Association of CYP1A1 gene variants rs4646903 (T&gt;C) and rs1048943 (A&gt;G) with cervical cancer in a North Indian population

Abbas, Mohammad; Srivastava, Kirti; Imran, Mohd; Banerjee, Monisha

doi:10.1016/j.ejogrb.2014.02.036

Cited by 33 publications

(28 citation statements)

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“…The rs4646903 variant, a TOC substitution in 3'UTR of Genetics of male infertility R163 CYP1A1 gene has been associated with increased transcript half-life and therefore increased enzyme activity resulting in elevated levels of activated metabolites (Manfredi et al 2007). This SNP has been associated with different types of cancers (Salnikova et al 2013, Abbas et al 2014, further supporting their biological importance. Studies focusing on the role of this SNP in male infertility overall produced discordant results even in the same ethnic groups.…”

Section: Introductionmentioning

confidence: 61%

Genetics of male infertility: from research to clinic

Krausz¹,

Riera-Escamilla²,

Chianese³

2015

Reproduction

183

128

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Male infertility is a multifactorial complex disease with highly heterogeneous phenotypic representation and in at least 15% of cases, this condition is related to known genetic disorders, including both chromosomal and single-gene alterations. In about 40% of primary testicular failure, the etiology remains unknown and a portion of them is likely to be caused by not yet identified genetic anomalies. During the last 10 years, the search for 'hidden' genetic factors was largely unsuccessful in identifying recurrent genetic factors with potential clinical application. The armamentarium of diagnostic tests has been implemented only by the screening for Y chromosomelinked gr/gr deletion in those populations for which consistent data with risk estimate are available. On the other hand, it is clearly demonstrated by both single nucleotide polymorphisms and comparative genomic hybridization arrays, that there is a rare variant burden (especially relevant concerning deletions) in men with impaired spermatogenesis. In the era of next generation sequencing (NGS), we expect to expand our diagnostic skills, since mutations in several hundred genes can potentially lead to infertility and each of them is likely responsible for only a small fraction of cases. In this regard, system biology, which allows revealing possible gene interactions and common biological pathways, will provide an informative tool for NGS data interpretation. Although these novel approaches will certainly help in discovering 'hidden' genetic factors, a more comprehensive picture of the etiopathogenesis of idiopathic male infertility will only be achieved by a parallel investigation of the complex world of gene environmental interaction and epigenetics.Reproduction (2015) 150 R159-R174

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Section: Introductionmentioning

confidence: 61%

Genetics of male infertility: from research to clinic

Krausz¹,

Riera-Escamilla²,

Chianese³

2015

Reproduction

183

128

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“…Studies have shown that the C allele in the rs4646903 polymorphism of CYP1A1 can increase the induction rate of CYP1A1, which may increase the risk of lung cancer in smokers (Abbas et al, 2014). The rs1048943 polymorphism of CYP1A1 can cause Ile at amino acid number 462 to mutate to Val, which affects the activity of the CYP1A1 protein.…”

Section: Discussionmentioning

confidence: 99%

Correlation between gene polymorphisms of CYP1A1, GSTP1, ERCC2, XRCC1, and XRCC3 and susceptibility to lung cancer

Liu

2016

Genet. Mol. Res.

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ABSTRACT. Lung cancer is a common malignant tumor that is characterized by high morbidity and poor prognosis. Studies suggest that an individual's genetic background affects the risk of developing lung cancer. Therefore, we investigated the relationship between gene polymorphisms and susceptibility to lung cancer. We recruited 308 primary lung cancer patients as subjects and 253 healthy adults as controls. After extraction of DNA from blood samples, gene polymorphisms in CYP1A1, GSTP1, ERCC2, XRCC1, and XRCC3 were investigated by polymerase chain reaction and restriction fragment length polymorphism. The frequencies of the genotypes in both groups were investigated to obtain odds ratios and 95% confidence intervals, and correlation analysis was carried out. The analysis results showed that the following polymorphisms were correlated with susceptibility to lung cancer: rs4646903 in CYP1A1 (P < 2 H.X. Liu et al.Genetics and Molecular Research 15 (4): gmr15048813 0.001), rs1048943 in CYP1A1 (P < 0.001), rs1695 in GSTP1 (P < 0.05), rs13181 in ERCC2 (P < 0.001), and rs25487 in XRCC1 (P < 0.05); no such correlation existed in rs861539 in XRCC3 (P > 0.05). The study revealed that the more high-risk gene polymorphisms a patient carries, the greater the risk of developing lung cancer. Carriers of rs4646903 in CYP1A1, rs1048943 in CYP1A1, rs1695 in GSTP1, rs13181 in ERCC2, and rs25487 in XRCC1 are more likely to develop lung cancer.

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“…A total of 530,000 new cancer cases and 275,000 cancer deaths occur each year. In India, every year 320,000 new cases are being diagnosed out of which 74,000 deaths occur annually, which is one-third of global cervical cancer deaths (Abbas et al, 2014;Kaarthigeyan, 2012). Cervical cancer develops in the lining of the cervix gradually over time from a well-defined precursor lesion referred to as cervical intraepithelial neoplasia or squamous intra epithelial lesion (Shrikanth et al, 2011).…”

Section: Introductionmentioning

confidence: 99%