Genetic polymorphisms associated with cigarette smoking and the risk of Graves’ disease

Bufalo, Natassia Elena; Santos, Rejane Barbosa; Cury, Adriano Namo; Andrade, Renato Alves de; Morari, Joseane; Morari, Elaine Cristina; Leite, Jáder Ferreira; Monte, Osmar; Romaldini, João Hamilton; Ward, Laura Sterian

doi:10.1111/j.1365-2265.2007.03121.x

Cited by 27 publications

(26 citation statements)

References 39 publications

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“…Pro72TP53 homozygous inheritance was revealed as an important risk factor of GD, especially among smokers (19). Using a subset of 280 GD patients carefully paired for exposure to environmental risk factors with a control group of 284 individuals, we confirmed the data and now demonstrate that HHV-7 infection is also associated with an increased susceptibility to GD.…”

Section: Discussionsupporting

confidence: 69%

“…We previously demonstrated that individuals with GSTP1 and CYP1A1 variants may be more susceptible to the effect of autoimmunity-inducing environmental or endogenous products (19). Pro72TP53 homozygous inheritance was revealed as an important risk factor of GD, especially among smokers (19).…”

Section: Discussionmentioning

confidence: 99%

“…In addition, we recently demonstrated that a series of codifying genes of detoxification enzymes, including glutathione S-transferase pi 1 (GSTP1) and cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), besides 72TP53 polymorphisms, were associated with an increased risk of GD (19). Hence, we aimed to evaluate the relationship among HHV-6 and HHV-7 infections, TP53 apoptotic ability as represented by 72TP53 polymorphisms, the inherited profile of genes codifying for enzymes involved in the response to xeno-and endobiotics, and GD susceptibility and outcome.…”

Section: Introductionmentioning

confidence: 99%

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Herpesvirus type 7 infection may play an important role in individuals with a genetic profile of susceptibility to Graves' disease

Leite

Bufalo²,

Santos³

et al. 2010

European Journal of Endocrinology

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Objective: An inherited profile of genes related to the response to aggressive environmental factors such as viruses and chemicals may be related to an increased susceptibility to Graves' disease (GD). Design and methods: This prospective case-control study was designed to examine the relationship between human herpesviruses (HHV) infection, determined by circulating DNA; tumour protein p53 (TP53) apoptotic ability; and detoxification system genes, and GD. We studied 280 confirmed GD patients paired to 284 controls with respect to environmental exposure. Exclusion criteria included medications that could interfere with thyroid function evaluation and a recent history of viral and bacterial infections. Results: A stepwise regression analysis adjusted for age, gender, and ethnicity established the inheritance of glutathione S-transferase pi 1 (GSTP1) (odds ratio (OR)Z3.423; 95% confidence interval (CI)Z2.120-5.527; P!0.001) and cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1) variants (ORZ1.649; 95% CIZ1.012-2.686; PZ0.0445) as significant risk factors for the disease. HHV-7 infection was much more common in GD patients (64.64%) than in controls (38.73%; c 2 , P!0.0001), and it increased the risk for GD more than three times (ORZ3.133; 95% CIZ1.959-5.011; P!0.0001). The inheritance of less efficient Pro/Pro TP53 gene variants significantly increased the risk of GD development (ORZ5.196;; P!0.0001) and also favored HHV-7 infection (ORZ2.835; 95% CIZ1.100-7.310; PZ0.0275). In addition, 72TP53 variants augmented the risk of GD relapse (ORZ1.860; 95% CIZ1.015-3.410; PZ0.0446). Conclusions: We suggest that an inherited genetic profile involving TP53 may favor HHV-7 infection and maintenance, which, in turn, may initiate and perpetuate GD autoimmune process.

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Section: Discussionsupporting

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Herpesvirus type 7 infection may play an important role in individuals with a genetic profile of susceptibility to Graves' disease

Leite

Bufalo²,

Santos³

et al. 2010

European Journal of Endocrinology

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“…[4][5][6][7][8] Therefore, it has become generally accepted that genetic predisposition to DTC is likely due to common lowpenetrance or rare moderate-penetrance variants. 9 Moreover, there is evidence that gene-gene 10,11 and gene-environment interactions 12,13 modulate individual susceptibility. In this scenario, both carefully designed candidate-gene association studies [14][15][16] and genome-wide association studies (GWAS) [17][18][19][20] have been used to identify susceptibility variants for DTC.…”

mentioning

confidence: 99%

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations

Mančíková

Cruz

Inglada-Pérez

et al. 2015

Intl Journal of Cancer

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Thyroid cancer is the most heritable cancer of all those not displaying typical Mendelian inheritance. However, most of the genetic factors that would explain the high heritability remain unknown. Our aim was to identify additional common genetic variants associated with susceptibility to this disease. In order to do so, we performed a genome-wide association study in a series of 398 cases and 502 controls from Spain, followed by a replication in four well-defined Southern European casecontrol collections contributing a total of 1,422 cases and 1,908 controls. The association between the variation at the 9q22 locus near FOXE1 and thyroid cancer risk was consistent across all series, with several SNPs identified (rs7028661: OR 5 1.64, p 5 1.0 3 10 222

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“…The application of this approach to late-onset POAG is the focus of current studies in this area. Bufalo et al (2008) noted that the CYP1A1m1 polymorphism is associated with increased susceptibility to Graves' disease, which can lead to manifestations such as ophthalmopathies. Regarding the distribution of the polymorphism CYP1A1m1, Santos (2009) found no statistically significant difference between the groups that developed and did not develop Graves' ophthalmopathy.…”

Section: Discussionmentioning

confidence: 99%

Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma

Costa¹,

Silva²,

Frare³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. The CYP1A1 gene is related to the generation of secondary metabolites that are capable of inducing DNA damage. The CYP1A1m1 polymorphism has been examined in many studies, and is located in a region near loci that have been linked to glaucoma, including the locus GLC1I. As a result, this polymorphism has been related to several diseases that are influenced by exposure to xenobiotic as well as primary open-angle glaucoma. We compared the prevalence of the CYP1A1m1 polymorphism in 152 Brazilian patients, 100 patients with primary open-angle glaucoma, and 52 normal controls using restriction fragment length polymorphism analysis. The frequency of the homozygous wild-type (w1/w1) CYP1A1 gene among patients with primary open-angle glaucoma (N = 100) was 16%, for genotype w1/m1, the frequency was 77%, and for m1/m1 it was 7%. Among the control group (N = 52), the frequency of the homozygous wild-type (w1/w1) CYP1A1 gene was 54%, the frequency of w1/m1 was 46%, and the frequency of m1/m1 was 0%. The presence of the CYP1A1m1 polymorphism may interfere with xenobiotic metabolism and exacerbate direct or indirect damage to the optic nerve. These CYP1A1m1

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Genetic polymorphisms associated with cigarette smoking and the risk of Graves’ disease

Abstract: We concluded that GSTP1, CYP1A1 and TP53, but not GSTT1 and GSTM1 germline polymorphisms, may be associated with smoking-related Graves' disease susceptibility and configure a risk profile for the disease. However, these polymorphisms do not influence the patients' response to treatment.

Cited by 27 publications

References 39 publications

Herpesvirus type 7 infection may play an important role in individuals with a genetic profile of susceptibility to Graves' disease

Herpesvirus type 7 infection may play an important role in individuals with a genetic profile of susceptibility to Graves' disease

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations

Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma

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