Journal: International Journal of Molecular Sciences

Article Title: Epigenetic Factors Related to Low Back Pain: A Systematic Review of the Current Literature

doi: 10.3390/ijms24031854

Figure Lengend Snippet: Details of the included studies concerning LBP-related epigenetic regulation: DNA methylation in peripheral blood cells. Studies are listed in chronological order.

Article Snippet: Genome-wide association study (GWAS) (II) , Discovery cohort: 32 - Control group: 16 - Low back pain group: 16 Validation cohort: 63 - Control group: 16 - Low back pain group: 37 , Discovery cohort: - Control females: 43.8 ± 4.6 - Low back pain females: 41.3 ± 3.8 - Control males: 43.8 ± 4.0 - Low back pain males: 42.6 ± 3.6 Males: 16 (50%) Females: 16 (50%) Validation cohort: - Control females: 38.5 ± 3.5 - Low back pain females: 46.1 ± 2.7 - Control males: 43.1 ± 3.2 - Low back pain males: 48.4 ± 2.6 Males: 31 (49%) Females: 32 (51%) Caucasian , Canadian adaptation of NIH low back pain taskforce, DN4 and ODI \ NS , T cells isolated from peripheral blood Array-based methylation analyis (Illumina) after bisulfite treatment, followed by validation by pyrosequencing , 850,000 CpG sites , Of the 736,414 CpGs identified in men, 179 were hypermethylated and 240 were hypomethylated in LBP patients compared to controls. Of the 735,863 CpGs identified in women, 601 were hypermethylated and 1895 were hypomethylated ( p -value < 0.05). The generation of a polygenic methylation score for LBP in men and women with three surrogate CpG loci: cg07420274 for women; cg21149944 and cg22831726 for men. In women, the percentage of methylation at position cg07420274 was 39.5 ± 6 2.7% and 49.7 ± 6 3.2% in the control ( n = 21) and LBP groups ( n = 25), respectively ( p < 0.05). A statistically significant association between methylation at cg07420274 and LBP was observed (OR = 1.05, 95% CI: 1.01–1.11, p < 0.03). In men, a statistically significant association was found between LBP and cg21149944 methylation (OR = 0.89, 95% CI: 0.82–0.95, p < 0.0015) as well as cg22831726 methylation (OR = 0.9, 95% CI: 0.84–0.96, p < 0.0036). , S. Grègoire (2021) [ ] .

Techniques: DNA Methylation Assay, Genome Wide, Methylation, Expressing, Methylation Sequencing, Isolation, Enzyme-linked Immunosorbent Assay

Journal: Frontiers in Neurology

Article Title: Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

doi: 10.3389/fneur.2020.613035

Figure Lengend Snippet: Cytogenetics, cytogenomics, and molecular techniques used to study ring chromosome 20 [r(20)].

Article Snippet: Array-based genome-wide methylation analysis array (Human Methylation450 BeadChip kit, Illumina) , Evaluation of the methylation level of CpGs in the whole genome in r(20) patients compared to normal controls , Tissue-specific and low-level epimutation mosaicism cannot be detected , Calzari L. [patients from Giardino et al. ( )]; present data ( ) .

Techniques: Biomarker Discovery, Sequencing, Microarray, Genome Wide, Methylation