{"doi":"10.1002/mgg3.1267","title":"Whole‐exome sequencing and genome‐wide association studies identify novel sarcopenia risk genes in Han Chinese","abstract":"Abstract Sarcopenia is a complex polygenic disease, and its molecular mechanism is still unclear. Whole lean body mass (WLBM) is a heritable trait predicting sarcopenia. To identify genomic loci underlying, we performed a whole‐exome sequencing (WES) of WLBM variation with high sequencing depth (more than 40*) in 101 Chinese subjects. We then replicated in the major findings in the large‐scale UK Biobank (UKB) cohort ( N = 217,822) for WLBM. The results of four single‐nucleotide polymorphisms (SNPs) were significant both in the discovery stage and replication stage: SNP rs740681 (discovery p = 1.66 × 10 –6 , replication p = .05), rs2272303 (discovery p = 3.20 × 10 –4 , replication p = 3.10 × 10 –4 ), rs11170413 (discovery p = 3.99 × 10 –4 , replication p = 2.90 × 10 –4 ), and rs2272302 (discovery p = 9.13 × 10 –4 , replication p = 3.10 × 10 –4 ). We combined p values of the significant SNPs. Functional annotations highlighted two candidate genes, including FZR1 and SOAT2 , that may exert pleiotropic effects to the development of body mass. Our findings provide useful insights that further enhance our understanding of genetic interplay in sarcopenia.","journal":"Molecular Genetics & Genomic Medicine","year":2020,"id":90013,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":8,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9322,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":454449,"name":"Xiao He","orcid":"0000-0002-7236-1572","position":1,"is_corresponding":false},{"id":454450,"name":"Zixuan Jiang","orcid":"0000-0002-5291-6286","position":2,"is_corresponding":false},{"id":454451,"name":"Yu Liu","orcid":"0000-0003-2146-6865","position":3,"is_corresponding":false},{"id":454452,"name":"Yu‐Xue Zhang","orcid":"0000-0001-5053-6100","position":4,"is_corresponding":false},{"id":237046,"name":"Lei Zhang","orcid":"0000-0002-1007-4834","position":5,"is_corresponding":false},{"id":455614,"name":"Gui‐Shan Gu","orcid":null,"position":6,"is_corresponding":false},{"id":237043,"name":"Yu‐Fang Pei","orcid":"0000-0002-9157-0759","position":7,"is_corresponding":false},{"id":455615,"name":"Bao‐Lin Liu","orcid":null,"position":8,"is_corresponding":false},{"id":454453,"name":"Qing Tian","orcid":"0000-0003-2795-363X","position":9,"is_corresponding":false},{"id":455616,"name":"Yong‐Hong Zhang","orcid":null,"position":10,"is_corresponding":false},{"id":284316,"name":"Jingyu Wang","orcid":"0000-0002-8056-2251","position":11,"is_corresponding":false},{"id":428809,"name":"Hong‐Wen Deng","orcid":"0000-0002-7782-2956","position":12,"is_corresponding":false},{"id":454448,"name":"Shu Ran","orcid":"0000-0002-6208-660X","position":0,"is_corresponding":true}],"reference_count":39,"raw_metadata":null,"created_at":"2026-07-18T22:02:48.683291Z","pmid":"32478482","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}