (p < 0.004) and brick kiln industries (p < 0.04) compared to other selected industries. The obtained results suggest that the exposure to arsenic may have an increased risk of developing disease(s) because of arsenic-induced PSMD1 variations.

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KW - 26S proteasome non-ATPase regulatory subunit 1

KW - Expression variations

KW - Genetic polymorphisms

KW - Industrial workers

KW - Tetra-ARM-PCR

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EP - 11437

JO - Environmental Science and Pollution Research

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ER -

Association of intronic polymorphisms (rs1549339, rs13402242) and mRNA expression variations in PSMD1 gene in arsenic-exposed workers

Abstract

Bibliographical note

UN SDGs

Keywords

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