RNA modification-related variants in genomic loci associated with body mass index

Wang, Mimi; Han, Limin; Zhang, Huan; Lei, Shu‐Feng; Zhang, Yonghong; Mo, Xing‐Bo

doi:10.1186/s40246-022-00403-1

Cited by 5 publications

(1 citation statement)

References 55 publications

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“…We used the “clump_data” function in the “TwoSampleMR” R package to clump SNPs (linkage disequilibrium r 2 < 0.01 in the range of 10,000 kb) according to the data of the Europeans 1000 Genomes project to select independent instrumental variables [ 61 ]. The effect allele of each SNP in the RA GWAS and pQTL studies was manually checked for consistency, as we previously reported [ 62 , 63 ]. All methods were carried out in accordance with relevant guidelines.…”

Section: Methodsmentioning

confidence: 99%

Genome-wide identification of RNA modification-related single nucleotide polymorphisms associated with rheumatoid arthritis

Wang

Lei

2023

BMC Genomics

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Background RNA modification plays important roles in many biological processes, such as gene expression control. The aim of this study was to identify single nucleotide polymorphisms related to RNA modification (RNAm-SNPs) for rheumatoid arthritis (RA) as putative functional variants. Methods We examined the association of RNAm-SNPs with RA in summary data from a genome-wide association study of 19,234 RA cases and 61,565 controls. We performed eQTL and pQTL analyses for the RNAm-SNPs to find associated gene expression and protein levels. Furthermore, we examined the associations of gene expression and circulating protein levels with RA using two-sample Mendelian randomization analysis methods. Results A total of 160 RNAm-SNPs related to m6A, m1A, A-to-I, m7G, m5C, m5U and m6Am modifications were identified to be significantly associated with RA. These RNAm-SNPs were located in 62 protein-coding genes, which were significantly enriched in immune-related pathways. RNAm-SNPs in important RA susceptibility genes, such as PADI2, SPRED2, PLCL2, HLA-A, HLA-B, HLA-DRB1, HLA-DPB1, TRAF1 and TXNDC11, were identified. Most of these RNAm-SNPs showed eQTL effects, and the expression levels of 26 of the modifiable genes (e.g., PADI2, TRAF1, HLA-A, HLA-DRB1, HLA-DPB1 and HLA-B) in blood cells were associated with RA. Circulating protein levels, such as CFB, GZMA, HLA-DQA2, IL21, LRPAP1 and TFF3, were affected by RNAm-SNPs and were associated with RA. Conclusion The present study identified RNAm-SNPs in the reported RA susceptibility genes and suggested that RNAm-SNPs may affect RA risk by affecting the expression levels of corresponding genes and proteins.

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Section: Methodsmentioning

confidence: 99%

Genome-wide identification of RNA modification-related single nucleotide polymorphisms associated with rheumatoid arthritis

Wang

Lei

2023

BMC Genomics

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Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms

Zhang,

Fan

et al. 2024

Immunogenetics

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Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome

Totten,

Teixido-Tura,

Lopez-Grondona

et al. 2024

J Med Genet

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BackgroundTatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused byDNMT3Aheterozygous pathogenic variants, and first described in 2014. TBRS is characterised by overgrowth, intellectual disability, facial dysmorphism, hypotonia and musculoskeletal features, as well as neurological and psychiatric features. Cardiac manifestations have also been reported, mainly congenital malformations such as atrial septal defect, ventricular septal defect and cardiac valvular disease. Aortic dilatation has rarely been described.MethodsHere we have undertaken a detailed clinical and molecular description of eight previously unreported individuals, who had TBRS and arterial dilatation and/or dissection, mainly thoracic aortic aneurysm (TAA). We have also reviewed the seven previously published cases of TAA in individuals with TBRS to try to better delineate the vascular phenotype and to determine specific follow-up for this condition.ResultsWe include eight new patients with TBRS who presented with arterial aneurysms mainly involving aorta. Three of these patients presented with dissection that required critical surgery.ConclusionsArterial aneurysms and dissections are a potentially lethal, age-dependent manifestation. The prevalence of aortic disease in individuals with TBRS is far in excess of that expected in the general population. This cohort, together with individuals previously published, illustrates the importance to consider dilatation/dissection, mainly in aorta but also in other arteries. Arterial vascular weakness may therefore also be a cardinal feature of TBRS and vascular surveillance is recommended.

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RNA modification-related variants in genomic loci associated with body mass index

Cited by 5 publications

References 55 publications

Genome-wide identification of RNA modification-related single nucleotide polymorphisms associated with rheumatoid arthritis

Genome-wide identification of RNA modification-related single nucleotide polymorphisms associated with rheumatoid arthritis

Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome

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