FOXE1 polymorphism rs965513 predisposes to thyroid cancer in a European cohort

Objective: FOXE1 is an intronless gene on chromosome 9 which plays a significant role in thyroid morphogenesis. Mutations in FOXE1 are associated with thyroid phenotypes including congenital hypothyroidism, thyroid dysgenesis and thyroid cancer. This study aims to investigate the frequency and impact of a single nucleotide polymorphism(rs965513, G>A) at 9q22.23 in a Western European cohort of patients with differentiated thyroid cancer(DTC), compared to controls. Design: This is a candidate gene case control study. Methods: 277 patients with histologically confirmed DTC were recruited from tertiary referral centres in Ireland and France. 309 cancer-free controls were recruited from the community. DNA was extracted from buccal swabs or whole blood of control subjects and patients with DTC. Allelic and genotypic frequencies among patients were compared with controls, to assess the risk for disease conferred by homozygous and heterozygous carriers compared to wild-type genotypes. Genotyping was performed using Taqman-based PCR. Results: 277 patients with confirmed DTC and 309 non-cancer controls were genotyped. The frequency of the minor allele among cases was 0.45 compared to 0.34 among controls. The genotypic odds ratio for heterozygotes was 1.66(CI 1.16-2.39, p=0.00555), increasing to 2.93(CI 1.70-5.05, p=0.00007) for rare homozygotes. All subjects were in Hardy-Weinberg equilibrium(X2, p=0.09, p=0.07 respectively). Conclusions: This FOXE1 polymorphism is a low penetrance variant associated with DTC susceptibility in this cohort. The minor allele was identified among patients with thyroid cancer significantly more frequently than controls. An allele dosage effect was observed, with rare homozygous genotypes conferring greater risk than heterozygotes.

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Lack of mutational events of RAS genes in sporadic thyroid cancer but high risk associated with HRAS T81C single nucleotide polymorphism (case–control study)

Tumor Biology ◽

10.1007/s13277-012-0577-y ◽

2012 ◽

Vol 34 (1) ◽

pp. 521-529 ◽

Cited By ~ 8

Author(s):

Mosin S. Khan ◽

Arshad A. Pandith ◽

Mahboob ul Hussain ◽

Mohammad Iqbal ◽

Nighat P. Khan ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Thyroid Cancer ◽

High Risk ◽

Case Control Study ◽

Case Control ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Ras Genes ◽

Control Study

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Influence of TLR-8 Gene Polymorphisms (rs3764880 and rs3788935) Associated to Pulmonary Tuberculosis in Kupang, Indonesia

Indonesian Journal of Tropical and Infectious Disease ◽

10.20473/ijtid.v9i1.22056 ◽

2021 ◽

Vol 9 (1) ◽

pp. 9

Author(s):

Afandi Charles ◽

Simeon Penggoam ◽

Ani Melani Maskoen ◽

Edhyana Sahiratmadja

Keyword(s):

Pulmonary Tuberculosis ◽

Intracellular Signaling ◽

Gene Polymorphisms ◽

Pathogenic Bacteria ◽

Nucleotide Polymorphisms ◽

Toll Like Receptor ◽

Single Nucleotide ◽

Significant Difference ◽

Hardy Weinberg Equilibrium ◽

Control Study

Toll-like receptor 8 (TLR-8) is known as part of intracellular signaling transduction for bacterial phagocytosis. Mycobacterium tuberculosis (Mtb) is intracellular pathogenic bacteria that is recognized by this receptor, and genetic variation of TLR-8 might alter susceptibility of the host towards pulmonary tuberculosis (PTB). This study aimed to determine whether TLR-8 gene polymorphisms were associated to PTB in Kupang, Indonesia. This case-control study compared demographic and clinical data between 115 PTB patients and 115 controls, then two TLR-8 single nucleotide polymorphisms (rs3764880 and rs3788935) were explored using the GoldenGate® Genotyping for VeraCode® / BeadXpress Illumina®. There is no significant difference between sex distribution of patient vs control groups. The polymorphisms (rs3764880 and rs3788935) are in Hardy-Weinberg Equilibrium in this population (p > 0.05). The distribution of major vs minor genotypes and alleles of TLR-8 polymorphisms in PTB patients were as followed: rs3764880 (GG vs GA vs AA, 50.0% vs 21.4% vs 28.6% ; G vs A, 60.9% vs 39.1% ) and rs3788935 (GG vs GA vs AA, 53.0% vs 21.7% vs 25.3%; G vs A, 62.9% vs 37.1%). Neither genotypes nor alleles were associated with PTB in this population (P > 0.05). Besides, when the analyses were stratified by gender, none of the alleles of polymorphism in both genders were associated with PTB cases. None of the TLR-8 polymorphisms have associated the risk of developing PTB in Kupang, East Nusa Tenggara population (as opposed to other studies in different ethnic groups). These might reflect the diversity of genetic polymorphisms in eastern Indonesia populations, suggesting different genetic backgrounds with western part of Indonesia.

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Association ofARTS1Gene Polymorphisms with Ankylosing Spondylitis in the Hungarian Population: The rs27044 Variant Is Associated with HLA-B*2705 Subtype in Hungarian Patients with Ankylosing Spondylitis

The Journal of Rheumatology ◽

10.3899/jrheum.090806 ◽

2009 ◽

Vol 37 (2) ◽

pp. 379-384 ◽

Cited By ~ 35

Author(s):

BORBÁLA PAZÁR ◽

ENIKO SÁFRÁNY ◽

PÉTER GERGELY ◽

SÁNDOR SZÁNTÓ ◽

ZOLTÁN SZEKANECZ ◽

...

Keyword(s):

Ankylosing Spondylitis ◽

Minor Allele ◽

Nucleotide Polymorphisms ◽

Hla B27 ◽

Allelic Discrimination ◽

Single Nucleotide ◽

Predominant Subtype ◽

Hungarian Population ◽

Polymerase Chain ◽

Control Study

Objective.Associations have been found between ankylosing spondylitis (AS) and polymorphisms in the aminopeptidase regulator of TNFR1 shedding (ARTS1) gene. We studied the association of 5 polymorphisms within theARTS1gene with AS in Hungarian patients. We also investigated the prevalence of HLA-B27 subtypes in the Hungarian population.Methods.A case-control study including 297 patients with AS and 200 sex and ethnically matched healthy controls was performed. Patients and controls were genotyped for rs27044, rs17482078, rs10050860, rs30187, and rs2287987 single-nucleotide polymorphisms using real-time polymerase chain reaction (PCR) allelic discrimination. HLA-B27 subtypes were determined with PCR sequence-specific primer (PCR-SSP) technique.Results.We observed a significant increase in the minor allele frequency of rs27044 (p = 0.001) in the AS group compared to controls. The minor allele frequencies of rs10050860 (p = 0.006) and rs2287987 (p = 0.002) showed a significant decrease in AS patients compared to controls. Haplotype analysis revealed association of 2 ARTS1 haplotypes with AS in the Hungarian population. We found that HLA-B*2705 was the predominant subtype in Hungarians with AS. Carriage of the G allele of rs27044 was significantly associated with the HLA-B*2705 subtype (p = 0.009) in AS patients.Conclusion.We confirmed reported associations ofARTS1gene polymorphisms with AS in a Hungarian cohort study. We found HLA-B*2705 as the predominant subtype in Hungarian AS patients in accord with other studies on Caucasian populations. Our results suggest that theARTS1gene variants together with HLA-B27 strongly contribute to disease susceptibility in patients with AS.

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THE ASSOCIATION OF ERAP2 GENE POLYMORPHISMS WITH SERONEGATIVE SPONDYLOARTHROPATHIES IN HLA-B27 NEGATIVE ROMANIANS

Romanian Journal of Rheumatology ◽

10.37897/rjr.2016.2.4 ◽

2016 ◽

Vol 25 (2) ◽

pp. 78-87

Author(s):

Laura Ioana Cherciu ◽

◽

Marius Cherciu ◽

Luis Ovidiu Popa ◽

Mihai Bojinca ◽

...

Keyword(s):

Gene Polymorphisms ◽

Minor Allele ◽

Nucleotide Polymorphisms ◽

Hla B27 ◽

Single Nucleotide ◽

Seronegative Spondyloarthropathies ◽

Polymerase Chain ◽

The One ◽

Negative Controls ◽

Control Study

Objective. Our aim was to investigate whether two ERAP2 single nucleotide polymorphisms (rs2910686 and rs2248374) influence spondyloarthritis (SpA) susceptibility in Romanians. Methods. The case control study included 139 controls and 192 SpA patients. The two polymorphisms were genotyped by real time polymerase chain reaction (RT-PCR). The association tests for allele, genotype and haplotype frequencies for each polymorphism were performed with PLINK 1.9. Results. The genotypes and allele frequencies of the two SNPs in general SpA group vs. controls showed no association except for a possible marginal one for the minor allele A of rs2248374 (p = 0.08). In HLA-B27 negative SpA cohort the minor allele (A) frequency (55.4%) of SNP rs2248374 was significantly higher than the one in HLA-B27 controls (44.5%) (p = 0.012). HLA-B27 negative carriers of minor allele A present a higher risk of developing SpA (p = 0.015). Also for the second ERAP2 gene variant investigated (rs2910686) the minor allele T frequency was significantly higher (46.5%) in HLA-B27 negative SPA patients when compared with HLA-B27 negative controls (36%) (p = 0.02). The haplotype of the minor alleles (AC) is a risk factor for HLA-B27 negative SpA (p = 0.019), while the haplotype of the major alleles (GT) is a protective one against the disease in HLA-B27 negative cohorts (p = 0.009). Conclusions. Both ERAP2 gene polymorphisms investigated, especially rs2248374, influence SpA susceptibility, but this influence is limited only to the HLA-B27 negative individuals.

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Genetic polymorphism for IFNγ +874T/A in patients with acute toxoplasmosis

Revista da Sociedade Brasileira de Medicina Tropical ◽

10.1590/s0037-86822012000600020 ◽

2012 ◽

Vol 45 (6) ◽

pp. 757-760 ◽

Cited By ~ 11

Author(s):

Elizabeth de Souza Neves ◽

André Luis Land Curi ◽

Maira Cavalcanti de Albuquerque ◽

Cassius Schnel Palhano-Silva ◽

Laura Berriel da Silva ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Case Control Study ◽

Severe Disease ◽

Clinical Manifestations ◽

Nucleotide Polymorphism ◽

Gene Encoding ◽

Single Nucleotide ◽

Duration Of Disease ◽

Acute Toxoplasmosis ◽

Control Study

INTRODUCTION: A single nucleotide polymorphism (SNP) in the gene encoding gamma interferon influences its production and is associated with severity of infectious diseases. This study aimed to evaluate the association of IFNγ+874T/A SNP with duration of disease, morbidity, and development of retinochoroiditis in acute toxoplasmosis. METHODS: A case-control study was conducted among 30 patients and 90 controls. RESULTS: Although statistical associations were not confirmed, A-allele was more common among retinochoroiditis cases and prolonged illness, while T-allele was more frequent in severe disease. CONCLUSIONS: Despite few cases, the results could indicate a relation between IFNγ+874T/A single nucleotide polymorphism and clinical manifestations of toxoplasmosis.

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Impact of PD-1 gene polymorphism and its interaction with tea drinking on susceptibility to tuberculosis

Epidemiology and Infection ◽

10.1017/s0950268821000042 ◽

2021 ◽

Vol 149 ◽

Author(s):

Jing Wang ◽

Mian Wang ◽

Zihao Li ◽

Xinyin Wu ◽

Xian Zhang ◽

...

Keyword(s):

Case Control Study ◽

Preventive Measures ◽

Nucleotide Polymorphisms ◽

Unconditional Logistic Regression ◽

Negative Interaction ◽

Single Nucleotide ◽

High Risk Populations ◽

Tea Drinking ◽

The Impact ◽

Control Study

Abstract The aim of this study was to explore the impact of polymorphism of PD-1 gene and its interaction with tea drinking on susceptibility to tuberculosis (TB). A total of 503 patients with TB and 494 controls were enrolled in this case–control study. Three single-nucleotide polymorphisms of PD-1 (rs7568402, rs2227982 and rs36084323) were genotyped and unconditional logistic regression analysis was used to identify the association between PD-1 polymorphism and TB, while marginal structural linear odds models were used to estimate the interactions. Genotypes GA (OR 1.434), AA (OR 1.891) and GA + AA (OR 1.493) at rs7568402 were more prevalent in the TB patients than in the controls (P < 0.05). The relative excess risk of interaction (RERI) between rs7568402 of PD-1 genes and tea drinking was −0.3856 (95% confidence interval −0.7920 to −0.0209, P < 0.05), which showed a negative interaction. However, the RERIs between tea drinking and both rs2227982 and rs36084323 of PD-1 genes were not statistically significant. Our data demonstrate that rs7568402 of PD-1 genes was associated with susceptibility to TB, and there was a significant negative interaction between rs7568402 and tea drinking. Therefore, preventive measures through promoting the consumption of tea should be emphasised in the high-risk populations.

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The association between diabetes and thyroid cancer risk: a hospital-based case-control study in China

BMC Endocrine Disorders ◽

10.1186/s12902-021-00684-y ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Meng Wang ◽

Wei-Wei Gong ◽

Feng Lu ◽

Ru-Ying Hu ◽

Qing-Fang He ◽

...

Keyword(s):

Thyroid Cancer ◽

Family History ◽

Case Control Study ◽

Positive Family History ◽

Case Control ◽

Diabetes Duration ◽

Family History Of Diabetes ◽

Thyroid Cancer Risk ◽

History Of ◽

Control Study

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.

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