FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4281644658> ?p ?o ?g. }

• W4281644658 abstract "Genetic factors are relevant for both eating disorders and body weight regulation. A recent genome-wide association study (GWAS) for anorexia nervosa (AN) detected eight genome-wide significant chromosomal loci. One of these loci, rs10747478, was also genome-wide and significantly associated with body mass index (BMI). The nearest coding gene is the Polypyrimidine Tract Binding Protein 2 gene (PTBP2). To detect mutations in PTBP2, Sanger sequencing of the coding region was performed in 192 female patients with AN (acute or recovered) and 191 children or adolescents with (extreme) obesity. Twenty-five variants were identified. Twenty-three of these were predicted to be pathogenic or functionally relevant in at least one in silico tool. Two novel synonymous variants (p.Ala77Ala and p.Asp195Asp), one intronic SNP (rs188987764), and the intronic deletion (rs561340981) located in the highly conserved region of PTBP2 may have functional consequences. Ten of 20 genes interacting with PTBP2 were studied for their impact on body weight regulation based on either previous functional studies or GWAS hits for body weight or BMI. In a GWAS for BMI (Pulit et al. 2018), the number of genome-wide significant associations at the PTBP2 locus was different between males (60 variants) and females (two variants, one of these also significant in males). More than 65% of these 61 variants showed differences in the effect size pertaining to BMI between sexes (absolute value of Z-score >2, two-sided p < 0.05). One LD block overlapping 5'UTR and all coding regions of PTBP2 comprises 56 significant variants in males. The analysis based on sex-stratified BMI GWAS summary statistics implies that PTBP2 may have a more pronounced effect on body weight regulation in males than in females." @default.
• W4281644658 created "2022-06-13" @default.
• W4281644658 creator A5000245279 @default.
• W4281644658 creator A5000599118 @default.
• W4281644658 creator A5003455118 @default.
• W4281644658 creator A5009431828 @default.
• W4281644658 creator A5009790275 @default.
• W4281644658 creator A5010581654 @default.
• W4281644658 creator A5026823297 @default.
• W4281644658 creator A5031538439 @default.
• W4281644658 creator A5031953031 @default.
• W4281644658 creator A5036234656 @default.
• W4281644658 creator A5038515289 @default.
• W4281644658 creator A5041811133 @default.
• W4281644658 creator A5042830500 @default.
• W4281644658 creator A5061411374 @default.
• W4281644658 creator A5062455628 @default.
• W4281644658 creator A5065217356 @default.
• W4281644658 creator A5075713155 @default.
• W4281644658 creator A5081284470 @default.
• W4281644658 date "2022-06-09" @default.
• W4281644658 modified "2023-10-01" @default.
• W4281644658 title "PTBP2 – a gene with relevance for both Anorexia nervosa and body weight regulation" @default.
• W4281644658 cites W144423133 @default.
• W4281644658 cites W1591585742 @default.
• W4281644658 cites W1971445485 @default.
• W4281644658 cites W1998215353 @default.
• W4281644658 cites W2001547716 @default.
• W4281644658 cites W2008832408 @default.
• W4281644658 cites W2011582941 @default.
• W4281644658 cites W2018189081 @default.
• W4281644658 cites W2027154027 @default.
• W4281644658 cites W2033593485 @default.
• W4281644658 cites W2039153962 @default.
• W4281644658 cites W2047108227 @default.
• W4281644658 cites W2047783882 @default.
• W4281644658 cites W2064660049 @default.
• W4281644658 cites W2065498897 @default.
• W4281644658 cites W2073461929 @default.
• W4281644658 cites W2078349873 @default.
• W4281644658 cites W2096083625 @default.
• W4281644658 cites W2097572021 @default.
• W4281644658 cites W2102986375 @default.
• W4281644658 cites W2103550195 @default.
• W4281644658 cites W2114029728 @default.
• W4281644658 cites W2117396697 @default.
• W4281644658 cites W2124649441 @default.
• W4281644658 cites W2127294611 @default.
• W4281644658 cites W2160995259 @default.
• W4281644658 cites W2163184920 @default.
• W4281644658 cites W2166320441 @default.
• W4281644658 cites W2328291379 @default.
• W4281644658 cites W2403357649 @default.
• W4281644658 cites W2403437915 @default.
• W4281644658 cites W2403857053 @default.
• W4281644658 cites W2405332664 @default.
• W4281644658 cites W2609876203 @default.
• W4281644658 cites W2626966859 @default.
• W4281644658 cites W2696775590 @default.
• W4281644658 cites W2716005210 @default.
• W4281644658 cites W2777667999 @default.
• W4281644658 cites W2801470635 @default.
• W4281644658 cites W2901303766 @default.
• W4281644658 cites W2907032018 @default.
• W4281644658 cites W2946308935 @default.
• W4281644658 cites W2949785910 @default.
• W4281644658 cites W2950198531 @default.
• W4281644658 cites W2952686929 @default.
• W4281644658 cites W2960372990 @default.
• W4281644658 cites W2981587292 @default.
• W4281644658 cites W2991132749 @default.
• W4281644658 cites W2993193153 @default.
• W4281644658 cites W3029472550 @default.
• W4281644658 cites W3134771351 @default.
• W4281644658 cites W3157163834 @default.
• W4281644658 cites W3157989579 @default.
• W4281644658 cites W4247665917 @default.
• W4281644658 doi "https://doi.org/10.1038/s41398-022-02018-5" @default.
• W4281644658 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35680849" @default.
• W4281644658 hasPublicationYear "2022" @default.
• W4281644658 type Work @default.
• W4281644658 citedByCount "2" @default.
• W4281644658 countsByYear W42816446582022 @default.
• W4281644658 countsByYear W42816446582023 @default.
• W4281644658 crossrefType "journal-article" @default.
• W4281644658 hasAuthorship W4281644658A5000245279 @default.
• W4281644658 hasAuthorship W4281644658A5000599118 @default.
• W4281644658 hasAuthorship W4281644658A5003455118 @default.
• W4281644658 hasAuthorship W4281644658A5009431828 @default.
• W4281644658 hasAuthorship W4281644658A5009790275 @default.
• W4281644658 hasAuthorship W4281644658A5010581654 @default.
• W4281644658 hasAuthorship W4281644658A5026823297 @default.
• W4281644658 hasAuthorship W4281644658A5031538439 @default.
• W4281644658 hasAuthorship W4281644658A5031953031 @default.
• W4281644658 hasAuthorship W4281644658A5036234656 @default.
• W4281644658 hasAuthorship W4281644658A5038515289 @default.
• W4281644658 hasAuthorship W4281644658A5041811133 @default.
• W4281644658 hasAuthorship W4281644658A5042830500 @default.
• W4281644658 hasAuthorship W4281644658A5061411374 @default.
• W4281644658 hasAuthorship W4281644658A5062455628 @default.

• next