Department of Genetics Publications for March 2026

Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research. 

Cromer SJ, Cobran EK, Iyer HS, Hysong MR, Vargas LB, Smith JL, Konigsberg IR, Bogumil D, Glover L, King G; Polygenic Risk Methods Development (PRIMED) Consortium SDoH Working Group; Lange LA, Patel A, Wojcik G, Raffield L, Conti DV.

Am J Hum Genet. 2026 Mar 4:S0002-9297(26)00071-6. doi: 10.1016/j.ajhg.2026.02.007. Online ahead of print.

PMID: 41785862      Review.

Higher eQTL power reveals signals that boost GWAS colocalization. 

Rosen JD, Broadaway KA, Brotman SM, Mohlke KL, Love MI.

Am J Hum Genet. 2026 Mar 4:S0002-9297(26)00073-X. doi: 10.1016/j.ajhg.2026.02.009. Online ahead of print.

PMID: 41785861

Nucleotide-resolution mapping of regulatory elements via allelic readout of tiled base editing. 

Becerra B, Wittibschlager S, Patel ZM, Kutschat AP, Delano J, Che E, Tauber A, Wu T, Starrs M, Horstmann CS, Müller S, Whittaker MN, Sylvander E, Lehner M, Love MI, Kleinstiver BP, Jankowiak M, Bauer DE, Seruggia D, Pinello L.

Nat Commun. 2026 Mar 3. doi: 10.1038/s41467-026-69918-8. Online ahead of print.

PMID: 41771871

Computation and resource efficient genome-wide association analysis for large-scale imaging studies. 

Jiang Z, Stein J, Li T, Fang E, Li Y, Sullivan P, Zhu H.

Nat Commun. 2026 Feb 28. doi: 10.1038/s41467-026-69816-z. Online ahead of print.

PMID: 41764180

Computational pathology in bladder cancer: A scoping review. 

Superdock M, Wobker SE, Carmicheal I, Kim WY.

Bladder Cancer. 2026 Feb 26;12(1):23523735251413333. doi: 10.1177/23523735251413333. eCollection 2026 Jan-Mar.

PMID: 41768416      Free PMC article. Review.

Genomic landscape, immune microenvironment and survival in male versus female breast cancer. 

Trapani D, Deshmukh SK, Samec T, Wu S, Xiu J, Walker P, Abravanel DL, Advani P, Spanheimer PM, Lin NU, Curigliano G, Graff SL, Lustberg M, Sledge GW, Tolaney SM, Leone JP.

ESMO Open. 2026 Mar 4;11(3):106059. doi: 10.1016/j.esmoop.2026.106059. Online ahead of print.

PMID: 41785670

 

Governing real-world health data as a public utility. 

Haendel MA, Ahern R, Bailey KB, Bakas S, Barth-Jones DC, Bohl A, Bian J, Bourne PE, Boyles RR, Chute CG, Cimino JJ, Grannis S, Hartman TS, Holko M, Hotaling NA, Housman DJ, Hunter LE, Hurwitz E, Phua J, Kahn MG, Kuzmanovic D, Lemieux J, Loomba J, Madlock-Brown CR, Mandl KD, Mazumder R, McMurry JA, McMurry AJ, Modi ZJ, Moffitt RA, Mosa ASM, Messina N, O’Neil ST, Peterson JF, Pfaff ER, Phuong J, Presskreischer R, Sanders L, Sarker A, Thomson A, Unertl KM, Walden A, Weinstein J.

Science. 2026 Mar 5;391(6789):993-996. doi: 10.1126/science.aeb1178. Epub 2026 Mar 5.

PMID: 41785358

An RNAi-based platform for spatiotemporal control of histone gene expression during animal development. 

Arroyo OM, Leatham-Jensen MP, McKay DJ.

Epigenetics Chromatin. 2026 Mar 2;19(1):12. doi: 10.1186/s13072-025-00657-8.

PMID: 41772691      Free PMC article.

Merritt-Putnam Symposium | Tumor-Associated Epilepsy and Epilepsy-Associated Tumors: Exploring the Bidirectional Crosstalk Between Tumors and Seizures. 

Bedrosian TA, Wong M, Heinzen EL, Deneen B, Christian-Hinman CA.

Epilepsy Curr. 2026 Feb 26:15357597261418332. doi: 10.1177/15357597261418332. Online ahead of print.

PMID: 41768595      Free PMC article.

 

Soft selective sweeps predominate in the yellow fever mosquito Aedes aegypti. 

Ketchum RN, Matute DR, Schrider DR.

Mol Biol Evol. 2026 Mar 12:msag068. doi: 10.1093/molbev/msag068. Online ahead of print.

PMID: 41818228

RAS signaling in lung adenocarcinoma is defined by lineage context and DUSP4 loss. 

Kim M, Lamlertthon W, Jo H, Cui Y, Yeon M, Choi HY, Hoadley KA, Smeltzer MP, Hayward MC, Wilkerson MD, Makowski L, Hayes DN.

JCI Insight. 2026 Mar 12:e200912. doi: 10.1172/jci.insight.200912. Online ahead of print.

PMID: 41817586

Wavelet-Based Pattern ERG Biomarkers Outperform Temporal Amplitude Measures for Functional Stratification in Optic Nerve Disease. 

Shwetar YJ, Jeffrey BG, Haendel MA.

Transl Vis Sci Technol. 2026 Mar 2;15(3):13. doi: 10.1167/tvst.15.3.13.

PMID: 41810885

Dietary folate supplementation modifies effects of arsenic exposure on DNA methylation profiles in sperm of mice expressing the human AS3MT. 

Shang B, Douillet C, Hartwell H, Miller M, Cable P, Shi Q, Zou F, Krupenko SA, Ideraabdullah FY, de Villena FP, Fry RC, Stýblo M.

Arch Toxicol. 2026 Mar 10. doi: 10.1007/s00204-026-04322-1. Online ahead of print.

PMID: 41807790

Sex differences in familial risk and genetic components of suicide attempts: a register-based cohort study in Sweden. 

Nguyen TD, Gong T, Hu K, Kuja-Halkola R, Borges K, Butwicka A, Brikell I, Crowley JJ, Chang Z, D’Onofrio BM, Larsson H, Lichtenstein P, Rück C, Bulik C, Fang F, Sullivan P, Lu Y.

BMJ Ment Health. 2026 Mar 10;29(1):e302082. doi: 10.1136/bmjment-2025-302082.

PMID: 41806974      Free PMC article.

Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum. 

Snouwaert JN, Nguyen M, Gabel CA, Aksentijevich I, Ting JP, Koller BH.

JCI Insight. 2026 Mar 9;11(5):e194677. doi: 10.1172/jci.insight.194677. eCollection 2026 Mar 9.

PMID: 41797712

Genome-Wide Association Study of Symptom Change Following Cognitive Behavioral Therapy for Common Mental Disorders. 

Bäckman J, Kravchenko O, Halvorsen M, de Schipper E, Ivanova E, Kaldo V, Isacsson NH, Eide TO, Höffler KD, Mattheisen M, Hansen B, Kvale G, Hagen K, Haavik J, Mataix-Cols D, Crowley JJ, Wallert J, Rück C; Nordic OCD and Related Disorders Consortium (NORDiC).

Am J Med Genet B Neuropsychiatr Genet. 2026 Mar 9. doi: 10.1002/ajmg.b.70015. Online ahead of print.

PMID: 41804033

A dual-reporter mouse for therapeutic discovery in Angelman syndrome. 

Vihma H, James LM, Nourie HC, Smith AL, Liang S, Friar CA, Vulli T, Xing L, Cowley DO, Burette AC, Philpot BD.

JCI Insight. 2026 Feb 3;11(5):e197028. doi: 10.1172/jci.insight.197028. eCollection 2026 Mar 9.

PMID: 41632831

APOE and plasma AD biomarkers: The role of genetic ancestry in Hispanics/Latinos. 

Cheung C, Anita NZ, Filigrana P, Fornage M, Gonzalez KA, Gallo LC, Isasi CR, Kaplan RC, Li X, Márquez F, Parada H Jr, Perreira KM, Ramos AR, Rundek T, Tarraf W, Testai FD, DeCarli C, González HM, Sofer T.

Alzheimers Dement. 2026 Mar;22(3):e71213. doi: 10.1002/alz.71213.

PMID: 41816965

Epigenetic aging mediates the association between life course socioeconomic status and decrements in kidney function across a decade. 

Surachman A, Harhay MN, DiMaria-Ghalili RA, Zannas AS, Almeida DM, Coe CL.

Geroscience. 2026 Feb;48(1):1241-1257. doi: 10.1007/s11357-025-01728-0. Epub 2025 Jun 12.

PMID: 40500519      Free PMC article.

Proteomic pathways mediating low socioeconomic status and cardiovascular events in older adults in CHS and ARIC. 

Odden MC, Liu X, Shah AM, Yang Y, Lamberson V, Brody JA, Sitlani CM, Huber M, Kalani R, Shojaie A, Raffield LM, Glover L, Palta P, Kucharska-Newton AM, Psaty BM, Floyd JS.

Atherosclerosis. 2026 Mar 13;415:120705. doi: 10.1016/j.atherosclerosis.2026.120705. Online ahead of print.

PMID: 41861669

Global analyses of genomic and epigenomic influences on gene expression reveal Serpina3n as a major regulator of cardiac gene expression in response to catecholamine challenge during heart failure. 

Lahue C, Ravindran S, Dalal A, Avetisyan R, Rau CD.

Epigenetics. 2026 Dec 31;21(1):2643094. doi: 10.1080/15592294.2026.2643094. Epub 2026 Mar 19.

PMID: 41855523

A small molecule PTER-selective inhibitor reduces food intake and body weight. 

Fu S, Wang L, Li VL, Lyu X, Wei W, Shi X, Deng S, Barber JL, Tahir UA, Adams C, Carson A, Hidalgo B, Raffield LM, Wilson JG, Razumkov H, Xiao S, Spaas J, Fernandez D, Zhang T, Gerszten RE, Benson MD, Gray NS, Hinshaw SM, Long JZ.

Cell Chem Biol. 2026 Mar 19;33(3):353-363.e7. doi: 10.1016/j.chembiol.2026.02.005. Epub 2026 Mar 9.

PMID: 41806828

A population-based family clustering study of body dysmorphic disorder. 

Pol-Fuster J, Fernández de la Cruz L, Rautio D, Crowley JJ, Halvorsen M, Du Rietz E, Chang Z, Larsson H, Phillips KA, Rück C, Lichtenstein P, Kuja-Halkola R, Mataix-Cols D.

Biol Psychiatry. 2026 Mar 16:S0006-3223(26)01102-9. doi: 10.1016/j.biopsych.2026.03.987. Online ahead of print.

PMID: 41850604

Impact of Age on Use of Neoadjuvant Chemoimmunotherapy and Outcomes for Patients with Triple-Negative Breast Cancer. 

Schrank Z, Landrum K, Agala CB, Gallagher KK, Ollila DW, Spanheimer PM, Selfridge JM.

Ann Surg Oncol. 2026 Mar 14. doi: 10.1245/s10434-026-19198-9. Online ahead of print.

PMID: 41832363

Estimating population structure using epigenome-wide methylation data. 

Wang Z, Taylor KD, Rotter JI, Rich SS, Zheng Y, Hou L, Guo X, Bressler J, Raffield LM, Liu Y, Kaplan R, Lloyd-Jones DM, Morrison AC, Fornage M, Psaty BM, Brody JA, Sofer T; TOPMed Epigenetics working group.

Brief Bioinform. 2026 Mar 1;27(2):bbag142. doi: 10.1093/bib/bbag142.

PMID: 41902502

Divergent Evolution of Tuberculosis Lesions During Treatment: A Longitudinal CT-Based Analysis of Progression and Regression Patterns. 

Qin L, Jiang J, Ma S, Liu X, Lv P, Wang W, Takiff HE, Xie YL, Liu Q, Li W.

Diagnostics (Basel). 2026 Mar 18;16(6):892. doi: 10.3390/diagnostics16060892.

PMID: 41897625

Lp(a) Has Specific Effects on Coronary Artery Disease Independent of LDL-C: A Mendelian Randomization Study. 

Lee MP, Koenigsberg SH, Anwar MY, Raffield LM, Lin Z, Ballou AF, Booth JN 3rd, Davy-Mendez T, Kassahun H, Kent ST, López JAG, Monda KL, North KE, Yarosh R, Ballantyne CM, Graff M, Avery CL.

JACC Adv. 2026 Mar 25;5(5):102697. doi: 10.1016/j.jacadv.2026.102697. Online ahead of print.

PMID: 41889052

An integrated germline and somatic genomic model for coronary artery disease. 

Yang X, Kim MS, Zhu X, Uddin MM, Nakao T, Cho SMJ, Koyama S, Xu T, Reeskamp LF, Zhang R, Liu Z, A Y, de Vries PS, Vasan RS, Boerwinkle E, Morrison AC, Psaty BM, Tracy RP, Heckbert SR, Cho MH, Yun JH, Palmer ND, Bowden DW, Murabito JM, Levy D, Heard-Costa NL, O’Connor GT, Becker LC, Kral BG, Yanek LR, Raffield LM, Hidalgo B, Rotter JI, Rich SS, Taylor KD, Post WS, Kooperberg C, Reiner AP, Mitchell BD, Kardia SLR, Smith JA, Peyser PA, Bielak LF, Yon DK, Won HH, Arnett DK, Smith AV, Gabriel SB, Ellinor PT; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Natarajan P, Wang M, Fahed AC.

Nat Commun. 2026 Mar 26. doi: 10.1038/s41467-026-70379-2. Online ahead of print.

PMID: 41888514

Plasma Proteins Associated With Psychosocial Factors and Heart Disease: The Jackson Heart Study. 

O’Brien SN, Gillman MG, Green MD, Cruz DE, Floyd JS, Hankinson S, Katz DH, Liu X, Odden MC, Psaty BM, Reiner AP, Rotter JII, Rich SSS, Gerszten RE, Shah A, Sims M, Tahir UA, Tinker LF, Wood AC, Yu B, Zannas AS, Raffield L, Glover L.

Arterioscler Thromb Vasc Biol. 2026 Mar 26. doi: 10.1161/ATVBAHA.125.324125. Online ahead of print.

PMID: 41884897

A submission checklist to improve transparency and replicability of functional genomics data analyses. 

Hepperla AJ, Hardison RC, Colbran RJ, Strahl BD, Simon JM.

J Biol Chem. 2026 Mar;302(3):111285. doi: 10.1016/j.jbc.2026.111285.

PMID: 41897023

Comparison of variant callers using 60 532 multi-ancestry whole genome sequences. 

Zhou H, Li Z, Shyr D, Li X, Yang H, Dey R, Tang Y, Maier R, Boerwinkle E, Buyske S, Daly M, Felsenfeld A, Gibbs RA, Gupta N, Hall IM, Matise T, Metcalf GA, Smith A, Reeves C, Sofia HJ, Stitziel NO, Zody MC; NHGRI Genome Sequencing Program (GSP) Consortium; Neale B, Lin X.

Brief Bioinform. 2026 Mar 1;27(2):bbag130. doi: 10.1093/bib/bbag130.

PMID: 41894165

Disparities in Genetic Testing: Evaluation of Reproductive Carrier Screening in the United States. 

Parmar S, Saben JL, Armer-Cabral M, Morton E, Talati AN, Prigmore B, Wang Y, Souter V, Neal-Perry G.

Genet Med. 2026 Mar 23:102559. doi: 10.1016/j.gim.2026.102559. Online ahead of print.

PMID: 41891361

Beta-arrestin 1/2 are essential for embryonic lymphatic vessel development. 

Tian Y, Serafin DS, Avila-Zozaya M, Tauro AM, Torres-Valle NM, Kistner BM, Dy DM, Douglas ES, Caron KM.

JCI Insight. 2026 Mar 26:e198032. doi: 10.1172/jci.insight.198032. Online ahead of print.

PMID: 41885968

Chromosome-specific differences in the recombination landscape of spontaneous meiotic nondisjunction. 

Turcotte CA, Sekelsky J.

Genetics. 2026 Mar 24:iyag076. doi: 10.1093/genetics/iyag076. Online ahead of print.

PMID: 41875372

Large Impact of Genetic Data Processing Steps on Stability and Reproducibility of Set-Based Analyses in Genome-Wide Association Studies. 

Kui N, Yu Y, Choi J, McCaw ZR, Li X, Huff C, Sun R.

Genetics. 2026 Mar 23:iyag079. doi: 10.1093/genetics/iyag079. Online ahead of print.

PMID: 41870342