主题
FinnGen R9 · 糖尿病并发症 endpoint 清单（中英对照）
FinnGen R9 — Diabetic Complication Outcome Endpoints (bilingual)
Exposure 暴露: UKB-PPP cis-pQTL (N=34,557 discovery, European; 面板 2,923 蛋白，1,659 有 cis 工具) · Method 方法: two-sample MR, single-SNP Wald ratio Case/control counts from the official FinnGen R9 manifest; long names are the official FinnGen endpoint definitions. 病例/对照数取自官方 FinnGen R9 manifest；长名为 FinnGen 官方 endpoint 定义。
1. Selection principle 选择原则
EN — Primary outcomes are the FinnGen diabetes-specific complication endpoints (DM_* prefix), chosen to systematically cover the clinically recognised complications of diabetes across every affected organ system: eye (microvascular), nerve, kidney, peripheral vasculature, and acute metabolic events, plus a composite endpoint. We additionally include age-related macular degeneration (H7_AMD) as a non-diabetes-specific eye endpoint for the AMD sensitivity/differentiation analysis, and the base diseases T1D/T2D (FinnGen combined definitions plus external GWAS) as reference/validation. All DM_* endpoints available in R9 that belong to these categories were included; none were dropped for convenience.
中文 — 主结局为 FinnGen 糖尿病专属并发症 endpoint（DM_* 前缀），按"糖尿病累及的各器官系统"系统性覆盖：眼（微血管）、神经、肾、外周血管、急性代谢事件，以及一个综合并发症终点。另外纳入老年黄斑变性（H7_AMD）作为非糖尿病特异的眼病终点，用于 AMD 敏感性/差异化分析；并纳入基础病 T1D/T2D（FinnGen 合并定义 + 外部 GWAS）作参考/验证。R9 中属于上述类别的所有 DM_* 终点均已纳入，未因方便而删减。
2. Endpoint inventory 结局清单
| Code (phenocode) | English name (official) | 中文名 | Category 类别 | Cases 病例 | Controls 对照 | Sig. 显著 |
|---|---|---|---|---|---|---|
| DM_RETINOPATHY_EXMORE | Diabetic retinopathy (more control exclusions) | 糖尿病视网膜病变 | eye 眼 | 10,413 | 308,633 | 24 |
| DM_MACULOPATHY_EXMORE | Diabetic maculopathy (more control exclusions) | 糖尿病黄斑病变 | eye 眼 | 3,572 | 308,547 | 19 |
| DM_RETINA_PROLIF | Proliferative diabetic retinopathy | 增殖性糖尿病视网膜病变 | eye 眼 | 9,511 | 362,581 | 7 |
| DM_RETINA_NOS | Unspecified diabetic retinopathy | 未特指的糖尿病视网膜病变 | eye 眼 | 3,494 | 366,864 | 19 |
| DM_NEOVASCULAR_GLAUCOMA | Neovascular glaucoma | 新生血管性青光眼 | eye 眼 | 1,100 | 366,206 | 0 |
| DM_VITREOUS_BLEEDING | Vitreous bleeding (from prolif. DR with H36.03*) | 玻璃体积血 | eye 眼 | 2,820 | 365,572 | 2 |
| DM_RET_VEIN_OCCLU | Retinal vein occlusion (central or branch) | 视网膜静脉阻塞 | eye 眼 | 775 | 308,633 | 0 |
| DM_RET_ART_OCCLU_BRANCH | Retinal artery occlusion (branch) | 视网膜动脉分支阻塞 | eye 眼 | 201 | 308,633 | 0 |
| DM_RET_ART_OCCLU_MAIN | Retinal artery occlusion (main artery) | 视网膜中央动脉阻塞 | eye 眼 | 181 | 308,633 | 0 |
| H7_AMD | Age-related macular degeneration (dry or wet) | 老年黄斑变性（非糖尿病特异） | eye 眼 | 8,913 | 348,936 | 16 |
| DM_NEUROPATHY | Diabetic neuropathy | 糖尿病神经病变 | neuro 神经 | 2,843 | 271,817 | 5 |
| DM_POLYNEURO | Diabetic polyneuropathy | 糖尿病多神经病变 | neuro 神经 | 1,048 | 374,434 | 1 |
| DM_MONONEURO | Diabetic mononeuropathy | 糖尿病单神经病变 | neuro 神经 | 121 | 374,434 | 0 |
| DM_AUTONOMIC | Diabetic autonomic neuropathy | 糖尿病自主神经病变 | neuro 神经 | 111 | 374,434 | 0 |
| DM_NEPHROPATHY_EXMORE | Diabetic nephropathy (more control exclusions) | 糖尿病肾病 | renal 肾 | 4,111 | 308,539 | 9 |
| DM_PERIPH_ANGIOPATHY | Peripheral angiopathy | 外周血管病变 | systemic 全身 | 2,514 | 271,817 | 2 |
| DM_KETOACIDOSIS | Diabetic ketoacidosis | 糖尿病酮症酸中毒 | systemic 全身 | 7,841 | 271,817 | 28 |
| DM_HYPOGLYC | Diabetic hypoglycemia | 糖尿病低血糖 | systemic 全身 | 7,332 | 271,817 | 9 |
| DM_SEVERAL_COMPLICATIONS | Diabetes, several complications | 糖尿病多种并发症合并 | systemic 全身 | 16,320 | 271,817 | 15 |
| T1D | Type 1 diabetes, definitions combined | 1型糖尿病（合并定义） | base 基础病 | 4,196 | 308,252 | 27 |
| T2D | Type 2 diabetes, definitions combined | 2型糖尿病（合并定义） | base 基础病 | 57,698 | 308,252 | 72 |
| 已退役 | base 基础病 | |||||
| GCST90824163 | Type 1 diabetes (external GWAS, McGrail Nat Genet 2026) | 1型糖尿病（外部GWAS，现用） | base 基础病 | 20,355 | 797,363 | 57 |
| Mahajan2018 noUKBB | Type 2 diabetes (DIAMANTE European, excl. UKBB) | 2型糖尿病（外部GWAS） | base 基础病 | 55,005 | 400,308 | 7 |
Sig. = number of proteins with FDR < 0.05 in the single-SNP Wald screen. 显著 = 单SNP Wald 筛查中 FDR < 0.05 的蛋白数。
3. Definition notes 定义说明
_EXMORE= "more control exclusions" 更多对照排除：controls additionally exclude related diseases to reduce contamination, giving a cleaner case–control contrast. 对照额外排除相关疾病以减少污染，病例–对照对比更干净。T1D/T2D= "definitions combined" 合并定义：the FinnGen base T1D/T2D endpoints combine several sub-definitions and are therefore comparatively broad/heterogeneous. This is why the study used external, purpose-built GWAS (GCST for T1D, Mahajan/DIAMANTE for T2D) as the primary T1D/T2D reference. FinnGen 基础 T1D/T2D 合并了多个子定义，相对偏"广义/异质"；这也是本研究用外部专用 GWAS（T1D 用 GCST、T2D 用 Mahajan/DIAMANTE）作为 T1D/T2D 主参考的原因。H7_AMDis not a diabetes-specific endpoint; included for the AMD analysis line.H7_AMD非糖尿病特异，用于 AMD 分析支线。
4. Power caveat 功效提示
EN — Four eye/nerve endpoints have very low case counts and are expected to be underpowered (0 significant proteins): retinal artery occlusion (main 181 / branch 201), autonomic neuropathy (111), mononeuropathy (121). They are reported for completeness; null findings should not be interpreted as evidence of no effect.
中文 — 四个眼/神经终点病例数极少、功效不足（0 显著蛋白）：视网膜中央/分支动脉阻塞（181/201）、自主神经病变（111）、单神经病变（121）。列出以求完整；其阴性结果不应解读为"无效应"的证据。
5. Source & reproducibility 来源与可复现
- Endpoint definitions / full ICD codes 完整 ICD 定义: FinnGen Risteys R9 —
https://r9.risteys.finngen.fi/endpoints/<CODE> - Summary statistics 汇总统计:
https://storage.googleapis.com/finngen-public-data-r9/summary_stats/finngen_R9_<CODE>.gz - Case/control counts 病例数来源: FinnGen R9 official manifest (
R9_manifest.tsv) - Config 配置:
outcome_manifest.csv(release=R9) · Pipeline:analysis/01_screen.R R9