Abstract
XRCC1 is involved in repair of single-strand breaks generated by mutagenic exposure. Polymorphisms within XRCC1 affect its ability to efficiently repair DNA damage. Polycyclic aromatic hydrocarbons or PAHs are genotoxic compounds which form bulky DNA adducts that are linked with infertility. Few reports suggest combined role of XRCC1 polymorphisms and PAHs in infertility. Present study investigates association of three XRCC1 polymorphisms (p.Arg194Trp, p.Arg280His, p.Arg399Gln) with male and female infertility in a North-West Indian population using case–control approach. Additionally, in silico approach has been used to predict whether XRCC1 polymorphisms effect interaction of XRCC1 with different PAHs. For case–control study, XRCC1 polymorphisms were screened in peripheral blood samples of age- and gender-matched 201 infertile cases (♂-100, ♀-101) and 201 fertile controls (♂-100, ♀-101) using PCR–RFLP method. For in silico study, AutoDock v4.2.6 was used for molecular docking of B[a]P, BPDE-I, ( ±)-anti-BPDE, DB[a,l]P, 1-N, 2-N, 1-OHP, 2-OHF with XRCC1 and assess effect of XRCC1 polymorphisms on their interaction. In case–control study, statistical analysis showed association of XRCC1 p.Arg280His GA genotype (p = 0.027), A allele (p = 0.019) with reduced risk of male infertility. XRCC1 p.Arg399Gln AA genotype (p = 0.021), A allele (p = 0.014) were associated with reduced risk for female primary infertility. XRCC1 p.Arg194Trp T allele was associated with increased risk for female infertility (p = 0.035). In silico analysis showed XRCC1–PAH interaction with non-significant effect of XRCC1 polymorphisms on predicted binding. Therefore, present study concludes that XRCC1 polymorphism-modified risk for male and female infertility in North-West Indians without significant effect on predicted XRCC1–PAH interactions. This is the first report on XRCC1 in female infertility.
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Data Availability
All data generated or analyzed during this study are included in this published article.
Abbreviations
- 1-N:
-
1-Hydroxynaphthalene
- 2-N:
-
2-Hydroxynaphthalene
- 1-OHP:
-
1-Hydroxypyrene
- 2-OHF:
-
2-Hydroxyfluorene
- AARs:
-
Amino acid residues
- AFB1:
-
Aflatoxin B1
- AP:
-
Apurinic/Apyrimidinic
- B[a]P:
-
Benzo[a]pyrene
- BER:
-
Base Excision Repair
- BPDE:
-
Benzo[a]pyrene-7,8-dihydrodiol-9,10-epoxide
- BPDE-I:
-
7B,8a-dihydroxy-9a,10a-epoxy-7,8,9,10-tetrahydro-benzo[a]pyrene
- BRCT1:
-
BRCA1 C-terminal 1
- CCCEH:
-
Columbia Center for Children’s Environmental Health
- CHO:
-
Chinese Hamster Ovary
- CYP1A1/2:
-
Cytochrome P450 Family 1 Subfamily A Member 1/2
- Dʹ:
-
Lewontin’s Standardized Disequilibrium Coefficient
- DB[a,l]P:
-
Dibenzo[a,l]pyrene
- DNA:
-
Deoxyribonucleic acid
- EDCs:
-
Endocrine-disrupting chemicals
- EDTA:
-
Ethylenediaminetetraacetic acid
- HWE:
-
Hardy–Weinberg equilibrium
- LD:
-
Linkage disequilibrium
- LIG3:
-
Ligase 3
- MMR:
-
Mismatch repair
- MMS:
-
Methyl methanesulfonate
- NER:
-
Nucleotide excision repair
- NLS:
-
Nuclear localization sequence
- NTD:
-
N-Terminal domain
- OGG1:
-
8-Oxoguanine glycosylase
- PAHs:
-
Polycyclic aromatic hydrocarbons
- PARP1:
-
Poly(ADP-Ribose) polymerase 1
- PCOS:
-
Polycystic ovary syndrome
- PCR–RFLP:
-
Polymerase chain reaction-restriction fragment length polymorphism
- POF:
-
Primary ovarian failure
- POLβ:
-
Polymerase β
- r2 :
-
Pearson’s correlation coefficient.
- RIR:
-
Rev1-interacting region
- SSB:
-
Single-strand break
- SSBR:
-
Single-strand break repair
- XRCC1:
-
X-ray repair cross-complementing 1
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Acknowledgements
The authors would like to thank Dr. Sonia Kamboj (Genesis Fertility and Surgical Center, Jalandhar, Punjab, India) for allowing access to blood samples and clinical details of the patients and Dr. Bhavna Sharma, Guru Nanak Dev University, for collecting the blood samples. Financial support from Council of Scientific & Industrial Research (CSIR) (Senior Research Fellowship) provided to JSS is highly acknowledged.
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This work was supported by funding from Council of Scientific & Industrial Research (CSIR) (Senior Research Fellowship) (File No: 09/254(0300)/2019-EMR-I) provided to JSS.
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VS and KG contributed in the study design. JSS performed the experiments and analyzed the data. JSS and VS prepared the manuscript. All authors read and approved the final manuscript.
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This study was conducted after approval by the Institutional Ethics Committee, Guru Nanak Dev University, Amritsar, Punjab, India in accordance with the tenets of the Declaration of Helsinki (Letter No: 301/HG dated 07-04-2022). Informed consent was obtained from all participants before conducting the study. The methodology was in accordance with guidelines and regulations of the Indian Council of Medical Research (ICMR) National Ethical Guidelines for Biomedical and Health Research for human subjects.
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Sahota, J.S., Guleria, K. & Sambyal, V. XRCC1 Polymorphisms p.Arg194Trp, p.Arg280His, and p.Arg399Gln, Polycyclic Aromatic Hydrocarbons, and Infertility: A Case–Control and In Silico Study. Biochem Genet (2024). https://doi.org/10.1007/s10528-024-10743-3
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DOI: https://doi.org/10.1007/s10528-024-10743-3