An association study of 45 folate‐related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)

Franke, Barbara; Vermeulen, Sita H.; Steegers‐Theunissen, Régine P.M.; Coenen, Marieke J. H.; Schijvenaars, Mascha M.V.A.P.; Scheffer, Hans; Heijer, Martin den; Blom, Henk J.

doi:10.1002/bdra.20556

Cited by 68 publications

(71 citation statements)

References 32 publications

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“…Furthermore, mutations in RNA modification enzymes have also been shown to cause developmental defects, such as Hutchinson-Gilford progeria syndrome (NAT10) (Larrieu et al 2014), and primordial dwarfism (WDR4) (Shaheen et al 2015). In addition, mutations in RNA modification enzymes can cause the spinal cord to expose outside the body like spina bifida (TRDMT1) (Franke et al 2009) and infant death (EMG1) (Armistead et al 2009). …”

Section: Genetic Defectsmentioning

confidence: 99%

The RNA modification landscape in human disease

Jonkhout

Tran

Smith

et al. 2017

RNA

494

420

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RNA modifications have been historically considered as fine-tuning chemo-structural features of infrastructural RNAs, such as rRNAs, tRNAs, and snoRNAs. This view has changed dramatically in recent years, to a large extent as a result of systematic efforts to map and quantify various RNA modifications in a transcriptome-wide manner, revealing that RNA modifications are reversible, dynamically regulated, far more widespread than originally thought, and involved in major biological processes, including cell differentiation, sex determination, and stress responses. Here we summarize the state of knowledge and provide a catalog of RNA modifications and their links to neurological disorders, cancers, and other diseases. With the advent of direct RNA-sequencing technologies, we expect that this catalog will help prioritize those RNA modifications for transcriptome-wide maps.

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Section: Genetic Defectsmentioning

confidence: 99%

The RNA modification landscape in human disease

Jonkhout

Tran

Smith

et al. 2017

RNA

494

420

View full text Add to dashboard Cite

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“…Other candidate SNPs in the megalin gene, LRP2, were selected based on one previous study that evaluated megalin in relation to prostate cancer; four LRP2 SNPs showed some associations with prostate cancer risk (rs831003, rs2239598, 2268373, rs3944004) (28). We also included one SNP (rs1907362) in the CUBN gene that has been shown to have some functional importance in another pathway (29). Genotyping was conducted at the University Health Network's Analytical Genetics Technology Centre using the MassARRAY iPLEX Gold Sequenom Platform.…”

Section: Response Rate and Sample Sizementioning

confidence: 99%

Vitamin D-Related Genetic Variants, Interactions with Vitamin D Exposure, and Breast Cancer Risk among Caucasian Women in Ontario

Anderson

Cotterchio

Cole

et al. 2011

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Vitamin D, from diet and sunlight exposure, may be associated with reduced breast-cancer risk. This study investigated if candidate gene variants in vitamin D pathways are associated with breast cancer risk, or modify the associations between breast cancer and vitamin D exposure.Methods: Breast cancer cases aged 25 to 74 years were identified from the Ontario Cancer Registry (histopathologically confirmed and diagnosed [2002][2003] and population-based controls were identified through random digit dialing of Ontario households. Saliva (DNA) was available for 1,777 cases and 1,839 controls. Multivariate logistic regression was used to evaluate associations between 19 single nucleotide polymorphisms (SNP) in vitamin D related genes, including vitamin D binding protein (GC), vitamin D receptor (VDR), and cytochrome P450 type 24A1 (CYP24A1). Statistical interactions were assessed using the likelihood ratio test.Results: Some SNPs were found to be significantly associated with breast cancer risk. For example, breast cancer risk was associated with the GC rs7041 TT genotype (age-adjusted odds ratio (OR) ¼ 1.23; 95% CI: 1.01, 1.51) and inversely with the VDR Fok1 (rs2228570) ff genotype (OR ¼ 0.71; 95% CI: 0.57, 0.88). Few significant gene-environment interactions were observed between dietary vitamin D and genetic variants.Conclusion: Our study suggests certain vitamin D related genetic variants may influence breast-cancer risk and we found limited evidence that genetic variants modify the associations between vitamin D exposure and breast cancer risk.Impact: Variation in vitamin D-related genotypes may help to explain inconsistent results from previous epidemiologic studies and may lead to targeted prevention strategies. Cancer Epidemiol Biomarkers Prev; 20(8); 1708-17. '2011 AACR.

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“…Defects in cubilin, a proximal tubular membrane protein, have been associated with both megaloblastic anemia and tubular proteinuria [11][12][13][14]. Cubilin also acts to reabsorb the majority of filtered albumin from the urine and recently, genome-wide association studies have identified SNPs in CUBN in association with albuminuria [15] and B 12 levels [16,17].…”

Section: Discussionmentioning

confidence: 99%