Genetic interactions affecting human gene expression identified by variance association mapping.
Brown AA, Buil A, Viñuela A, Lappalainen T, Zheng HF, Richards JB, Small KS, Spector TD, Dermitzakis ET, Durbin R.
Elife
3 :
2014
e01381
90
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins.
Buil A, Brown AA, Lappalainen T, Viñuela A, Davies MN, Zheng HF, Richards JB, Glass D, Small KS, Durbin R, Spector TD, Dermitzakis ET.
Nat Genet
47 :
2015
88-91
172
Generalised Anxiety Disorder--A Twin Study of Genetic Architecture, Genome-Wide Association and Differential Gene Expression.
Davies MN, Verdi S, Burri A, Trzaskowski M, Lee M, Hettema JM, Jansen R, Boomsma DI, Spector TD.
PLoS One
10 :
2015
e0134865
32
Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes.
Glastonbury CA, Viñuela A, Buil A, Halldorsson GH, Thorleifsson G, Helgason H, Thorsteinsdottir U, Stefansson K, Dermitzakis ET, Spector TD, Small KS.
Am J Hum Genet
99 :
2016
567-579
26
Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus.
Odhams CA, Cortini A, Chen L, Roberts AL, Viñuela A, Buil A, Small KS, Dermitzakis ET, Morris DL, Vyse TJ, Cunninghame Graham DS.
Hum Mol Genet
26 :
2017
1003-1017
40
Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort.
Viñuela A, Brown AA, Buil A, Tsai PC, Davies MN, Bell JT, Dermitzakis ET, Spector TD, Small KS.
Hum Mol Genet
27 :
2018
732-741
85
Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.
Small KS, Todorčević M, Civelek M, El-Sayed Moustafa JS, Wang X, Simon MM, Fernandez-Tajes J, Mahajan A, Horikoshi M, Hugill A, Glastonbury CA, Quaye L, Neville MJ, Sethi S, Yon M, Pan C, Che N, Viñuela A, Tsai PC, Nag A, Buil A, Thorleifsson G, Raghavan A, Ding Q, Morris AP, Bell JT, Thorsteinsdottir U, Stefansson K, Laakso M, Dahlman I, Arner P, Gloyn AL, Musunuru K, Lusis AJ, Cox RD, Karpe F, McCarthy MI.
Nat Genet
50 :
2018
572-580
125
Fasting and time of day independently modulate circadian rhythm relevant gene expression in adipose and skin tissue.
Couto Alves A, Glastonbury CA, El-Sayed Moustafa JS, Small KS.
BMC Genomics
19 :
2018
659
9
Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health.
Tsai PC, Glastonbury CA, Eliot MN, Bollepalli S, Yet I, Castillo-Fernandez JE, Carnero-Montoro E, Hardiman T, Martin TC, Vickers A, Mangino M, Ward K, Pietiläinen KH, Deloukas P, Spector TD, Viñuela A, Loucks EB, Ollikainen M, Kelsey KT, Small KS, Bell JT.
Clin Epigenetics
10 :
2018
126
99
Epigenetic findings in periodontitis in UK twins: a cross-sectional study.
Kurushima Y, Tsai PC, Castillo-Fernandez J, Couto Alves A, El-Sayed Moustafa JS, Le Roy C, Spector TD, Ide M, Hughes FJ, Small KS, Steves CJ, Bell JT.
Clin Epigenetics
11 :
2019
27
34
Nuclear genetic regulation of the human mitochondrial transcriptome.
Ali AT, Boehme L, Carbajosa G, Seitan VC, Small KS, Hodgkinson A.
Elife
8 :
2019
e41927
53
Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus.
Odhams CA, Roberts AL, Vester SK, Duarte CST, Beales CT, Clarke AJ, Lindinger S, Daffern SJ, Zito A, Chen L, Jones LL, Boteva L, Morris DL, Small KS, Fernando MMA, Cunninghame Graham DS, Vyse TJ.
Nat Commun
10 :
2019
2164
82
Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age.
Zito A, Davies MN, Tsai PC, Roberts S, Andres-Ejarque R, Nardone S, Bell JT, Wong CCY, Small KS.
Nat Commun
10 :
2019
5339
53
Decreased Immunoglobulin G Core Fucosylation, A Player in Antibody-dependent Cell-mediated Cytotoxicity, is Associated with Autoimmune Thyroid Diseases.
Martin TC, Šimurina M, Ząbczyńska M, Martinic Kavur M, Rydlewska M, Pezer M, Kozłowska K, Burri A, Vilaj M, Turek-Jabrocka R, Krnjajić-Tadijanović M, Trofimiuk-Müldner M, Ugrina I, Lityńska A, Hubalewska-Dydejczyk A, Trbojevic-Akmacic I, Lim EM, Walsh JP, Pocheć E, Spector TD, Wilson SG, Lauc G.
Mol Cell Proteomics
19 :
2020
774-792
33
Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes.
Ali AT, Idaghdour Y, Hodgkinson A.
Commun Biol
3 :
2020
147
21
Estrogen receptor α controls metabolism in white and brown adipocytes by regulating <i>Polg1</i> and mitochondrial remodeling.
Zhou Z, Moore TM, Drew BG, Ribas V, Wanagat J, Civelek M, Segawa M, Wolf DM, Norheim F, Seldin MM, Strumwasser AR, Whitney KA, Lester E, Reddish BR, Vergnes L, Reue K, Rajbhandari P, Tontonoz P, Lee J, Mahata SK, Hewitt SC, Shirihai O, Gastonbury C, Small KS, Laakso M, Jensen J, Lee S, Drevon CA, Korach KS, Lusis AJ, Hevener AL.
Sci Transl Med
12 :
2020
eaax8096
86
A compendium of uniformly processed human gene expression and splicing quantitative trait loci.
Kerimov N, Hayhurst JD, Peikova K, Manning JR, Walter P, Kolberg L, Samoviča M, Sakthivel MP, Kuzmin I, Trevanion SJ, Burdett T, Jupp S, Parkinson H, Papatheodorou I, Yates AD, Zerbino DR, Alasoo K.
Nat Genet
53 :
2021
1290-1299
314
Inferred expression regulator activities suggest genes mediating cardiometabolic genetic signals.
Hoskins JW, Chung CC, O'Brien A, Zhong J, Connelly K, Collins I, Shi J, Amundadottir LT.
PLoS Comput Biol
17 :
2021
e1009563
3
ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition-implications for COVID-19.
El-Sayed Moustafa JS, Jackson AU, Brotman SM, Guan L, Villicaña S, Roberts AL, Zito A, Bonnycastle L, Erdos MR, Narisu N, Stringham HM, Welch R, Yan T, Lakka T, Parker S, Tuomilehto J, Seow J, Graham C, Huettner I, Acors S, Kouphou N, Wadge S, Duncan EL, Steves CJ, Doores KJ, Malim MH, Collins FS, Pajukanta P, Boehnke M, Koistinen HA, Laakso M, Falchi M, Bell JT, Scott LJ, Mohlke KL, Small KS.
Int J Obes (Lond)
46 :
2022
1478-1486
32
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers.
Christiansen C, Tomlinson M, Eliot M, Nilsson E, Costeira R, Xia Y, Villicaña S, Mompeo O, Wells P, Castillo-Fernandez J, Potier L, Vohl MC, Tchernof A, Moustafa JE, Menni C, Steves CJ, Kelsey K, Ling C, Grundberg E, Small KS, Bell JT.
Genome Med
14 :
2022
75
10
Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable.
Zito A, Roberts AL, Visconti A, Rossi N, Andres-Ejarque R, Nardone S, El-Sayed Moustafa JS, Falchi M, Small KS.
PLoS Genet
19 :
2023
e1010556
24
Metabolomic biomarkers of habitual B vitamin intakes unveil novel differentially methylated positions in the human epigenome.
Costeira R, Evangelista L, Wilson R, Yan X, Hellbach F, Sinke L, Christiansen C, Villicaña S, Masachs OM, Tsai PC, Mangino M, Menni C, Berry SE, Beekman M, van Heemst D, Slagboom PE, Heijmans BT, Suhre K, Kastenmüller G, Gieger C, Peters A, Small KS, Linseisen J, Waldenberger M, Bell JT.
Clin Epigenetics
15 :
2023
166
5
Genetic effects on the skin methylome in healthy older twins.
Shore CJ, Villicaña S, El-Sayed Moustafa JS, Roberts AL, Gunn DA, Bataille V, Deloukas P, Spector TD, Small KS, Bell JT.
Am J Hum Genet
111 :
2024
1932-1952
2
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits.
Brotman SM, El-Sayed Moustafa JS, Guan L, Broadaway KA, Wang D, Jackson AU, Welch R, Currin KW, Tomlinson M, Vadlamudi S, Stringham HM, Roberts AL, Lakka TA, Oravilahti A, Fernandes Silva L, Narisu N, Erdos MR, Yan T, Bonnycastle LL, Raulerson CK, Raza Y, Yan X, Parker SCJ, Kuusisto J, Pajukanta P, Tuomilehto J, Collins FS, Boehnke M, Love MI, Koistinen HA, Laakso M, Mohlke KL, Small KS, Scott LJ.
Nat Genet
57 :
2025
180-192
19
Twin pair analysis uncovers links between DNA methylation, mitochondrial DNA quantity and obesity.
Heikkinen A, Esser VFC, Lee SHT, Lundgren S, Hakkarainen A, Lundbom J, Kuula J, Groop PH, Heinonen S, Villicaña S, Bell JT, Maguolo A, Nilsson E, Ling C, Vaag A, Pajukanta P, Kaprio J, Pietiläinen KH, Li S, Ollikainen M.
Nat Commun
16 :
2025
4374
0
Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.
Freimann K, Brümmer A, Warmerdam R, Rupall TS, Hernández-Ledesma AL, Chiou J, Holzinger ER, Maranville JC, Nakic N, Ongen H, Stefanucci L, Turchin MC, eQTLGen Consortium, Franke L, Võsa U, Jones CP, Medina-Rivera A, Trynka G, Kisand K, Bergmann S, Alasoo K.
Nat Commun
16 :
2025
8795
0