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Age-related diseases/traits from published papers merged and standardized with MeSH terms

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Last update 3/24/2023

Age-related traits

This is a repository for age-related disease (ARD) and trait (ART) set.

Introduction

Fig. Aging is the single greatest risk factor for age-related disease, and it is well established that conserved genetic pathways of aging impact multiple age-related pathologies in model organisms, but the role of conserved pathways of aging in human age-related disease is unclear.

Translation of Trait Terms to MeSH

The MeSH metadata8 provides a standardized vocabulary of medical terms with hierarchical categories, including biomedical information, including diseases, anatomy, chemicals and drugs, phenomena and processes, etc. (Lowe and Barnett, 1994). The 463 ARTs were queried to both the ‘‘Search’’9 and ‘‘MeSH on Demand’’10 functions on the MeSH webpage. The ART-MeSH term pairs are equivalent 1-to-1 matches with the following 4 non-equivalent pair instances;

  • (1) some specific traits with no equivalent MeSH terms are mapped to parental MeSH terms (e.g., “Fracture of hand or wrist” mapped to “fracture” in MeSH terms);
  • (2) some non-disease ARTs with no equivalent MeSH terms are alternatively mapped to MeSH anatomy, chemical, diagnosis, or phenomena terms (e.g., “Abnormal chest sounds” and “Stiffness of joint” mapped to “thorax” and “ankle joint” in MeSH terms, respectively);
  • (3) co-morbidity traits with a common cause are mapped to the causal MeSH disease (e.g., “Hypertensive heart and/or renal disease” mapped to “hypertension” in MeSH terms); and
  • (4) some ambiguous co-morbidity traits are mapped to one of those equivalent MeSH disease terms (e.g., “Cardiac arrest & ventricular fibrillation” mapped to “heart arrest” in MeSH terms). The ARTs were also independently mapped to relative MeSH anatomy terms by a 1-to-1 match. Some co-morbidity traits are mapped to one selected disease tissue (e.g., “cancer of kidney and urinary organs” mapped to “kidney” in MeSH terms).

Summary statistics

This resources collectively includes 623 ARDs and ARTs mapped with 365 MeSH terms. Below 15 traits were excluded from the original list, because 8 traits from Chang 2019 and 7 traits from Donertas 2020 were irrelevant (e.g., 2 congenital diseases, 8 injuries, and a trauma) or unclear (5 traits).

Table S1. 15 excluded traits

Study Trait Reason for exclusion
Chang 2019 Congenital musculoskeletal and limb anomalies Congenital disease
Chang 2019 Digestive congenital anomalies Congenital disease
Chang 2019 Drowning Injury
Chang 2019 Environmental heat and cold exposure Injury
Chang 2019 Falls Injury
Chang 2019 Foreign body in other body part Injury
Chang 2019 Other transport injuries Injury
Chang 2019 Other unintentional injuries Injury
Donertas 2020 Haematology Unclear trait
Donertas 2020 Liver/biliary/pancreas problem Unclear trait
Donertas 2020 Muscle or soft tissue injuries Injury
Donertas 2020 Muscle/soft tissue problem Unclear trait
Donertas 2020 Musculoskeletal/trauma trauma
Donertas 2020 Neck problem/injury Injury
Donertas 2020 Neurology/eye/psychiatry Unclear trait

Table 1. Count of MeSH by studies

Study Count of ARTs
Kim 2021 463
Chang 2019 81
Donertas 2021 69
Johnson 2015 36
Grand Total 649

Table 2. Count of MeSH by categories

MeSH category Count of MeSH term
Disease 329
Chemical 11
Diagnosis 9
Anatomy 8
Phenomena 5
Psychiatry 3
Grand Total 365

Table 3. Count of MeSH by groups

MeSH group Count of MeSH term
Neoplasms 57
Cardiovascular Diseases 46
Nervous System Diseases 32
Male Urogenital Diseases 24
Musculoskeletal Diseases 24
Eye Diseases 21
Digestive System Diseases 20
Respiratory Tract Diseases 17
Pathological Conditions, Signs and Symptoms 14
Nutritional and Metabolic Diseases 14
Skin and Connective Tissue Diseases 12
Infections 12
Chemical 11
Endocrine System Diseases 9
Diagnosis 9
Hemic and Lymphatic Diseases 8
Anatomy 7
Otorhinolaryngologic Diseases 7
Phenomena 5
Female Urogenital Diseases and Pregnancy Complications 4
Wounds and Injuries 3
Psychiatry 3
Amino Acids, Peptides, and Proteins 2
Stomatognathic Diseases 2
Behavior and Behavior Mechanisms 1
Digestive System 1
Grand Total 365

Table 4. Count of MeSH by anatomy categories

Anatomy category Count of MeSH term
Cardiovascular System 49
Nervous System 41
Digestive System 40
Urogenital System 39
Hemic and Immune Systems 30
Sense Organs 29
Respiratory System 27
Fluids and Secretions 25
Musculoskeletal System 23
Unspecified 21
Integumentary System 18
Body Regions 9
Endocrine System 8
Connective Tissue 5
Epithelium 1
Grand Total 365

Download

  • ARD.tsv: Merged table for ARDs and ARTs by studies [Download]
  • ARD_MeSH.tsv: Pivot table for unique MeSH terms [Download]
  • ARD-v4.xlsx: Original working excel file [Download]

Citation

If you use this resource, please cite below all reference.

Author Cite
Kim 2021 Kim, Seung-Soo, et al. "A compendium of age-related PheWAS and GWAS traits for human genetic association studies, their networks and genetic correlations." Frontiers in Genetics 12 (2021): 842. Doi: 10.3389/fgene.2021.680560
Donertas 2021 Dönertaş, Handan Melike, et al. "Common genetic associations between age-related diseases." Nature Aging 1.4 (2021): 400-412. Doi: 10.1038/s43587-021-00051-5
Chang 2019 Chang, Angela Y., et al. "Measuring population ageing: an analysis of the global burden of disease study 2017." The Lancet Public Health 4.3 (2019): e159-e167. Doi: 10.1016/S2468-2667(19)30019-2
Johnson 2015 Johnson, Simon C., et al. "Genetic evidence for common pathways in human age‐related diseases." Aging cell 14.5 (2015): 809-817. Doi: 10.1111/acel.12362

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