Evidence mapPaperPMID 39531041Full record

ArticleDiabetologia2025

Type 2 diabetes pathway-specific polygenic risk scores elucidate heterogeneity in clinical presentation, disease progression and diabetic complications in 18,217 Chinese individuals with type 2 diabetes.

Gechang Yu, Claudia H T Tam, Cadmon K P Lim, Mai Shi, Eric S H Lau, Risa Ozaki, Heung-Man Lee, Alex C W Ng, Yong Hou, Baoqi Fan and 32 more

Abstract read
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Article in Diabetologia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

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0cells of the map it votes in
11citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed.

  1. Genetic basis of Asian diabetes.Journal of diabetes investigation · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

42 authors.

Gechang YuDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Claudia H T TamDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Cadmon K P LimDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Mai ShiDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Eric S H LauDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Risa OzakiDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Heung-Man LeeDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Alex C W NgDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Yong HouDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Baoqi FanDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Chuiguo HuangDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Hongjiang WuDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Aimin YangDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Hoi Man CheungDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Ka Fai LeeDepartment of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong, China.
Shing Chung SiuDiabetes Centre, Tung Wah Eastern Hospital, Hong Kong, China.
Grace HuiDiabetes Centre, Tung Wah Eastern Hospital, Hong Kong, China.
Chiu Chi TsangDiabetes and Education Centre, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, China.
Kam Piu LauNorth District Hospital, Hong Kong, China.
Jenny Y Y LeungDepartment of Medicine and Geriatrics, Ruttonjee Hospital, Hong Kong, China.
Elaine Y N CheungDepartment of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.
Man Wo TsangDepartment of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.
Grace KamDepartment of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.
Ip Tim LauTseung Kwan O Hospital, Hong Kong, China.
June K Y LiDepartment of Medicine, Yan Chai Hospital, Hong Kong, China.
Vincent T F YeungCentre for Diabetes Education and Management, Our Lady of Maryknoll Hospital, Hong Kong, China.
Emmy LauDepartment of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China.
Stanley LoDepartment of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China.
Samuel FungDepartment of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, China.
Yuk Lun ChengDepartment of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, China.
Cheuk Chun SzetoDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Hong Kong Diabetes Biobank Study Group
Elaine ChowDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Alice P S KongDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Wing Hung TamDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Andrea O Y LukDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Michael N WeedonUniversity of Exeter Medical School, Exeter, UK.
Wing-Yee SoDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Juliana C N ChanDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Richard A OramUniversity of Exeter Medical School, Exeter, UK.
Ronald C W MaDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China. rcwma@cuhk.edu.hk.
TRANSCEND Consortium

Funding

Chinese University of Hong Kong Direct GrantChinese University of Hong Kong Focused Innovation SchemeChinese University of Hong Kong Internationalisation Faculty Mobility SchemeChinese University of Hong Kong Provost's Scheme for PhD scholarship of the ChinChinese University of Hong Kong Research Committee Postdoctoral Fellowship SchemeCroucher Foundation Croucher Foundation Senior Medical Research FellowFood and Health Bureau HealthFood and Health Bureau Medical Research Fund (CFS-CUHK2)Research Grants Council, University Grants Committee Research Impact Fund (CU R4012-18)Research Grants Council, University Grants Committee Theme-based Research Scheme (T12-402/13N)Research Grants Council, University Grants Committee University Grants Matching Scheme
6 · The paper itself

Abstract

aims/hypothesisType 2 diabetes is a complex and heterogeneous disease and the aetiological components underlying the heterogeneity remain unclear in the Chinese and East Asian population. Therefore, we aimed to investigate whether specific pathophysiological pathways drive the clinical heterogeneity in type 2 diabetes.

methodsWe employed newly developed type 2 diabetes hard-clustering and soft-clustering pathway-specific polygenic risk scores (psPRSs) to characterise individual genetic susceptibility to pathophysiological pathways implicated in type 2 diabetes in 18,217 Chinese patients from Hong Kong. The 'total' type 2 diabetes polygenic risk score (PRS) was summed by genome-wide significant type 2 diabetes signals (n=1289). We examined the associations between psPRSs and cardiometabolic profile, age of onset, two glycaemic deterioration outcomes (clinical requirement of insulin treatment, defined by two consecutive HbA

resultsAlthough most psPRSs and total type 2 diabetes PRS were associated with an earlier and younger onset of type 2 diabetes, the psPRSs showed distinct associations with clinical outcomes. In particular, individuals with normal weight showed higher psPRSs for beta cell dysfunction and lipodystrophy than those who were overweight. The psPRSs for obesity were associated with faster progression to clinical requirement of insulin treatment (adjusted HR [95% CI] 1.09 [1.05, 1.13], p<0.0001), end-stage renal disease (1.10 [1.04, 1.16], p=0.0007) and CVD (1.10 [1.05, 1.16], p<0.0001) while the psPRSs for beta cell dysfunction were associated with reduced incident end-stage renal disease (0.90 [0.85, 0.95], p=0.0001) and heart failure (0.83 [0.73, 0.93], p=0.0011). Major findings remained significant after adjusting for a set of clinical variables. CONCLUSIONS/

interpretationBeta cell dysfunction and lipodystrophy could be the driving pathological pathways in type 2 diabetes in individuals with normal weight. Genetic risks of beta cell dysfunction and obesity represent two major genetic drivers of type 2 diabetes heterogeneity in disease progression and diabetic complications, which are shared across ancestry groups. Type 2 diabetes psPRSs may help inform patient stratification according to aetiology and guide precision diabetes care.

Indexed as

Diabetes ComplicationsDiabetes Mellitus, Type 2Multifactorial InheritanceAdultAgedDisease ProgressionEast Asian PeopleFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreGenome-Wide Association StudyHong KongHumansMaleMiddle AgedRisk FactorsChinese populationDiabetic complicationsDisease progressionHeterogeneityPathway-specific polygenic risk scoreType 2 diabetes

Identifiers

PMID39531041
PMCPMC11832604

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.