Department of Genetics Publications for January 2026

Genome-wide gene-sleep interaction study identifies novel lipid loci in 732,564 participants. 

Noordam R, Wang W, Nagarajan P, Wang H, Brown MR, Bentley AR, Hui Q, Kraja AT, Morrison JL, O’Connel JR, Lee S, Schwander K, Bartz TM, de Las Fuentes L, Feitosa MF, Guo X, Hanfei X, Harris SE, Huang Z, Kals M, Lefevre C, Mangino M, Milaneschi Y, van der Most PJ, Pacheco NL, Palmer ND, Rao V, Rauramaa R, Sun Q, Tabara Y, Vojinovic D, Wang Y, Weiss S, Yang Q, Zhao W, Zhu W, Ansari MAY, Aschard H, Anugu P, Assimes TL, Attia J, Baker LD, Ballantyne C, Bazzano L, Boerwinkle E, Cade B, Chen HH, Chen W, Ida Chen YD, Chen Z, Cho K, De Anda-Duran I, Dimitrov L, Do A, Edwards T, Faquih T, Hingorani A, Fisher-Hoch SP, Gaziano JM, Gharib SA, Giri A, Ghanbari M, Grabe HJ, Graff M, Charles Gu C, He J, Heikkinen S, Hixson J, Ho YL, Hood MM, Houghton SC, Karvonen-Gutierrez CA, Kawaguchi T, Kilpeläinen TO, Komulainen P, Lin HJ, Linchangco GV Jr, Luik AI, Ma J, Meigs JB, McCormick JB, Menni C, Nolte IM, Norris JM, Petty LE, Polikowsky HG, Raffield LM, Rich SS, Riha RL, Russ TC, Ruiz-Narvaez EA, Sitlani CM, Smith JA, Snieder H, Sofer T, Shen B, Tang J, Taylor KD, Teder-Laving M, Triatin R, Tsai MY, Völzke H, Westerman KE, Xia R, Yao J, Young KL, Zhang R, Zonderman AB, Zhu X, Below JE, Cox SR, Evans M, Fornage M, Fox ER, Franceschini N, Harlow SD, Holliday E, Ikram MA, Kelly T, Lakka TA, Lawlor DA, Li C, Liu CT, Mägi R, Manning AK, Matsuda F, Morrison AC, Nauck M, North KE, Penninx BW, Province MA, Psaty BM, Rotter JI, Spector TD, Wagenknecht LE, van Dijk KW; Lifelines Cohort Study; Million Veteran Program; Jaquish CE, Wilson PW, Peyser PA, Munroe PB, de Vries PS, Gauderman WJ, Sun YV, Chen H, Miller CL, Winkler TW, Rao DC, Redline S, van Heemst D.

Atherosclerosis. 2026 Jan;412:120603. doi: 10.1016/j.atherosclerosis.2025.120603. PMID: 41325697

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II. 

Muenzer J, Burton BK, Harmatz P, Rajan DS, Jones SA, van den Hout JMP, Mitchell JJ, Bhalla A, Engmann NJ, Zubizarreta I, Dong W, Model F, Watts RJ, Troyer MD, Chin PS, Ho C.

N Engl J Med. 2026 Jan 1;394(1):39-50. doi: 10.1056/NEJMoa2508681.

PMID: 41467650

Transcriptome-wide association study of cardiovascular outcomes in chronic kidney disease: the Chronic Renal Insufficiency Cohort. 

Lin BM, Wen J, Horimoto ARVR, Zhou L, Huang S, Dobre M, Go A, Li Y, Franceschini N; CRIC Study Investigators§.

HGG Adv. 2026 Jan 8:100562. doi: 10.1016/j.xhgg.2026.100562. Online ahead of print.

PMID: 41508609

Genetic diversity of Collaborative Cross mice implicates FFAR3 as a target for ILC2 anti-inflammatory reprogramming. 

Rusznak M, Toki S, Hao Y, Todd MJC, Malone L, Goodhead JF, DuPuy C, Zhou W, Babin D, Warren CM, Abney M, Stier MT, Thomas CM, Li J, Jacobse J, Pahnke AP, Petrovic MI, Cephus JY, Kuehnle SN, Calcutt MW, Norlander AE, Yan F, Goettel JA, Miller DR, Lynch RM, Cook DP, Newcomb DC, Zou F, Peebles RS Jr.

Nat Commun. 2026 Jan 3. doi: 10.1038/s41467-025-67813-2. Online ahead of print.

PMID: 41484153

Epigenetic Clocks: An emerging role for Biomarkers of Aging in Psychiatry. 

Navarro-Flores A, Zannas AS.

Eur Neuropsychopharmacol. 2026 Jan 7;105:112749. doi: 10.1016/j.euroneuro.2025.112749. Online ahead of print.

PMID: 41506103

A novel two-sample Mendelian randomization framework integrating common and rare variants: application to assess the effect of HDL-C on preeclampsia risk. 

Zhang Y, Li M, Haas DM, Bairey Merz CN, Workalemahu T, Ryckman K, Catov JM, Levine LD, Freedman A, Saade GR, Hu J, Zhao H, Li X, Liu N, Yan Q.

Brief Bioinform. 2026 Jan 7;27(1):bbaf649. doi: 10.1093/bib/bbaf649.

PMID: 41499219

Inhibiting macrophage-derived lactate transport restores cGAS-STING signalling and enhances antitumour immunity in glioblastoma. 

Li D, Cui G, Yang K, Lu C, Jiang Y, Zhang L, Wu Q, Dixit D, Zhu Z, Gimple RC, Gu D, Gao J, Lin Q, Yu H, Shi Z, Chen Y, Wang Q, Jin G, Lin F, Shao J, Zhou Q, Liu C, Li C, You Y, Zhang N, Zhang J, Qian X, Zhang Q, Rich JN, Wang X.

Nat Cell Biol. 2026 Jan 6. doi: 10.1038/s41556-025-01839-y. Online ahead of print.

PMID: 41495200

Towards interpretable prediction of recurrence risk in breast cancer using pathology foundation models. 

Kaczmarzyk JR, Van Alsten SC, Cozzo AJ, Gupta R, Koo PK, Troester MA, Hoadley KA, Saltz JH.

NPJ Digit Med. 2026 Jan 16. doi: 10.1038/s41746-025-02334-2. Online ahead of print.

PMID: 41545684

Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants. 

Kim W, Hu X, Kim K, Chun S, Orchard P, Qiao D, Ruczinski I, Saferali A, Aguet F, Antonacci-Fulton L, Balte PP, Bartz TM, Anamika WJ, Zhou X, Duan J, Brody JA, Cade BE, Daviglus ML, Doddapaneni H, Dugan-Perez S, Dutcher SK, Frazar CD, Gabriel SB, Gharib SA, Gupta N, Hobbs BD, Kasela S, Loehr LR, Metcalf GA, Muzny DM, Oelsner EC, Rasmussen-Torvik LJ, Sitlani CM, Smith J, Sofer T, Xu H, Yu B, Zhang D, Ziniti J, Barr RG, Carson AP, Fornage M, Hou L, Kalhan R, Kaplan R, Lappalainen T, London SJ, Morrison AC, O’Connor GT, Psaty BM, Raffield LM, Redline S, Rich SS, Rotter JI, Silverman EK, Manichaikul A, Cho MH.

Genome Biol. 2026 Jan 15. doi: 10.1186/s13059-025-03921-y. Online ahead of print.

PMID: 41535900

Whole Blood Transcriptomic Analysis of Sickle Cell Trait. 

Johnson M, Cai Y, Vasconcelos AG, Orchard P, Auer PL, Lettre G, Wen J, Franceschini N, Kooperberg C, Sun W, Hsu L, Raffield LM, Reiner AP.

Eur J Haematol. 2026 Jan 13. doi: 10.1111/ejh.70114. Online ahead of print.

PMID: 41528117

A Large-Scale Genome-wide Association Study of Blood Pressure Accounting for Gene-Depressive Symptomatology Interactions in 564,680 Individuals from Diverse Populations. 

Lee S, Miller CL, Bentley AR, Brown MR, Nagarajan P, Noordam R, Morrison J, Schwander K, Westerman K, Kho M, Kraja AT, de Vries PS, Ammous F, Aschard H, Bartz TM, Do A, Dupont CT, Feitosa MF, Gudmundsdottir V, Guo X, Harris SE, Hikino K, Huang Z, Lefevre C, Lyytikäinen LP, Milaneschi Y, Nardone GG, Santin A, Schmidt H, Shen B, Sofer T, Sun Q, Tan YA, Tang J, Thériault S, van der Most PJ, Ware EB, Weiss S, Xing WY, Yu C, Zhao W, Yusuf Ansari MA, Anugu P, Attia JR, Bazzano LA, Bis JC, Breyer M, Cade B, Chen G, Collins S, Corley J, Davies G, Dörr M, Du J, Edwards TL, Faquih T, Faul JD, Fohner AE, Fretts AM, Gangireddy S, Gepner A, Graff M, Hofer E, Homuth G, Hood MM, Jie X, Kähönen M, Kardia SLR, Karvonen-Gutierrez CA, Launer LJ, Levy D, Maheshwari M, Martin LW, Matsuda K, McNeil JJ, Nolte IM, Okochi T, Raffield LM, Raitakari OT, Risch L, Risch M, Roux AD, Ruiz-Narvaez EA, Russ TC, Saito T, Schreiner PJ, Scott RJ, Shikany J, Smith JA, Snieder H, Spedicati B, Tai ES, Taylor AM, Taylor KD, Tesolin P, van Dam RM, Wang R, Wenbin W, Xie T, Yao J, Young KL, Zhang R, Zonderman AB; Biobank Japan Project; Study LC, Concas MP, Conen D, Cox SR, Evans MK, Fox ER, Fuentes LL, Giri A, Girotto G, Grabe HJ, Gu C, Gudnason V, Harlow SD, Holliday E, Jost JB, Lacaze P, Lee S, Lehtimäki T, Li C, Liu CT, Morrison AC, North KE, Penninx BW, Peyser PA, Province MM, Psaty BM, Redline S, Rosendaal FR, Rotimi CN, Rotter JI, Schmidt R, Sim X, Terao C, Weir DR, Zhu X, Franceschini N, O’Connell JR, Jaquish CE, Wang H, Manning A, Munroe PB, Rao DC, Chen H, Gauderman WJ, Bierut L, Winkler TW, Fornage M.

HGG Adv. 2026 Jan 10:100566. doi: 10.1016/j.xhgg.2026.100566. Online ahead of print.

PMID: 41520179

Fibrinogen-Associated Plasma Metabolites and Implications for Coagulation, Inflammation, and Vascular Diseases. 

Nicholas JC, Alkis T, Bis JC, Boerwinkle E, Brody JA, Clish CB, de Vries PS, Gao Y, Gerzsten RE, Guo X, Johnson AD, Larson MG, Lemaitre RN, Psaty BM, Ramachandran V, Reiner AP, Rich SS, Rodriguez B, Rong J, Rotter JI, Simino J, Smith NL, Wilson J, Yao J, Morrison AC, Yu B, Raffield LM.

J Thromb Haemost. 2026 Jan 8:S1538-7836(26)00005-X. doi: 10.1016/j.jtha.2025.12.016. Online ahead of print.

PMID: 41519271

Are There Causal Associations Between Obsessive-Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi-Directional Mendelian Randomization Study. 

Wootton RE, Crowley JJ, Pol-Fuster J, Holmberg A, Rück C; Obsessive‐Compulsive Disorder Working Group of the Psychiatric Genomics Consortium; Mataix-Cols D, Fernández de la Cruz L.

Am J Med Genet B Neuropsychiatr Genet. 2026 Jan 13. doi: 10.1002/ajmgb.70003. Online ahead of print.

PMID: 41528053

Black EquaLity in OCD NeuroGenomics (BELONG): Study Protocol. 

Williams IJ, Marquez DY, Lopez-Lengowski KE, Bommiasamy M, Onyeka OC, Underwood SJ, Avery JE, Gluckman J, Pichardo T, Chandler R, Brown Y, Mangen K, Choplin EG; Black EquaLity in OCD NeuroGenomics (BELONG) Study Team; Richardson SC, Buxbaum JD, Storch EA, Crowley JJ, Hankerson SH, Grice DE.

Am J Med Genet B Neuropsychiatr Genet. 2026 Jan 12. doi: 10.1002/ajmgb.70002. Online ahead of print.

PMID: 41527206

CoxMDS: multiple data splitting for high-dimensional mediation analysis with survival outcomes in epigenome-wide studies. 

Yao M, Tian P, Li X, Bian S, Wang G, Gu Y, Navas-Acien A, Vardarajan BN, Belsky DW, Miller GW, Baccarelli AA, Liu Z.

Brief Bioinform. 2026 Jan 7;27(1):bbaf730. doi: 10.1093/bib/bbaf730.

PMID: 41537308

Cross-ancestry comparison of aptamer and antibody protein measures. 

Nicholas JC, Katz DH, Tahir UA, Debban CL, Aguet F, Blackwell T, Bowler RP, Broadaway KA, Chen J, Clish CB, Coresh J, Cornell E, Cruz DE, Deo R, Doyle MF, Durda P, Ekunwe L, Floyd JS, Gill D, Guo X, Hoogeveen RC, Johnson C, Lange LA, Li Y, Manning A, Meigs JB, Mi MY, Mychaleckyj JC, Olson NC, Pratte KA, Psaty BM, Reiner AP, Ruan P, Sevilla-Gonzalez M, Shah AM, Sun Q, Tracy RP, Wen J, Wood AC, Wilson JG, Young KL, Yu B, Rooney MR, Manichaikul A, Dubin R, Mohlke KL, Rich SS, Rotter JI, Ganz P, Gerszten RE, Taylor KD, Raffield LM.

Nat Commun. 2026 Jan 22. doi: 10.1038/s41467-025-67814-1. Online ahead of print.

PMID: 41571639

Granuloma dual RNA-seq reveals composite transcriptional programs driven by neutrophils and necrosis within tuberculous granulomas. 

Viswanathan G, Hughes EJ, Gan M, Xet-Mull AM, Lowy JP, Pyle CJ, Alexander G, Swain-Lenz D, Liu Q, Tobin DM.

Sci Adv. 2026 Jan 23;12(4):eadw4619. doi: 10.1126/sciadv.adw4619. Epub 2026 Jan 21.

PMID: 41564181

 

Mendelian Randomization Methods for Causal Inference: Estimands, Identification and Inference. 

Yao M, Wang A, Li X, Liu Z.

Stat Med. 2026 Jan;45(1-2):e70394. doi: 10.1002/sim.70394.

PMID: 41569765

Application of the STAAR Framework in Detecting Rare Variant Associations with Alzheimer’s Disease and Related Dementias: Insights and Implications. 

Wang D, Abbruzzese S, Heard-Costa N, Rampersaud A, Martin E, Naj A, Akgun B, Kunkle B, Seshadri S, Peloso G; Alzheimer’s Disease Neuroimaging Initiative; Alzheimer’s Disease Sequencing Project; DeStefano AL, Li Z, Li X, Choi SH.

HGG Adv. 2026 Jan 20:100574. doi: 10.1016/j.xhgg.2026.100574. Online ahead of print.

PMID: 41560352

Mutational profiling of HIV+ diffuse large B-cell lymphoma reveals distinct mutational features with evidence of genomic instability. 

Roush SM, Beck S, Coelho J, Chirwa A, Mponda M, Kasonkanji E, Mulenga M, Tomoka T, Vensko S, Merchant A, Xu AM, Wang JR, Galeotti J, Gopal S, Yates M, Broaddus R, Painschab MS, Fedoriw Y.

AIDS. 2026 Jan 20. doi: 10.1097/QAD.0000000000004443. Online ahead of print.

PMID: 41556969

A Linear Mixed Model With Measurement Error Correction (LMM-MEC): A Method for Summary-Data-Based Multivariable Mendelian Randomization. 

Ding M, Zou F.

Genet Epidemiol. 2026 Feb;50(1):e70032. doi: 10.1002/gepi.70032.

PMID: 41553776

Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey. 

Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA, Audi J, Botha J, Whiteman DAH, Giugliani R, Muenzer J.

Mol Genet Metab. 2026 Jan 12;147(3):109734. doi: 10.1016/j.ymgme.2026.109734. Online ahead of print.

PMID: 41547052

Genetic Determinants of Heart Failure Susceptibility and Response in the Collaborative Cross Mouse Population. 

Kimball TH, Luu AN, Gural B, Lahue C, Hockett A, Ravindran S, Ali A, Dalal A, Ardery S, Sipko EL, Kirkland LG, Goyal M, Jensen BC, Berlow RB, Rau CD.

Genetics. 2026 Jan 30:iyag028. doi: 10.1093/genetics/iyag028. Online ahead of print.

PMID: 41617363

Human brain prefrontal cortex proteomics identifies compromised energy metabolism and neuronal function in Schizophrenia. 

Koopmans F, Dijkstra AA, Li WP, Klaassen RV, Gouwenberg Y, Yao S, Bast L, Verhage M, Karlsson R, Dwork AJ, Stockmeier CA, Hjerling-Leffler J, Sullivan PF, Smit AB.

Nat Commun. 2026 Jan 29. doi: 10.1038/s41467-026-68950-y. Online ahead of print.

PMID: 41611717

A genetic screen for modifiers of cohesin clustering identifies regulators of genome folding. 

Kim W, Park DS, Nguyen SC, Yang R, Joyce EF, Jain R.

Sci Adv. 2026 Jan 30;12(5):eadx5130. doi: 10.1126/sciadv.adx5130. Epub 2026 Jan 30.

PMID: 41616049