Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

Stacey, Simon; Sulem, Patrick; Guðbjartsson, Daníel F.; Jónasdóttir, Áslaug; Þorleifsson, Guðmar; Gudjonsson, Sigurjon A.; Másson, Gísli; Guðmundsson, Jūlı́us; Sigurgeirsson, Bárður; Benediktsdóttir, Kristrún R.; Thorisdottir, Kristin; Ragnarsson, Rafn; Fuentelsaz, Victoria; Corredera, Cristina; Grasa, Matilde; Planelles, Dolores; Sanmartín, O.; Rudnai, Péter; Gurzău, Eugen; Koppová, Kvetoslava; Hemminki, Kari; Nexø, Bjørn A.; Tjønneland, Anne; Overvad, Kim; Johannsdottir, Hrefna; Helgadottir, Hafdís T.; Þorsteinsdóttir, Unnur; Kong, Augustine; Vogel, Ulla; Kumar, Rajiv; Nagore, Eduardo; Mayordomo, J. I.; Rafnar, Thorunn; Ólafsson, Jón; Stefánsson, Kāri

doi:10.1093/hmg/ddt671

Cited by 53 publications

(47 citation statements)

References 38 publications

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“…Interestingly, significantly decreased expression of RGS22 was found of patients with azoospermia. Taken together, these results indicated that RGS22 protein could be involved in spermatogenesis and concretely in spermiogenesis (Hu et al, 2008(Hu et al, , 2011Stacey et al, 2014).…”

Section: Rgs22 Subfamily Of Rgs Proteinsmentioning

confidence: 62%

Regulators of G-Protein-Signaling Proteins: Negative Modulators of G-Protein-Coupled Receptor Signaling

Woodard

Jardín

Berna‐Erro

et al. 2015

International Review of Cell and Molecular Biology

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Section: Rgs22 Subfamily Of Rgs Proteinsmentioning

confidence: 62%

Regulators of G-Protein-Signaling Proteins: Negative Modulators of G-Protein-Coupled Receptor Signaling

Woodard

Jardín

Berna‐Erro

et al. 2015

International Review of Cell and Molecular Biology

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“…There is also evidence for TGM3 to induce cell proliferation and migration in esophageal cancer by downregulating the NF-κB signaling pathway [33]. Genome-wide association study (GWAS) of 38.5 million SNPs and small indels identified TGM3 variant as a contributor to risk of basal cell carcinoma [34]. The role of TGM3 in small cell lung cancer remains to be established.…”

Section: Resultsmentioning

confidence: 99%

Significantly mutated genes and regulatory pathways in SCLC—a meta-analysis

et al. 2017

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Small cell lung cancer (SCLC) accounts for approximately 15% of all lung cancers and demands effective targeted therapeutic strategies. In this meta-analysis study, we aim to identify significantly mutated genes and regulatory pathways to help us better understand the progression of SCLC and to identify potential biomarkers. Besides ranking genes based on their mutation frequencies, we sought to identify statistically significant mutations in SCLC with the MutSigCV software. Our analysis identified several genes with relatively low mutation frequency, including PTEN, as highly significant (p<0.001), suggesting these genes may play an important role in the progression of SCLC. Our results also indicated mutations in genes involved in the axon guidance pathways likely play an important role in SCLC progression. In addition, we observed that the mutation rate was significantly higher in samples with RB1 gene mutated when compared to samples with wild type RB1, suggesting that RB1 status has significant impact on the mutation profile and disease progression in SCLC.

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“…We then searched two of the most recent GWAS publications in NCBI PubMed (http://www.ncbi.nlm.nih.gov/pubmed/), using the same keywords (2 SNPs). Of the 70 SNPs discovered during the previous GWAS studies [13181920212223242526], 8 genotyped SNPs and 4 imputed SNPs in independent genes were presented in our genotype data.…”

Section: Methodsmentioning

confidence: 99%

Association between Genetic Variations Affecting Mean Telomere Length and the Prevalence of Hypertension and Coronary Heart Disease in Koreans

et al. 2016

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In this study, we investigated whether the single nucleotide polymorphisms (SNPs) associated with telomere length (TL) were associated with the incidence of hypertension (HTN)/coronary heart disease (CHD) and cardiovascular risk factors in the Korean population. Data from 5,705 (ages 39–70) participants in the Korean Genome Epidemiology Study (rural Ansung and urban Ansan cohorts) were studied. Twelve SNPs known to be associated with telomere biology were tested for an association with HTN/CHD. As results, no significant associations were found between the selected TL-related SNPs and prevalence of HTN and CHD. Among non-alcohol users, subjects with minor alleles in rs1269304 and rs10936601 (TERC and LRRC34, respectively) exhibited a higher rate of CHD occurrence (odds ratio [OR], 1.862; 95% confidence intervals [CIs], 1.137, 3.049; OR, 1.855; 95% CIs, 1.111, 2.985; respectively). However, alcohol users with minor alleles in rs398652 (PELI2) were significantly associated with higher HTN prevalence (OR, 1.179; 95% CIs, 1.040, 1.336). Of the 3 SNPs related to disease outcomes, rs1296304 was significantly associated with increased levels of diastolic blood pressure (β estimate, 0.470; 95% CIs, 0.013, 0.926). The minor allele in rs398652 was significantly associated with higher levels of body mass index (OR, 0.128; 95% CIs, 0.010, 0.246) and γ-glutamyl transpeptidase (OR, 0.013; 95% CIs, 0.001, 0.024). In conclusion, there were no significant associations between the selected TL-related SNPs and the occurrence of HTN/CHD in Koreans. However, the results suggest the presence of a possible interaction between related SNPs and alcohol behavior associated with HTN/CHD occurrence.

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Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

Cited by 53 publications

References 38 publications

Regulators of G-Protein-Signaling Proteins: Negative Modulators of G-Protein-Coupled Receptor Signaling

Regulators of G-Protein-Signaling Proteins: Negative Modulators of G-Protein-Coupled Receptor Signaling

Significantly mutated genes and regulatory pathways in SCLC—a meta-analysis

Association between Genetic Variations Affecting Mean Telomere Length and the Prevalence of Hypertension and Coronary Heart Disease in Koreans

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