Article(id=1311350168713266000, tenantId=1146029695717560320, journalId=1227665162245664772, issueId=1311349984730116963, articleNumber=null, orderNo=null, doi=10.20043/j.cnki.MPM.202601227, pmid=null, cstr=null, oa=null, hot=null, price=null, onlineType=0, articleFormat=0, articleType=null, articleTypeStr=null, receivedDate=1768320000000, receivedDateStr=2026-01-14, revisedDate=null, revisedDateStr=null, acceptedDate=null, acceptedDateStr=null, onlineDate=1790579843928, onlineDateStr=2026-09-28, pubDate=1784908800000, pubDateStr=2026-07-25, doiRegisterDate=null, doiRegisterDateStr=null, onlineIssueDate=1790579843928, onlineIssueDateStr=2026-09-28, onlineJustAcceptDate=null, onlineJustAcceptDateStr=null, onlineFirstDate=null, onlineFirstDateStr=null, sourceXml=null, magXml=null, createTime=1790579843928, creator=13701087609, updateTime=1790579843928, updator=13701087609, issue=Issue{id=1311349984730116963, tenantId=1146029695717560320, journalId=1227665162245664772, year='2026', volume='53', issue='14', pageStart='2497', pageEnd='2688', issueExtLink='null', onlineDate='null', pubDate='1784908800000', pubDateStr='2026-07-25', beforeIssueId=null, nextIssueId=null, price=null, status=1, issueComplete=1, articleOrder=1, issueType=-1, specialIssue=null, createTime=1790579800064, creator='13701087609', updateTime=1790588348354, updator='13701087609', preIssue=null, nextIssue=null, articleTotal=null, ext={EN=IssueExt(id=1311385838924169506, tenantId=1146029695717560320, journalId=1227665162245664772, issueId=1311349984730116963, language=EN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=), CN=IssueExt(id=1311385838924169507, tenantId=1146029695717560320, journalId=1227665162245664772, issueId=1311349984730116963, language=CN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=)}, issueFiles=null, downloadFileDto=null}, startPage=2639, endPage=2647, ext={EN=ArticleExt(id=1311350170596508497, articleId=1311350168713266000, tenantId=1146029695717560320, journalId=1227665162245664772, language=EN, title=Genome-wide cross-trait association analysis reveals the shared genetic architecture between alcohol consumption and bone mineral density, columnId=1228016572451718132, journalTitle=Modern Preventive Medicine, columnName=Health and Social Behavior, runingTitle=null, highlight=null, articleAbstract=
Objective To systematically investigate the genetic association and shared biological mechanisms between weekly alcohol consumption (DrnkWk) and estimated heel bone mineral density (eBMD) in adults.
Methods Leveraging large-scale genome-wide association study (GWAS) summary statistics from the UK Biobank and the GSCAN consortium, we integrated linkage disequilibrium score regression (LDSC), local genetic correlation analysis (SUPERGNOVA), cross-trait meta-analysis (PLEIO), gene-based association analysis (MAGMA), and bidirectional two-sample Mendelian randomization (MR) to comprehensively assess global and local genetic correlations, pleiotropic loci, and causal relationships between DrnkWk and eBMD.
Results No significant genome-wide genetic correlation was observed (rg=-0.018, 95%CI: -0.050-0.014, P=0.26); while SUPERGNOVA identified 3 genomic regions with significant local genetic correlations. PLEIO revealed 35 pleiotropic loci (including 9 novel loci), and MAGMA implicated 30 shared genes. Bidirectional MR provided no evidence of a causal effect (forward MR:β=-0.051, P=0.12; reverse MR:β=-0.009, P=0.08).
Conclusion The epidemiological association between alcohol consumption and bone density is likely driven by shared biological pathways and pleiotropic genetic architecture rather than direct causality, offering new insights for genetic risk stratification and targeted prevention strategies for osteoporosis.
, authors=Si-rui ZHENG
1, Tao HAN
1, Ting YU
2, Jin-yu ZHOU
1, Xia JIANG
1, 2, Qin ZHAO
3, authorsList=Si-rui ZHENG, Tao HAN, Ting YU, Jin-yu ZHOU, Xia JIANG, Qin ZHAO, authorCompany=null, correspAuthors=Qin ZHAO, authorNote=null, correspAuthorsNote=null, copyrightStatement=null, copyrightOwner=null, extLink=null, articleAbsUrl=null, sourceXml=null, magXml=null, pdfUrl=null, pdf=null, pdfFileSize=null, pdfExtLink=null, richHtmlUrl=null, mobilePdfUrl=null, reviewReport=null, pdfFirstPage=null, abstractGraph=null, abstractGraphContent=null, abstractVideo=null, citation=null, cebUrl=null, magXmlContent=null, mapNumber=null, fund=null), CN=ArticleExt(id=1311350171787690838, articleId=1311350168713266000, tenantId=1146029695717560320, journalId=1227665162245664772, language=CN, title=全基因组跨性状关联分析揭示饮酒与骨密度的共享遗传基础, columnId=1228016572640461823, journalTitle=现代预防医学, columnName=健康与社会行为, runingTitle=null, highlight=null, articleAbstract=
目的 系统解析每周饮酒量(DrnkWk)与成人估算骨密度(eBMD)的遗传关联及共享机制。
方法 基于英国生物银行和GSCAN联盟的大规模全基因组关联研究汇总数据,采用连锁不平衡分数回归(LDSC)、局部遗传相关性分析(SUPERGNOVA)、跨性状荟萃分析(PLEIO)、基因水平关联分析(MAGMA)及双向孟德尔随机化(MR)方法,全面评估DrnkWk与eBMD的遗传相关性、多效性基因位点及因果关联。
结果 DrnkWk与eBMD在全基因组水平未观察到显著遗传相关性(rg=-0.018, 95% CI: -0.050~0.014, P=0.26),但SUPERGNOVA鉴定出3个显著信号区域。PLEIO共发现35个多效性位点(含9个新发位点),MAGMA分析识别出30个显著的多效性基因。双向MR分析未发现两性状间存在显著因果关联(正向MR:β=-0.051, P=0.12;反向MR:β=-0.009, P=0.08)。
结论 饮酒与骨密度的流行病学关联主要源于共享的生物学通路与多效性遗传架构,而非直接因果效应,为骨质疏松的遗传风险分层与靶向干预提供了新思路。
, authors=郑思睿
1, 韩韬
1, 于婷
2, 周进宇
1, 姜侠
1, 2, 赵琴
3, authorsList=郑思睿, 韩韬, 于婷, 周进宇, 姜侠, 赵琴, authorCompany=null, correspAuthors=赵琴, authorNote=
郑思睿(2000—),女,硕士在读,研究方向:营养与食品卫生学
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本刊刊出的所有文章不代表中华预防医学会和本刊编委会的观点,除非特别声明。, copyrightOwner=中华预防医学会和四川大学华西公共卫生学院, extLink=null, articleAbsUrl=null, sourceXml=2NFJKix6yKIrqvZgtnNb4g==, magXml=RhmUmF+lOLXCgm+/ObSn/g==, pdfUrl=null, pdf=fuERYgfqTYZLBdvGH028ag==, pdfFileSize=882638, pdfExtLink=null, richHtmlUrl=null, mobilePdfUrl=null, reviewReport=null, pdfFirstPage=null, abstractGraph=k2wTFYZ3b6bPWZAhnG2Pwg==, abstractGraphContent=null, abstractVideo=null, citation=null, cebUrl=null, magXmlContent=VhjPgu6ZvNKIdEBu7ptRtw==, mapNumber=null, fund=null)}, authors=[Author(id=1311350172517499743, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, orderNo=0, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1311350172592997217, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, authorId=1311350172517499743, language=EN, stringName=Si-rui ZHENG, firstName=Si-rui, middleName=null, lastName=ZHENG, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=
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1.四川大学华西公共卫生学院/四川大学华西第四医院营养与食品卫生学,四川 成都 610041)]), AuthorCompany(id=1311350172337144666, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, xref=2., ext=[AuthorCompanyExt(id=1311350172345533275, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, companyId=1311350172337144666, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=
2.四川大学华西公共卫生学院/四川大学华西第四医院流行病与统计学)]), AuthorCompany(id=1311350172442002268, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, xref=3., ext=[AuthorCompanyExt(id=1311350172450390877, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, companyId=1311350172442002268, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=
3.四川大学华西公共卫生学院/四川大学华西第四医院超声医学科)])], figs=[ArticleFig(id=1311350176460145543, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=EN, label=Fig.1, caption=
Results of genetic correlation analysis, figureFileSmall=pFrAhVZfnhbt0ueFVtBmtg==, figureFileBig=k2wTFYZ3b6bPWZAhnG2Pwg==, tableContent=null), ArticleFig(id=1311350176531448712, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=CN, label=图1, caption=
遗传相关性分析结果, figureFileSmall=pFrAhVZfnhbt0ueFVtBmtg==, figureFileBig=k2wTFYZ3b6bPWZAhnG2Pwg==, tableContent=null), ArticleFig(id=1311350176745358217, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=EN, label=Fig.2, caption=
MR Analysis results, figureFileSmall=10nKONa1AiGte2o9Sq5x3g==, figureFileBig=443ODlRerzgiUKoz2svXcQ==, tableContent=null), ArticleFig(id=1311350176812467082, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=CN, label=图2, caption=
MR分析结果, figureFileSmall=10nKONa1AiGte2o9Sq5x3g==, figureFileBig=443ODlRerzgiUKoz2svXcQ==, tableContent=null), ArticleFig(id=1311350176883770251, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=EN, label=Table 1, caption=
Source and description of GWAS summary statistics
, figureFileSmall=null, figureFileBig=null, tableContent=
| 暴露 | 样本量 | 人群 | 参考基因组序列 | PMID |
|---|
| 每周饮酒量 | 2 428 851 | 欧洲人群 | GRCh37 | 36 477 530 |
| 估算骨密度 | 462 824 | 欧洲人群 | GRCh37 | 30 598 549 |
), ArticleFig(id=1311350176959267724, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=CN, label=表1, caption=
GWAS汇总数据来源和描述
, figureFileSmall=null, figureFileBig=null, tableContent=
| 暴露 | 样本量 | 人群 | 参考基因组序列 | PMID |
|---|
| 每周饮酒量 | 2 428 851 | 欧洲人群 | GRCh37 | 36 477 530 |
| 估算骨密度 | 462 824 | 欧洲人群 | GRCh37 | 30 598 549 |
), ArticleFig(id=1311350177038959501, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=EN, label=Table 2, caption=
Significant Pleiotropic loci between DrnkWk and eBMD
, figureFileSmall=null, figureFileBig=null, tableContent=
| SNP | 染色体 | 碱基位置 | 效应/非效应等位基因 | DrnkWk |
|---|
| β | P值 |
|---|
| 已知的共享SNPs(在两个性状中均显著且PPLEIO<5×10-8的SNPs) |
| rs10066412 | 5 | 51304343 | T/A | -0.01 | 5.34×10-09 |
| rs10491278 | 5 | 132884744 | C/A | -0.01 | 2.96×10-08 |
| rs10838613 | 11 | 46690228 | C/A | -0.01 | 9.92×10-09 |
| rs7107356 | 11 | 47654618 | G/A | 0.01 | 1.12×10-16 |
| rs56094641 | 16 | 53772541 | G/A | -0.01 | 1.06×10-10 |
| rs2684641 | 17 | 45442752 | G/A | -0.02 | 1.31×10-20 |
| rs55938136 | 17 | 45720994 | G/A | -0.02 | 1.22×10-27 |
| rs62641967 | 17 | 45969850 | G/T | -0.03 | 1.74×10-30 |
| rs1378358 | 17 | 46709946 | T/C | -0.02 | 3.83×10-25 |
| 单性状驱动的共享SNPs(在单一性状中均显著且PPLEIO<5×10-8的SNPs) |
| rs6691053 | 1 | 173899817 | T/C | -0.01 | 1.24×10-10 |
| rs72808612 | 2 | 54808212 | C/T | 0.02 | 7.92×10-07 |
| rs2048370 | 2 | 54659468 | C/T | 0.01 | 9.25×10-06 |
| rs112828099 | 3 | 142438693 | A/G | 0.01 | 1.68×10-06 |
| rs2726518 | 4 | 105252042 | C/A | -0.01 | 4.97×10-06 |
| rs16877149 | 8 | 108077969 | A/G | -0.01 | 9.64×10-06 |
| rs2005617 | 9 | 33791166 | C/T | -0.01 | 2.48×10-06 |
| rs35677603 | 11 | 47246759 | T/C | -0.01 | 6.27×10-11 |
| rs11228240 | 11 | 68450822 | T/C | -0.01 | 8.22×10-06 |
| rs11169162 | 12 | 49813343 | C/T | -0.01 | 1.70×10-06 |
| rs28929474 | 14 | 94378610 | T/C | -0.05 | 3.28×10-14 |
| rs78733883 | 16 | 69412045 | A/G | -0.02 | 1.37×10-06 |
| rs9788803 | 16 | 69658092 | T/A | 0.01 | 3.44×10-07 |
| rs112111542 | 17 | 2287092 | C/T | 0.01 | 8.62×10-06 |
| 连锁不平衡的共享SNPs(单一性状GWAS未达到全基因组显著性水平但Psingle-trait<1.0×10-5,PPLEIO<5×10-8,且与已知SNPs连锁不平衡) |
| rs2300669 | 3 | 38499827 | A/C | -0.01 | 3.12×10-07 |
| rs2880663 | 16 | 24766425 | T/G | -0.01 | 5.94×10-06 |
| rs72902690 | 18 | 45186271 | G/A | -0.01 | 2.09×10-07 |
| SNP | eBMD | PPLEIO | 聚类范围内的基因 |
|---|
| β | P值 |
|---|
| 已知的共享SNPs(在两个性状中均显著且PPLEIO<5×10-8的SNPs) |
| rs10066412 | -0.02 | 1.60×10-14 | 3.01×10-33 | ISL1, LOC642366 |
| rs10491278 | 0.02 | 1.80×10-13 | 4.09×10-34 | AFF4, GDF9, HSPA4, LEAP2, SHROOM1, SOWAHA, UQCRQ, ZCCHC10 |
| rs10838613 | -0.03 | 2.70×10-22 | 1.27×10-46 | AMBRA1, ARFGAP2, ARHGAP1, ATG13, C11orf49, CHRM4, CKAP5, CREB3L1, DGKZ, F2, HARBI1, LRP4, LRP4-AS1, MDK, MIR3160-1, MIR3160-2, MIR4688, MIR5582, MIR6745, PACSIN3, SNORD67, ZNF408 |
| rs7107356 | -0.01 | 4.20×10-09 | 4.36×10-25 | AGBL2, C1QTNF4, CELF1, FAM180B, FNBP4, KBTBD4, MTCH2, MYBPC3, NDUFS3, NUP160, PSMC3, PTPMT1, RAPSN, SLC39A13, SPI1 |
| rs56094641 | 0.02 | 6.80×10-20 | 9.78×10-43 | FTO |
| rs2684641 | -0.02 | 2.00×10-20 | 1.32×10-74 | ARHGAP27, MIR4315-1, MIR4315-2, PLEKHM1 |
| rs55938136 | -0.02 | 1.60×10-21 | 1.93×10-76 | CRHR1 |
| rs62641967 | -0.02 | 9.10×10-21 | 5.13×10-87 | CRHR1, CRHR1-IT1, KANSL1, KANSL1-AS1, LOC644172, LRRC37A4P, MAPT, MAPT-AS1, MAPT-IT1, MGC57346, MIR4315-1, MIR4315-2, PLEKHM1, SPPL2C, STH |
| rs1378358 | -0.02 | 2.50×10-17 | 2.63×10-69 | NSF, WNT3 |
| 单性状驱动的共享SNPs(在单一性状中均显著且PPLEIO<5×10-8的SNPs) |
| rs6691053 | -0.02 | 1.60×10-08 | 5.88×10-28 | ANKRD45, CENPL, DARS2, GAS5, GAS5-AS1, KLHL20, LOC730159, RABGAP1L, RC3H1, SERPINC1, SLC9C2, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 |
| rs72808612 | 0.05 | 8.60×10-22 | 1.48×10-42 | EML6, SPTBN1 |
| rs2048370 | 0.04 | 5.50×10-53 | 1.73×10-110 | EML6, RPL23AP32, SPTBN1 |
| rs112828099 | -0.02 | 5.20×10-09 | 2.20×10-21 | ATR, PCOLCE2, PLS1, TRPC1, XRN1 |
| rs2726518 | -0.01 | 2.00×10-10 | 2.29×10-20 | PPA2, TET2 |
| rs16877149 | -0.02 | 3.20×10-10 | 6.52×10-23 | EIF3E, EMC2, RSPO2 |
| rs2005617 | 0.01 | 1.10×10-10 | 5.51×10-17 | DCAF12, KIF24, LINC01251, PRSS3, PTENP1, PTENP1-AS, SNORD121A, SNORD121B, UBAP1, UBAP2, UBE2R2 |
| rs35677603 | -0.01 | 1.40×10-08 | 1.18×10-23 | ACP2, ARFGAP2, C11orf49, DDB2, MADD, MIR6745, MYBPC3, NR1H3, PACSIN3 |
| rs11228240 | -0.04 | 8.00×10-77 | 4.30×10-152 | GAL, LRP5, PPP6R3 |
| rs11169162 | 0.01 | 2.80×10-10 | 2.47×10-20 | BCDIN3D, BCDIN3D-AS1, FAIM2, NCKAP5L |
| rs28929474 | -0.03 | 2.60×10-07 | 5.11×10-25 | PPP4R4, SERPINA1, SERPINA2, SERPINA6, SERPINA10 |
| rs78733883 | 0.03 | 8.10×10-10 | 6.96×10-21 | CHTF8, CIRH1A, COG8, CYB5B, HAS3, MIR1538, NFAT5, NIP7, NOB1, NQO1, PDF, SNTB2, TANGO6, TERF2, TMED6, VPS4A, WWP2 |
| rs9788803 | -0.02 | 6.40×10-12 | 3.40×10-22 | MIR1538, NFAT5, NOB1, NQO1, WWP2 |
| rs112111542 | 0.02 | 5.60×10-10 | 2.70×10-16 | DPH1, HIC1, LOC101927839, MIR132, MIR212, OVCA2, SMG6, SRR |
| 连锁不平衡的共享SNPs(单一性状GWAS未达到全基因组显著性水平但Psingle-trait<1.0×10-5,PPLEIO<5×10-8,且与已知SNPs连锁不平衡) |
| rs2300669 | -0.01 | 5.20×10-06 | 9.25×10-12 | ACVR2B, ACVR2B-AS1, EXOG, XYLB |
| rs2880663 | 0.01 | 3.70×10-07 | 4.10×10-13 | SLC5A11, TNRC6A |
| rs72902690 | 0.01 | 2.20×10-06 | 1.23×10-16 | SETBP1, SLC14A2 |
), ArticleFig(id=1311350177122845582, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=CN, label=表2, caption=
每周饮酒量与估算骨密度间显著的多效性位点
, figureFileSmall=null, figureFileBig=null, tableContent=
| SNP | 染色体 | 碱基位置 | 效应/非效应等位基因 | DrnkWk |
|---|
| β | P值 |
|---|
| 已知的共享SNPs(在两个性状中均显著且PPLEIO<5×10-8的SNPs) |
| rs10066412 | 5 | 51304343 | T/A | -0.01 | 5.34×10-09 |
| rs10491278 | 5 | 132884744 | C/A | -0.01 | 2.96×10-08 |
| rs10838613 | 11 | 46690228 | C/A | -0.01 | 9.92×10-09 |
| rs7107356 | 11 | 47654618 | G/A | 0.01 | 1.12×10-16 |
| rs56094641 | 16 | 53772541 | G/A | -0.01 | 1.06×10-10 |
| rs2684641 | 17 | 45442752 | G/A | -0.02 | 1.31×10-20 |
| rs55938136 | 17 | 45720994 | G/A | -0.02 | 1.22×10-27 |
| rs62641967 | 17 | 45969850 | G/T | -0.03 | 1.74×10-30 |
| rs1378358 | 17 | 46709946 | T/C | -0.02 | 3.83×10-25 |
| 单性状驱动的共享SNPs(在单一性状中均显著且PPLEIO<5×10-8的SNPs) |
| rs6691053 | 1 | 173899817 | T/C | -0.01 | 1.24×10-10 |
| rs72808612 | 2 | 54808212 | C/T | 0.02 | 7.92×10-07 |
| rs2048370 | 2 | 54659468 | C/T | 0.01 | 9.25×10-06 |
| rs112828099 | 3 | 142438693 | A/G | 0.01 | 1.68×10-06 |
| rs2726518 | 4 | 105252042 | C/A | -0.01 | 4.97×10-06 |
| rs16877149 | 8 | 108077969 | A/G | -0.01 | 9.64×10-06 |
| rs2005617 | 9 | 33791166 | C/T | -0.01 | 2.48×10-06 |
| rs35677603 | 11 | 47246759 | T/C | -0.01 | 6.27×10-11 |
| rs11228240 | 11 | 68450822 | T/C | -0.01 | 8.22×10-06 |
| rs11169162 | 12 | 49813343 | C/T | -0.01 | 1.70×10-06 |
| rs28929474 | 14 | 94378610 | T/C | -0.05 | 3.28×10-14 |
| rs78733883 | 16 | 69412045 | A/G | -0.02 | 1.37×10-06 |
| rs9788803 | 16 | 69658092 | T/A | 0.01 | 3.44×10-07 |
| rs112111542 | 17 | 2287092 | C/T | 0.01 | 8.62×10-06 |
| 连锁不平衡的共享SNPs(单一性状GWAS未达到全基因组显著性水平但Psingle-trait<1.0×10-5,PPLEIO<5×10-8,且与已知SNPs连锁不平衡) |
| rs2300669 | 3 | 38499827 | A/C | -0.01 | 3.12×10-07 |
| rs2880663 | 16 | 24766425 | T/G | -0.01 | 5.94×10-06 |
| rs72902690 | 18 | 45186271 | G/A | -0.01 | 2.09×10-07 |
| SNP | eBMD | PPLEIO | 聚类范围内的基因 |
|---|
| β | P值 |
|---|
| 已知的共享SNPs(在两个性状中均显著且PPLEIO<5×10-8的SNPs) |
| rs10066412 | -0.02 | 1.60×10-14 | 3.01×10-33 | ISL1, LOC642366 |
| rs10491278 | 0.02 | 1.80×10-13 | 4.09×10-34 | AFF4, GDF9, HSPA4, LEAP2, SHROOM1, SOWAHA, UQCRQ, ZCCHC10 |
| rs10838613 | -0.03 | 2.70×10-22 | 1.27×10-46 | AMBRA1, ARFGAP2, ARHGAP1, ATG13, C11orf49, CHRM4, CKAP5, CREB3L1, DGKZ, F2, HARBI1, LRP4, LRP4-AS1, MDK, MIR3160-1, MIR3160-2, MIR4688, MIR5582, MIR6745, PACSIN3, SNORD67, ZNF408 |
| rs7107356 | -0.01 | 4.20×10-09 | 4.36×10-25 | AGBL2, C1QTNF4, CELF1, FAM180B, FNBP4, KBTBD4, MTCH2, MYBPC3, NDUFS3, NUP160, PSMC3, PTPMT1, RAPSN, SLC39A13, SPI1 |
| rs56094641 | 0.02 | 6.80×10-20 | 9.78×10-43 | FTO |
| rs2684641 | -0.02 | 2.00×10-20 | 1.32×10-74 | ARHGAP27, MIR4315-1, MIR4315-2, PLEKHM1 |
| rs55938136 | -0.02 | 1.60×10-21 | 1.93×10-76 | CRHR1 |
| rs62641967 | -0.02 | 9.10×10-21 | 5.13×10-87 | CRHR1, CRHR1-IT1, KANSL1, KANSL1-AS1, LOC644172, LRRC37A4P, MAPT, MAPT-AS1, MAPT-IT1, MGC57346, MIR4315-1, MIR4315-2, PLEKHM1, SPPL2C, STH |
| rs1378358 | -0.02 | 2.50×10-17 | 2.63×10-69 | NSF, WNT3 |
| 单性状驱动的共享SNPs(在单一性状中均显著且PPLEIO<5×10-8的SNPs) |
| rs6691053 | -0.02 | 1.60×10-08 | 5.88×10-28 | ANKRD45, CENPL, DARS2, GAS5, GAS5-AS1, KLHL20, LOC730159, RABGAP1L, RC3H1, SERPINC1, SLC9C2, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 |
| rs72808612 | 0.05 | 8.60×10-22 | 1.48×10-42 | EML6, SPTBN1 |
| rs2048370 | 0.04 | 5.50×10-53 | 1.73×10-110 | EML6, RPL23AP32, SPTBN1 |
| rs112828099 | -0.02 | 5.20×10-09 | 2.20×10-21 | ATR, PCOLCE2, PLS1, TRPC1, XRN1 |
| rs2726518 | -0.01 | 2.00×10-10 | 2.29×10-20 | PPA2, TET2 |
| rs16877149 | -0.02 | 3.20×10-10 | 6.52×10-23 | EIF3E, EMC2, RSPO2 |
| rs2005617 | 0.01 | 1.10×10-10 | 5.51×10-17 | DCAF12, KIF24, LINC01251, PRSS3, PTENP1, PTENP1-AS, SNORD121A, SNORD121B, UBAP1, UBAP2, UBE2R2 |
| rs35677603 | -0.01 | 1.40×10-08 | 1.18×10-23 | ACP2, ARFGAP2, C11orf49, DDB2, MADD, MIR6745, MYBPC3, NR1H3, PACSIN3 |
| rs11228240 | -0.04 | 8.00×10-77 | 4.30×10-152 | GAL, LRP5, PPP6R3 |
| rs11169162 | 0.01 | 2.80×10-10 | 2.47×10-20 | BCDIN3D, BCDIN3D-AS1, FAIM2, NCKAP5L |
| rs28929474 | -0.03 | 2.60×10-07 | 5.11×10-25 | PPP4R4, SERPINA1, SERPINA2, SERPINA6, SERPINA10 |
| rs78733883 | 0.03 | 8.10×10-10 | 6.96×10-21 | CHTF8, CIRH1A, COG8, CYB5B, HAS3, MIR1538, NFAT5, NIP7, NOB1, NQO1, PDF, SNTB2, TANGO6, TERF2, TMED6, VPS4A, WWP2 |
| rs9788803 | -0.02 | 6.40×10-12 | 3.40×10-22 | MIR1538, NFAT5, NOB1, NQO1, WWP2 |
| rs112111542 | 0.02 | 5.60×10-10 | 2.70×10-16 | DPH1, HIC1, LOC101927839, MIR132, MIR212, OVCA2, SMG6, SRR |
| 连锁不平衡的共享SNPs(单一性状GWAS未达到全基因组显著性水平但Psingle-trait<1.0×10-5,PPLEIO<5×10-8,且与已知SNPs连锁不平衡) |
| rs2300669 | -0.01 | 5.20×10-06 | 9.25×10-12 | ACVR2B, ACVR2B-AS1, EXOG, XYLB |
| rs2880663 | 0.01 | 3.70×10-07 | 4.10×10-13 | SLC5A11, TNRC6A |
| rs72902690 | 0.01 | 2.20×10-06 | 1.23×10-16 | SETBP1, SLC14A2 |
), ArticleFig(id=1311350177219314575, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=EN, label=Table 3, caption=
Novel Significant Pleiotropic loci between DrnkWk and eBMD
, figureFileSmall=null, figureFileBig=null, tableContent=
| SNP | 染色体 | 碱基位置 | 效应/非效应等位基因 | DrnkWk |
|---|
| β | P值 |
|---|
| 新发现的共享SNPs(两个性状均未达到全基因组显著性水平但Psingle-trait<1.0×10-5,PPLEIO<5×10-8,且不与已知SNPs连锁不平衡) |
| rs74054769 | 1 | 15533652 | C/A | -0.01 | 6.32×10-06 |
| rs146016966 | 1 | 15789386 | T/C | -0.02 | 6.24×10-06 |
| rs11587434 | 1 | 72149435 | A/G | -0.01 | 1.10×10-06 |
| rs60762909 | 2 | 73646375 | T/C | 0.01 | 3.20×10-06 |
| rs11885942 | 2 | 99387702 | G/A | -0.01 | 5.27×10-06 |
| rs59243338 | 2 | 143527665 | C/T | -0.01 | 3.04×10-06 |
| rs843461 | 2 | 239397395 | T/C | 0.01 | 1.69×10-06 |
| rs75494138 | 11 | 46443811 | T/C | 0.02 | 1.71×10-06 |
| rs74798865 | 14 | 103921780 | T/A | -0.01 | 4.41×10-06 |
| SNP | eBMD | PPLEIO | 聚类范围内的基因 |
|---|
| β | P值 |
|---|
| 新发现的共享SNPs(两个性状均未达到全基因组显著性水平但Psingle-trait<1.0×10-5,PPLEIO<5×10-8,且不与已知SNPs连锁不平衡) |
| rs74054769 | 0.01 | 7.50×10-06 | 2.57×10-10 | AGMAT, CASP9, CELA2A, CELA2B, DDI2, DNAJC16, PLEKHM2, RSC1A1 |
| rs146016966 | 0.03 | 2.00×10-08 | 5.62×10-15 | AGMAT, C1orf64, CLCNKA, CLCNKB, DDI2, DNAJC16, FAM131C, FBLIM1, FLJ37453, HSPB7, PLEKHM2, RSC1A1, SLC25A34, SPEN, TMEM82, UQCRHL, ZBTB17 |
| rs11587434 | 0.01 | 1.00×10-06 | 1.28×10-14 | NEGR1 |
| rs60762909 | 0.01 | 3.30×10-06 | 1.26×10-12 | ALMS1, ALMS1-IT1, ALMS1P, NAT8, NAT8B |
| rs11885942 | 0.01 | 9.30×10-08 | 2.71×10-15 | AFF3, C2orf15, EIF5B, LIPT1, LYG1, LYG2, MITD1, MRPL30, REV1, TSGA10, TXNDC9 |
| rs59243338 | -0.01 | 4.30×10-08 | 1.39×10-18 | ARHGAP15 |
| rs843461 | -0.01 | 4.40×10-08 | 2.79×10-13 | HDAC4 |
| rs75494138 | 0.02 | 3.90×10-06 | 7.04×10-15 | AMBRA1, CHRM4, CREB3L1, DGKZ, MDK, MIR3160-1, MIR3160-2, MIR4688 |
| rs74798865 | -0.02 | 1.30×10-06 | 7.56×10-14 | C14orf2, RD3L, TDRD9 |
), ArticleFig(id=1311350177370309520, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=CN, label=表3, caption=
新发现的每周饮酒量与估算骨密度间显著的多效性位点
, figureFileSmall=null, figureFileBig=null, tableContent=
| SNP | 染色体 | 碱基位置 | 效应/非效应等位基因 | DrnkWk |
|---|
| β | P值 |
|---|
| 新发现的共享SNPs(两个性状均未达到全基因组显著性水平但Psingle-trait<1.0×10-5,PPLEIO<5×10-8,且不与已知SNPs连锁不平衡) |
| rs74054769 | 1 | 15533652 | C/A | -0.01 | 6.32×10-06 |
| rs146016966 | 1 | 15789386 | T/C | -0.02 | 6.24×10-06 |
| rs11587434 | 1 | 72149435 | A/G | -0.01 | 1.10×10-06 |
| rs60762909 | 2 | 73646375 | T/C | 0.01 | 3.20×10-06 |
| rs11885942 | 2 | 99387702 | G/A | -0.01 | 5.27×10-06 |
| rs59243338 | 2 | 143527665 | C/T | -0.01 | 3.04×10-06 |
| rs843461 | 2 | 239397395 | T/C | 0.01 | 1.69×10-06 |
| rs75494138 | 11 | 46443811 | T/C | 0.02 | 1.71×10-06 |
| rs74798865 | 14 | 103921780 | T/A | -0.01 | 4.41×10-06 |
| SNP | eBMD | PPLEIO | 聚类范围内的基因 |
|---|
| β | P值 |
|---|
| 新发现的共享SNPs(两个性状均未达到全基因组显著性水平但Psingle-trait<1.0×10-5,PPLEIO<5×10-8,且不与已知SNPs连锁不平衡) |
| rs74054769 | 0.01 | 7.50×10-06 | 2.57×10-10 | AGMAT, CASP9, CELA2A, CELA2B, DDI2, DNAJC16, PLEKHM2, RSC1A1 |
| rs146016966 | 0.03 | 2.00×10-08 | 5.62×10-15 | AGMAT, C1orf64, CLCNKA, CLCNKB, DDI2, DNAJC16, FAM131C, FBLIM1, FLJ37453, HSPB7, PLEKHM2, RSC1A1, SLC25A34, SPEN, TMEM82, UQCRHL, ZBTB17 |
| rs11587434 | 0.01 | 1.00×10-06 | 1.28×10-14 | NEGR1 |
| rs60762909 | 0.01 | 3.30×10-06 | 1.26×10-12 | ALMS1, ALMS1-IT1, ALMS1P, NAT8, NAT8B |
| rs11885942 | 0.01 | 9.30×10-08 | 2.71×10-15 | AFF3, C2orf15, EIF5B, LIPT1, LYG1, LYG2, MITD1, MRPL30, REV1, TSGA10, TXNDC9 |
| rs59243338 | -0.01 | 4.30×10-08 | 1.39×10-18 | ARHGAP15 |
| rs843461 | -0.01 | 4.40×10-08 | 2.79×10-13 | HDAC4 |
| rs75494138 | 0.02 | 3.90×10-06 | 7.04×10-15 | AMBRA1, CHRM4, CREB3L1, DGKZ, MDK, MIR3160-1, MIR3160-2, MIR4688 |
| rs74798865 | -0.02 | 1.30×10-06 | 7.56×10-14 | C14orf2, RD3L, TDRD9 |
), ArticleFig(id=1311350177470972817, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=EN, label=Table 4, caption=
Significant Pleiotropic genes between DrnkWk and eBMD
, figureFileSmall=null, figureFileBig=null, tableContent=
| 基因名 | 染色体 | 起始碱基位置 | 终止碱基位置 | DrnkWk | eBMD |
|---|
| NSNPs | Z值 | P值 | NSNPs | Z值 | P值 |
|---|
| 已知的共享基因 | | | | | | | | | |
| AUTS2 | 7 | 69 063 905 | 70 257 885 | 4 138 | 7.477 | 3.82×10-14 | 4 134 | 4.771 | 9.16×10-07 |
| BDNF | 11 | 27 676 440 | 27 743 605 | 169 | 5.482 | 2.11×10-08 | 200 | 6.109 | 5.00×10-10 |
| CREB3L1 | 11 | 46 299 189 | 46 342 972 | 148 | 4.868 | 5.63×10-07 | 142 | 7.773 | 3.83×10-15 |
| AGBL2 | 11 | 47 681 143 | 47 736 928 | 184 | 7.866 | 1.83×10-15 | 199 | 4.708 | 1.25×10-06 |
| FTO | 16 | 53 737 875 | 54 148 379 | 1 892 | 5.411 | 3.13×10-08 | 1 858 | 9.222 | 1.46×10-20 |
| SLC14A2 | 18 | 42 792 947 | 43 263 072 | 1 989 | 5.296 | 5.91×10-08 | 2 306 | 4.823 | 7.07×10-07 |
| 单性状驱动的共享基因 | | | | | | | | | |
| BMPR1B | 4 | 95 679 128 | 96 079 601 | 2 174 | 5.714 | 5.50×10-09 | 1 859 | 5.649 | 8.07×10-09 |
| CYP3A4 | 7 | 99 354 583 | 99 381 811 | 93 | 5.260 | 7.19×10-08 | 66 | 4.578 | 2.35×10-06 |
| DGKZ | 11 | 46 354 455 | 46 402 104 | 117 | 5.998 | 1.00×10-09 | 126 | 6.644 | 1.53×10-11 |
| AMBRA1 | 11 | 46 417 962 | 46 615 619 | 414 | 6.344 | 1.12×10-10 | 449 | 6.109 | 5.00×10-10 |
| HARBI1 | 11 | 46 624 856 | 46 638 933 | 27 | 5.927 | 1.54×10-09 | 31 | 7.283 | 1.64×10-13 |
| ATG13 | 11 | 46 638 826 | 46 697 569 | 142 | 6.109 | 5.00×10-10 | 141 | 6.803 | 5.11×10-12 |
| ARHGAP1 | 11 | 46 698 625 | 46 722 215 | 66 | 6.037 | 7.86×10-10 | 70 | 6.109 | 5.00×10-10 |
| F2 | 11 | 46 740 743 | 46 761 056 | 45 | 5.523 | 1.67×10-08 | 85 | 6.109 | 5.00×10-10 |
| LRP4 | 11 | 46 878 268 | 46 940 173 | 173 | 4.852 | 6.12×10-07 | 179 | 6.109 | 5.00×10-10 |
| DDB2 | 11 | 47 236 493 | 47 260 769 | 102 | 4.670 | 1.50×10-06 | 81 | 6.109 | 5.00×10-10 |
| MYBPC3 | 11 | 47 352 957 | 47 374 253 | 106 | 7.245 | 2.17×10-13 | 72 | 7.659 | 9.38×10-15 |
| CPT1A | 11 | 68 522 088 | 68 611 878 | 267 | 4.621 | 1.91×10-06 | 291 | 9.096 | 4.71×10-20 |
| DNAH2 | 17 | 7 620 631 | 7 737 058 | 527 | 6.247 | 2.09×10-10 | 496 | 5.049 | 2.23×10-07 |
| COPZ2 | 17 | 46 103 533 | 46 120 908 | 119 | 6.109 | 5.00×10-10 | 63 | 6.818 | 4.62×10-12 |
| NFE2L1 | 17 | 46 125 686 | 46 138 907 | 91 | 7.474 | 3.89×10-14 | 43 | 6.564 | 2.61×10-11 |
| CBX1 | 17 | 46 147 414 | 46 178 883 | 220 | 7.068 | 7.88×10-13 | 121 | 5.958 | 1.28×10-09 |
| SNX11 | 17 | 46 184 911 | 46 200 109 | 101 | 6.109 | 5.00×10-10 | 63 | 5.537 | 1.54×10-08 |
| 全新的共享基因 | | | | | | | | | |
| NR1H3 | 11 | 47 269 851 | 47 290 584 | 68 | 5.598 | 1.08×10-08 | 71 | 7.488 | 3.50×10-14 |
| MADD | 11 | 47 290 927 | 47 351 582 | 196 | 4.960 | 3.52×10-07 | 220 | 6.109 | 5.00×10-10 |
| MTL5 | 11 | 68 474 908 | 68 518 988 | 152 | 4.546 | 2.73×10-06 | 133 | 7.054 | 8.67×10-13 |
| SLC11A2 | 12 | 51 373 566 | 51 422 118 | 177 | 5.881 | 2.04×10-09 | 168 | 6.077 | 6.11×10-10 |
| CSRNP2 | 12 | 51 454 988 | 51 477 454 | 55 | 5.792 | 3.48×10-09 | 83 | 5.142 | 1.36×10-07 |
| TFCP2 | 12 | 51 487 539 | 51 566 926 | 244 | 6.109 | 5.00×10-10 | 316 | 6.000 | 9.90×10-10 |
| PNPO | 17 | 46 018 889 | 46 026 674 | 37 | 7.672 | 8.55×10-15 | 26 | 5.783 | 3.68×10-09 |
), ArticleFig(id=1311350177563247506, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1311350168713266000, language=CN, label=表4, caption=
每周饮酒量与估算骨密度间显著的基因
, figureFileSmall=null, figureFileBig=null, tableContent=
| 基因名 | 染色体 | 起始碱基位置 | 终止碱基位置 | DrnkWk | eBMD |
|---|
| NSNPs | Z值 | P值 | NSNPs | Z值 | P值 |
|---|
| 已知的共享基因 | | | | | | | | | |
| AUTS2 | 7 | 69 063 905 | 70 257 885 | 4 138 | 7.477 | 3.82×10-14 | 4 134 | 4.771 | 9.16×10-07 |
| BDNF | 11 | 27 676 440 | 27 743 605 | 169 | 5.482 | 2.11×10-08 | 200 | 6.109 | 5.00×10-10 |
| CREB3L1 | 11 | 46 299 189 | 46 342 972 | 148 | 4.868 | 5.63×10-07 | 142 | 7.773 | 3.83×10-15 |
| AGBL2 | 11 | 47 681 143 | 47 736 928 | 184 | 7.866 | 1.83×10-15 | 199 | 4.708 | 1.25×10-06 |
| FTO | 16 | 53 737 875 | 54 148 379 | 1 892 | 5.411 | 3.13×10-08 | 1 858 | 9.222 | 1.46×10-20 |
| SLC14A2 | 18 | 42 792 947 | 43 263 072 | 1 989 | 5.296 | 5.91×10-08 | 2 306 | 4.823 | 7.07×10-07 |
| 单性状驱动的共享基因 | | | | | | | | | |
| BMPR1B | 4 | 95 679 128 | 96 079 601 | 2 174 | 5.714 | 5.50×10-09 | 1 859 | 5.649 | 8.07×10-09 |
| CYP3A4 | 7 | 99 354 583 | 99 381 811 | 93 | 5.260 | 7.19×10-08 | 66 | 4.578 | 2.35×10-06 |
| DGKZ | 11 | 46 354 455 | 46 402 104 | 117 | 5.998 | 1.00×10-09 | 126 | 6.644 | 1.53×10-11 |
| AMBRA1 | 11 | 46 417 962 | 46 615 619 | 414 | 6.344 | 1.12×10-10 | 449 | 6.109 | 5.00×10-10 |
| HARBI1 | 11 | 46 624 856 | 46 638 933 | 27 | 5.927 | 1.54×10-09 | 31 | 7.283 | 1.64×10-13 |
| ATG13 | 11 | 46 638 826 | 46 697 569 | 142 | 6.109 | 5.00×10-10 | 141 | 6.803 | 5.11×10-12 |
| ARHGAP1 | 11 | 46 698 625 | 46 722 215 | 66 | 6.037 | 7.86×10-10 | 70 | 6.109 | 5.00×10-10 |
| F2 | 11 | 46 740 743 | 46 761 056 | 45 | 5.523 | 1.67×10-08 | 85 | 6.109 | 5.00×10-10 |
| LRP4 | 11 | 46 878 268 | 46 940 173 | 173 | 4.852 | 6.12×10-07 | 179 | 6.109 | 5.00×10-10 |
| DDB2 | 11 | 47 236 493 | 47 260 769 | 102 | 4.670 | 1.50×10-06 | 81 | 6.109 | 5.00×10-10 |
| MYBPC3 | 11 | 47 352 957 | 47 374 253 | 106 | 7.245 | 2.17×10-13 | 72 | 7.659 | 9.38×10-15 |
| CPT1A | 11 | 68 522 088 | 68 611 878 | 267 | 4.621 | 1.91×10-06 | 291 | 9.096 | 4.71×10-20 |
| DNAH2 | 17 | 7 620 631 | 7 737 058 | 527 | 6.247 | 2.09×10-10 | 496 | 5.049 | 2.23×10-07 |
| COPZ2 | 17 | 46 103 533 | 46 120 908 | 119 | 6.109 | 5.00×10-10 | 63 | 6.818 | 4.62×10-12 |
| NFE2L1 | 17 | 46 125 686 | 46 138 907 | 91 | 7.474 | 3.89×10-14 | 43 | 6.564 | 2.61×10-11 |
| CBX1 | 17 | 46 147 414 | 46 178 883 | 220 | 7.068 | 7.88×10-13 | 121 | 5.958 | 1.28×10-09 |
| SNX11 | 17 | 46 184 911 | 46 200 109 | 101 | 6.109 | 5.00×10-10 | 63 | 5.537 | 1.54×10-08 |
| 全新的共享基因 | | | | | | | | | |
| NR1H3 | 11 | 47 269 851 | 47 290 584 | 68 | 5.598 | 1.08×10-08 | 71 | 7.488 | 3.50×10-14 |
| MADD | 11 | 47 290 927 | 47 351 582 | 196 | 4.960 | 3.52×10-07 | 220 | 6.109 | 5.00×10-10 |
| MTL5 | 11 | 68 474 908 | 68 518 988 | 152 | 4.546 | 2.73×10-06 | 133 | 7.054 | 8.67×10-13 |
| SLC11A2 | 12 | 51 373 566 | 51 422 118 | 177 | 5.881 | 2.04×10-09 | 168 | 6.077 | 6.11×10-10 |
| CSRNP2 | 12 | 51 454 988 | 51 477 454 | 55 | 5.792 | 3.48×10-09 | 83 | 5.142 | 1.36×10-07 |
| TFCP2 | 12 | 51 487 539 | 51 566 926 | 244 | 6.109 | 5.00×10-10 | 316 | 6.000 | 9.90×10-10 |
| PNPO | 17 | 46 018 889 | 46 026 674 | 37 | 7.672 | 8.55×10-15 | 26 | 5.783 | 3.68×10-09 |
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