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  1. 2025

  2. A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins

    Sharapov, S., Timoshchuk, A., Zaytseva, O., Maslov, D. E., Soplenkova, A., Elgaeva, E. E., Tiys, E. S., Mangino, M., Wittenbecher, C., Karssen, L., Timofeeva, M., Nostaeva, A., Vuckovic, F., Trbojević-Akmačić, I., Štambuk, T., Feoktistova, S., Potapova, N. A., Voroshilova, V., Williams, F., Primorac, D., & 11 othersVan zundert, J., Georges, M., Suhre, K., Allegri, M., Chaturvedi, N., Dunlop, M., Schulze, M. B., Spector, T., Tsepilov, Y. A., Lauc, G. & Aulchenko, Y. S., 1 Jul 2025, In: Nature Communications. 16, 1, 5525.

    Research output: Contribution to journal › Article › peer-review

  3. A comparison of approaches to studying relationships between lumbar spinal degeneration findings demonstrates advantages to interspace-level analyses over person-level analyses

    Suri, P., Elgaeva, E., Jarvik, J., Rundell, S., Tsepilov, Y., Williams, F. & Heagerty, P., 10 Jun 2025, In: European Spine Journal.

    Research output: Contribution to journal › Article › peer-review

  4. Decomposing the genetic background of chronic back pain

    Elgaeva, E. E., Zorkoltseva, I. V., Nostaeva, A. V., Verzun, D. A., Tiys, E. S., Timoshchuk, A. N., Kirichenko, A. V., Svishcheva, G. R., Freidin, M. B., Williams, F. M. K., Suri, P., Aulchenko, Y. S., Axenovich, T. I. & Tsepilov, Y. A., 15 Apr 2025, In: Human Molecular Genetics. 34, 8, p. 711-725 15 p.

    Research output: Contribution to journal › Article › peer-review

  5. A Mendelian randomization study finds no evidence for causal effects of C-reactive protein on chronic pain conditions

    Suri, P., Tsepilov, Y. A., Elgaeva, E. E., Williams, F. M. K., Freidin, M. B. & Stanaway, I. B., 1 Apr 2025, In: Pain medicine (Malden, Mass.). 26, 4, p. 222-224 3 p.

    Research output: Contribution to journal › Article › peer-review

  6. A multi-trait approach identified 7 novel genes for back pain

    Belonogova, N. M., Elgaeva, E. E., Zorkoltseva, I. V., Kirichenko, A. V., Svishcheva, G. R., Freidin, M. B., Williams, F. M. K., Suri, P., Axenovich, T. I. & Tsepilov, Y. A., Feb 2025, In: Pain Reports. 10, 1, p. e1218 e1218.

    Research output: Contribution to journal › Article › peer-review

  7. The association of lumbar intervertebral disc degeneration with low back pain is modified by underlying genetic propensity to pain

    Suri, P., Naeini, M. K., Heagerty, P. J., Freidin, M. B., Smith, I. G., Elgaeva, E. E., Compte, R., Tsepilov, Y. A. & Williams, F. M. K., Jan 2025, In: Spine Journal. 25, 1, p. 8-17 10 p.

    Research output: Contribution to journal › Article › peer-review

  8. 2024

  9. Genotype imputation in human genomic studies

    Berdnikova, A. A., Zorkoltseva, I. V., Tsepilov, Y. A. & Elgaeva, E. E., Oct 2024, In: Vavilovskii Zhurnal Genetiki i Selektsii. 28, 6, p. 628-639 12 p.

    Research output: Contribution to journal › Article › peer-review

  10. Reconstruction of a Matrix of Genotypic Correlations between Variants within a Gene for Joint Analysis of Imputed and Sequenced Data

    Svishcheva, G. R., Kirichenko, A. V., Belonogova, N. M., Elgaeva, E. E., Tsepilov, Y. A., Zorkoltseva, I. V. & Axenovich, T. I., Jul 2024, In: Russian Journal of Genetics. 60, 7, p. 969-976 8 p., 13.

    Research output: Contribution to journal › Article › peer-review

  11. Bidirectional Mendelian randomization analysis of back pain and 22 associated factors

    Елгаева, Е. Е., Williams, F. M. K., Зайцева, О. О., Freidin, M. B., Aulchenko, Y. S., Цепилов, Я. А. & Suri, P., Jan 2024, In: European journal of human genetics. 32, S1, p. 346 1 p., EP25.008.

    Research output: Contribution to journal › Conference article › peer-review

  12. Exome sequencing association analysis replicated the role of rare variants of SLC13A1 in back pain

    Zorkoltseva, I. V., Елгаева, Е. Е., Kirichenko, A., Belonogova, N. M., Svishcheva, G. R., Цепилов, Я. А. & Axenovich, T. I., Jan 2024, In: European journal of human genetics. 32, S1, p. 345 1 p., EP25.005.

    Research output: Contribution to journal › Conference article › peer-review

  13. A genome-wide association study of the plasma N-glycome of 10,000 individuals significantly expands the list of associated loci

    Шарапов, С. Ж., Timoshchuk, A. N., Зайцева, О. О., Maslov, D., Soplenkova, A., Елгаева, Е. Е., Vuckovic, F., Trbojević-Akmačić, I., Williams, F. M. K., Primorac, D., Zundert, J. V., Georges, M., Suhre, K., Allegri, M., Chaturvedi, N., Dunlop, M. G., Schulze, M. B., Spector, T. D., Цепилов, Я. А., Lauc, G., & 1 othersАульченко, Ю. С., 2024, In: European journal of human genetics. 32, S2, p. 1177-1178 2 p., EP17.012.

    Research output: Contribution to journal › Conference article › peer-review

  14. Differential gene expression in degenerative lumbar discs from the Russian disc degeneration study (RuDDS) biobank

    Тяпкин, А. В., Иванов, А. А., Леонова, О. Н., Krutko, A. V., Peleganchuk, A. V., Фишман, В. С., Елгаева, Е. Е. & Цепилов, Я. А., 2024, In: European journal of human genetics. 32, S2, p. 996-997 2 p., EP06.052.

    Research output: Contribution to journal › Article › peer-review

  15. New genes for back pain-related phenotypes identified by multi-trait gene-based association analysis

    Belonogova, N. M., Елгаева, Е. Е., Zorkoltseva, I. V., Kirichenko, A., Svishcheva, G. R., Freidin, M. B., Williams, F. M. K., Suri, P., Axenovich, T. I. & Цепилов, Я. А., 2024, In: European journal of human genetics. 32, S2, p. 1177 1 p., EP17.011.

    Research output: Contribution to journal › Conference article › peer-review

  16. 2023

  17. Repurposing Antihypertensive and Statin Medications for Spinal Pain: A Mendelian Randomization Study

    Suri, P., Elgaeva, E. E., Williams, F. M. K., Freidin, M. B., Verzun, D. A. & Tsepilov, Y. A., 15 Nov 2023, In: Spine. 48, 22, p. 1568-1574 7 p.

    Research output: Contribution to journal › Article › peer-review

  18. Multi-Trait Exome-Wide Association Study of Back Pain-Related Phenotypes

    Zorkoltseva, I. V., Elgaeva, E. E., Belonogova, N. M., Kirichenko, A. V., Svishcheva, G. R., Freidin, M. B., Williams, F. M. K., Suri, P., Tsepilov, Y. A. & Axenovich, T. I., 19 Oct 2023, In: Genes. 14, 10, 1962.

    Research output: Contribution to journal › Article › peer-review

  19. Bidirectional Mendelian Randomization study of personality traits reveals a positive feedback loop between neuroticism and back pain

    Elgaeva, E. E., Williams, F. M. K., Zaytseva, O. O., Freidin, M. B., Aulchenko, Y. S., Suri, P. & Tsepilov, Y. A., Oct 2023, In: The journal of pain. 24, 10, p. 1875-1885 11 p.

    Research output: Contribution to journal › Article › peer-review

  20. Evidence of causal effects of blood pressure on back pain and back pain on type II diabetes provided by a bidirectional Mendelian randomization study

    Suri, P., Elgaeva, E. E., Williams, F. M. K., Freidin, M. B., Zaytseva, O. O., Aulchenko, Y. S. & Tsepilov, Y. A., Aug 2023, In: Spine Journal. 23, 8, p. 1161-1171 11 p.

    Research output: Contribution to journal › Article › peer-review

  21. Genotype-by-environment interactions in chronic back pain

    Kuznetsov, I. A., Tsepilov, Y. A., Freidin, M. B., Williams, F. M. K., Suri, P. & Aulchenko, Y. S., Aug 2023, In: Spine Journal. 23, 8, p. 1108-1114 7 p.

    Research output: Contribution to journal › Article › peer-review

  22. Development and Replication of a Genome-Wide Polygenic Risk Score for Chronic Back Pain

    Tsepilov, Y. A., Elgaeva, E. E., Nostaeva, A. V., Compte, R., Kuznetsov, I. A., Karssen, L. C., Freidin, M. B., Suri, P., Williams, F. M. K. & Aulchenko, Y. S., 10 Jun 2023, In: Journal of Personalized Medicine. 13, 6, 977.

    Research output: Contribution to journal › Article › peer-review

  23. 2022

  24. Genetic regulation of post-translational modification of two distinct proteins

    Landini, A., Trbojević-Akmačić, I., Navarro, P., Tsepilov, Y. A., Sharapov, S. Z., Vučković, F., Polašek, O., Hayward, C., Petrović, T., Vilaj, M., Aulchenko, Y. S., Lauc, G., Wilson, J. F. & Klarić, L., Dec 2022, In: Nature Communications. 13, 1, 1 p., 1586.

    Research output: Contribution to journal › Article › peer-review

  25. Method for the Isolation of “RNA-seq-Quality” RNA from Human Intervertebral Discs after Mortar and Pestle Homogenization

    Ivanov, A. A., Leonova, O. N., Wiebe, D. S., Krutko, A. V., Gridina, M. M., Fishman, V. S., Aulchenko, Y. S., Tsepilov, Y. A. & Golubeva, T. S., Nov 2022, In: Cells. 11, 22, 3578.

    Research output: Contribution to journal › Article › peer-review

  26. A Novel Framework for Analysis of the Shared Genetic Background of Correlated Traits

    Svishcheva, G. R., Tiys, E. S., Elgaeva, E. E., Feoktistova, S. G., Timmers, P. R. H. J., Sharapov, S. Z., Axenovich, T. I. & Tsepilov, Y. A., Oct 2022, In: Genes. 13, 10, 1694.

    Research output: Contribution to journal › Article › peer-review

  27. Non-coding rare variants in PANX3 are associated with chronic back pain

    Belonogova, N. M., Kirichenko, A. V., Freidin, M. B., Williams, F. M. K., Suri, P., Aulchenko, Y. S., Axenovich, T. I. & Tsepilov, Y. A., 15 Sept 2022, In: Pain. 164, 4, p. 864-869 6 p.

    Research output: Contribution to journal › Article › peer-review

  28. Causal effects of psychosocial factors on chronic back pain: a bidirectional Mendelian randomisation study

    Williams, F. M. K., Elgaeva, E. E., Freidin, M. B., Zaytseva, O. O., Aulchenko, Y. S., Tsepilov, Y. A. & Suri, P., Jul 2022, In: European Spine Journal. 31, 7, p. 1906-1915 10 p.

    Research output: Contribution to journal › Article › peer-review

  29. Платформа GWAS-MAP|ovis для хранения и анализа результатов полногеномных ассоциативных исследований овец

    A V Kirichenko, A. V., Zlobin, A. S., Shashkova, T. I., Volkova, N. A., Iolchiev, B. S., Bagirov, V. A., Borodin, P. M., Karssen, L. С., Tsepilov, Y. A. & Aulchenko, Y. S., Jul 2022, In: Vavilovskii Zhurnal Genetiki i Selektsii. 26, 4, p. 378-384 7 p., 6.

    Research output: Contribution to journal › Article › peer-review

  30. sumSTAAR: A flexible framework for gene-based association studies using GWAS summary statistics

    Belonogova, N. M., Svishcheva, G. R., Kirichenko, A. V., Zorkoltseva, I. V., Tsepilov, Y. A. & Axenovich, T. I., Jun 2022, In: PLoS Computational Biology. 18, 6, e1010172.

    Research output: Contribution to journal › Article › peer-review

  31. Investigation of the causal relationships between human IgG N-glycosylation and 12 common diseases associated with changes in the IgG N-glycome

    Zaytseva, O. O., Sharapov, S. Z., Perola, M., Esko, T., Landini, A., Hayward, C., Wilson, J. F., Lauc, G., Aulchenko, Y. S., Klarić, L. & Tsepilov, Y. A., 15 May 2022, In: Human Molecular Genetics. 31, 10, p. 1545-1559 15 p.

    Research output: Contribution to journal › Article › peer-review

  32. A protocol for recruiting and analyzing the disease-oriented Russian disc degeneration study (RuDDS) biobank for functional omics studies of lumbar disc degeneration

    Leonova, O. N., Elgaeva, E. E., Golubeva, T. S., Peleganchuk, A. V., Krutko, A. V., Aulchenko, Y. S. & Tsepilov, Y. A., May 2022, In: PLoS ONE. 17, 5, e0267384.

    Research output: Contribution to journal › Article › peer-review

  33. Mendelian randomization analysis of plasma levels of CD209 and MICB proteins and the risk of varicose veins of lower extremities

    Shadrina, A. S., Elgaeva, E. E., Stanaway, I. B., Jarvik, G. P., Namjou, B., Wei, W. Q., Glessner, J., Hakonarson, H., Suri, P. & Tsepilov, Y. A., May 2022, In: PLoS ONE. 17, 5, e0268725.

    Research output: Contribution to journal › Article › peer-review

  34. In silico genome-wide gene-based association analysis reveals new genes predisposing to coronary artery disease

    Zorkoltseva, I., Shadrina, A., Belonogova, N., Kirichenko, A., Tsepilov, Y. & Axenovich, T., Jan 2022, In: Clinical Genetics. 101, 1, p. 78-86 9 p.

    Research output: Contribution to journal › Article › peer-review

  35. Mendelian randomization of genetically independent aging phenotypes identifies LPA and VCAM1 as biological targets for human aging

    Timmers, P. R. H. J., Tiys, E. S., Sakaue, S., Akiyama, M., Kiiskinen, T. T. J., Zhou, W., Hwang, S. J., Yao, C., Kamatani, Y., Zhou, W., Deelen, J., Levy, D., Ganna, A., Kamatani, Y., Okada, Y., Joshi, P. K., Wilson, J. F. & Tsepilov, Y. A., Jan 2022, In: Nature Aging. 2, 1, p. 19-30 12 p.

    Research output: Contribution to journal › Article › peer-review

  36. Evaluation of causal relationships between varicose veins of lower extremities and knee osteoarthritis using large-scale genetic data

    Shadrina, A. S., Elgaeva, E. E., Freidin, M. B. & Цепилов, Я. А., 2022, p. 301. 1 p.

    Research output: Contribution to conference › Abstract › peer-review

  37. Meta-analysis of genome-wide association studies for N-glycosylation in 10,000 individuals

    Шарапов, С. Ж., Цепилов, Я. А., Елгаева, Е. Е., Тийс, Е. С., Ностаева, А. В., Vuckovic, F., Trbojević-Akmačić, I., Georges, M., Suhre, K., Chaturvedi, N., Campbell, H., Dunlop, M. G., Williams, F. M. K., Schulze, M. B., Spector, T. D., Lauc, G. & Аульченко, Ю. С., 2022, p. 589. 1 p.

    Research output: Contribution to conference › Abstract › peer-review

  38. New genes for coronary artery disease detected via gene-based association analysis

    Zorkoltseva, I. V., Belonogova, N. M., Shadrina, A. S., Kirichenko, A., Цепилов, Я. А. & Аксенович, Т. И., 2022, p. 587-588. 2 p.

    Research output: Contribution to conference › Abstract › peer-review

  39. Sitting-to-standing height ratio is a sex-specific risk factor for chronic back pain

    Freidin, M. B., Цепилов, Я. А., Аульченко, Ю. С., Suri, P. & Williams, F. M. K., 2022, p. 157-158. 2 p.

    Research output: Contribution to conference › Abstract › peer-review

  40. 2021

  41. Отрицательный гетерозис по частоте мейотической рекомбинации в сперматоцитах домашней курицы Gallus gallus

    Malinovskaya, L. P., Tishakova, K., Bikchurina, T., Slobodchikova, A. Y., Torgunakov, N. Y., Torgasheva, A. A., Tsepilov, Y. A., Volkova, N. A. & Borodin, P. M., Oct 2021, In: Vavilovskii Zhurnal Genetiki i Selektsii. 25, 6, p. 661-668 8 p., 8.

    Research output: Contribution to journal › Article › peer-review

  42. Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain

    Rahman, M. S., Winsvold, B. S., Chavez Chavez, S. O., Børte, S., Tsepilov, Y. A., Sharapov, S. Z., Aulchenko, Y. S., Hagen, K., Fors, E. A., Hveem, K., Zwart, J. A., Van Meurs, J. B., Freidin, M. B. & Williams, F. M. K., 1 Sept 2021, In: Annals of the rheumatic diseases. 80, 9, p. 1227-1235 9 p.

    Research output: Contribution to journal › Article › peer-review

  43. Genome-wide association studies of low back pain and lumbar spinal disorders using electronic health record data identify a locus associated with lumbar spinal stenosis

    Suri, P., Stanaway, I. B., Zhang, Y., Freidin, M. B., Tsepilov, Y. A., Carrell, D. S., Williams, F. M. K., Aulchenko, Y. S., Hakonarson, H., Namjou, B., Crosslin, D. R., Jarvik, G. P. & Lee, M. T., 1 Aug 2021, In: Pain. 162, 8, p. 2263-2272 10 p.

    Research output: Contribution to journal › Article › peer-review

  44. Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function

    Shadrina, A. S., Zlobin, A. S., Zaytseva, O. O., Klarić, L., Sharapov, S. Z., D Pakhomov, E., Perola, M., Esko, T., Hayward, C., Wilson, J. F., Lauc, G., Aulchenko, Y. S. & Tsepilov, Y. A., 1 Jul 2021, In: Human Molecular Genetics. 30, 13, p. 1259-1270 12 p.

    Research output: Contribution to journal › Article › peer-review

  45. Number of Genes Associated with Neuroticism due to Their Polymorphisms

    Axenovich, T. I., Belonogova, N. M., Zorkoltseva, I. V. & Tsepilov, Y. A., Jul 2021, In: Russian Journal of Genetics. 57, 7, p. 863-866 4 p.

    Research output: Contribution to journal › Article › peer-review

  46. Flexible Framework for Gene-Based Association Studies using GWAS Summary Statistics

    Belonogova, N., Svishcheva, G., Tsepilov, Y. & Axenovich, T., May 2021, In: Human Heredity. 85, 2, p. 72-72 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  47. Genetically independent Phenotype Analysis Identifies LPA and VCAM1 as Drug Targets for Human Ageing

    Timmers, P., Tiys, E., Sakaue, S., Akiyama, M., Kiiskinen, T., Zhou Wei, Hwang, S-J., Yao Chen, Deelen, J., Levy, D., Ganna, A., Kamatani, Y., Okada, Y., Joshi, P., Wilson, J. F. & Tsepilov, Y., May 2021, In: Human Heredity. 85, 2, p. 95-95 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  48. Sex- and age-specific genetic analysis of chronic back pain

    HUNT All-In Pain, 1 Apr 2021, In: Pain. 162, 4, p. 1176-1187 12 p.

    Research output: Contribution to journal › Article › peer-review

  49. Multivariate analysis identifies eight novel loci associated with meat productivity traits in sheep

    Zlobin, A. S., Nikulin, P. S., Volkova, N. A., Zinovieva, N. A., Iolchiev, B. S., Bagirov, V. A., Borodin, P. M., Aksenovich, T. I. & Tsepilov, Y. A., Mar 2021, In: Genes. 12, 3, p. 1-11 11 p., 367.

    Research output: Contribution to journal › Article › peer-review

  50. Nontrivial Replication of Loci Detected by Multi-Trait Methods

    Ning, Z., Tsepilov, Y. A., Sharapov, S. Z., Wang, Z., Grishenko, A. K., Feng, X., Shirali, M., Joshi, P. K., Wilson, J. F., Pawitan, Y., Haley, C. S., Aulchenko, Y. S. & Shen, X., 3 Feb 2021, In: Frontiers in Genetics. 12, 627989.

    Research output: Contribution to journal › Article › peer-review

  51. Replication of 15 loci involved in human plasma protein N-glycosylation in 4802 samples from four cohorts

    Sharapov, S. Z., Shadrina, A. S., Tsepilov, Y. A., Elgaeva, E. E., Tiys, E. S., Feoktistova, S. G., Zaytseva, O. O., Vuckovic, F., Cuadrat, R., Jäger, S., Wittenbecher, C., Karssen, L. C., Timofeeva, M., Tillin, T., Trbojević-Akmačić, I., Štambuk, T., Rudman, N., Krištić, J., Šimunović, J., Momčilović, A., & 21 othersVilaj, M., Jurić, J., Slana, A., Gudelj, I., Klarić, T., Puljak, L., Skelin, A., Kadić, A. J., Van Zundert, J., Chaturvedi, N., Campbell, H., Dunlop, M., Farrington, S. M., Doherty, M., Dagostino, C., Gieger, C., Allegri, M., Williams, F., Schulze, M. B., Lauc, G. & Aulchenko, Y. S., 1 Feb 2021, In: Glycobiology. 31, 2, p. 82-88 7 p.

    Research output: Contribution to journal › Article › peer-review

  52. Gene-based association analysis identifies 190 genes affecting neuroticism

    Belonogova, N. M., Zorkoltseva, I. V., Tsepilov, Y. A. & Axenovich, T. I., 28 Jan 2021, In: Scientific Reports. 11, 1, 2484.

    Research output: Contribution to journal › Article › peer-review

  53. 2020

  54. A study of causal relationships between human IgG N-glycosylation traits and twelve associated diseases

    Zaitseva, O. O., Sharapov, S. Z., Klaric, L., Lauc, G. & Tsepilov, Y. A., Dec 2020, In: Glycobiology. 30, 12, p. 1132-1132 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  55. The GWAS-MAP platform for aggregation of results of genome-wide association studies and the GWAS-MAP|homo database of 70 billion genetic associations of human traits

    Shashkova, T. I., Gorev, D. D., Pakhomov, E. D., Shadrina, A. S., Sharapov, S. Z., Tsepilov, Y. A., Karssen, L. C. & Aulchenko, Y. S., Dec 2020, In: Vavilovskii Zhurnal Genetiki i Selektsii. 24, 8, p. 876-884 9 p., 9.

    Research output: Contribution to journal › Article › peer-review

  56. Candidate genes for age at menarche are associated with endometriosis

    Ponomarenko, I., Reshetnikov, E., Polonikov, A., Verzilina, I., Sorokina, I., Elgaeva, E. E., Tsepilov, Y. A., Yermachenko, A., Dvornyk, V. & Churnosov, M., Nov 2020, In: Reproductive BioMedicine Online. 41, 5, p. 943-956 14 p.

    Research output: Contribution to journal › Article › peer-review

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