Genetic Predisposition to Prediabetes in the Kazakh Population

Autor: Gulnara Svyatova, Galina Berezina, Alexandra Murtazaliyeva, Altay Dyussupov, Tatyana Belyayeva, Raida Faizova, Azhar Dyussupova

Publikováno v: Current Issues in Molecular Biology, Vol 46, Iss 10, Pp 10913-10922 (2024)

The aim of this study was to conduct a comparative analysis of the population frequencies of the minor allele of polymorphic variants in the genes TCF7L2 (rs7903146) and PPARG (rs1801282), based on the genome-wide association studies analysis data as

Externí odkaz: https://doaj.org/article/84234e425587451e96947cb623ad1de3

Genotype‐phenotype association in congenital adrenal hyperplasia due to 21‐hydroxylase deficiency in children

Autor: Tamara Ermakhanova, Rimma Bazarbekova, Gulnara Svyatova, Ainur Dossanova

Publikováno v: Clinical Endocrinology. 98:654-661

Deficiency of the 21-hydroxylase enzyme affects the hormonal background of the body, which causes congenital adrenal hyperplasia (CAH).The purpose of this study was to investigate the clinical manifestation of various forms of CAH in children of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81dd91963cb4f1939e4ea971f957496b
https://doi.org/10.1111/cen.14859

Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

Autor: Dilbar Najmutdinova, Firuza Nishanova, Tatyana Hegay, John P. Kemp, Anna Helgadottir, Lucilla Poston, Saedis Saevarsdottir, Ralph McGinnis, Lilja Stefansdottir, Yr Frisbaek, Hrefna Johannsdottir, Olafur A. Stefansson, Thorunn A. Olafsdottir, Markus Perola, Scott Shooter, Frank Geller, Mads Melbye, Reynir Tómas Geirsson, Lill Trogstad, Thorhildur Juliusdottir, Kari Stefansson, Jonas Bybjerg-Grauholm, Eleonora Staines-Urias, Nodira Zakhidova, Daniel F. Gudbjartsson, Vinicius Tragante, João Fadista, Galina Berezina, Damilya Salimbayeva, Zosia Miedzybrodska, Katja Kivinen, James J. Walker, Kari Klungsøyr, Anna F. Dominiczak, Maria Carolina Borges, Fiona Broughton Pipkin, Nigel Simpson, Quaker E. Harmon, Per Magnus, Ashley Moffett, Tamara Aripova, Gordon Prescott, Sigrun Hjartardottir, Noor Kalsheker, Karina Meden Sørensen, Nicholas Williams, Hannele Laivuori, David M. Hougaard, Gulnara Svyatova, Debbie A Lawlor, Stephanie M. Engel, Gudmar Thorleifsson, Wai K. Lee, Paula J. Scaife, Christopher S. Franklin, Bjarke Feenstra, Irina Colgiu, Ann-Charlotte Iversen, Abdumadjit Kasimov, Jon K. Sigurdsson, Liv Cecilie Vestrheim Thomsen, Unnur Thorsteinsdottir, Line Skotte, Linda Morgan, Juan P Casas, Michael L. Frigge, Vivien A. Dolby, Frank Dudbridge, Valgerdur Steinthorsdottir, Suzannah Bumpstead, Kirsi M Auro, Ingileif Jonsdottir, Tiina Jääskeläinen, Heather A. Boyd, Solveig Gretarsdottir

Publikováno v: Nature Communications
Steinthorsdottir, V, McGinnis, R, Williams, N O, Stefansdottir, L, Thorleifsson, G, Shooter, S, Fadista, J, Sigurdsson, J K, Auro, K M, Berezina, G, Borges, M C, Bumpstead, S, Bybjerg-Grauholm, J, Colgiu, I, Dolby, V A, Dudbridge, F, Engel, S M, Franklin, C S, Frigge, M L, Frisbaek, Y, Geirsson, R T, Geller, F, Gretarsdottir, S, Gudbjartsson, D F, Harmon, Q, Hougaard, D M, Hegay, T, Helgadottir, A, Hjartardottir, S, Jääskeläinen, T, Johannsdottir, H, Jonsdottir, I, Juliusdottir, T, Kalsheker, N, Kasimov, A, Kemp, J P, Kivinen, K, Klungsøyr, K, Lee, W K, Melbye, M, Miedzybrodska, Z, Moffett, A, Najmutdinova, D, Nishanova, F, Olafsdottir, T, Perola, M, Pipkin, F B, Skotte, L, Sørensen, K M, Kere, J, FINNPEC Consortium & GOPEC Consortium 2020, ' Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women ', Nature Communications, vol. 11, no. 1, 5976 . https://doi.org/10.1038/s41467-020-19733-6
et al. 2020, ' Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women ', Nature Communications, vol. 11, 5976 (2020) . https://doi.org/10.1038/s41467-020-19733-6
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
2020, ' Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women ', Nature Communications, vol. 11, no. 1, 5976 . https://doi.org/10.1038/s41467-020-19733-6

Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that associate with preeclampsia in the mater

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5c6a59b93fb4d8ac17970c34bafb35f
https://hdl.handle.net/11250/2754126

Replicative study of susceptibility to childhood-onset schizophrenia in Kazakhs

Autor: A. V. Bocharova, A. V. Marusin, Gulnara Svyatova, K. Z. Saduakassova, Vadim Stepanov, K. V. Vagaitseva, Lada A. Koneva

Publikováno v: Russian Journal of Genetics. 51:185-192

This paper reports the results of replicative analysis of associations of 15 SNPs in a region of 14 genes previously identified in genome-wide association studies (GWAS) with early-onset schizophrenia in Kazakhs. An association of early-onset schizop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::168a8ca140d947285fea854844881467
https://doi.org/10.1134/s1022795415020143

The analysis of the genetic structure of the Kazakh population as estimated from mitochondrial DNA polymorphism

Autor: Zhanar Makhmutova, Galina Berezina, Gulnara Svyatova

Publikováno v: Medical and Health Science Journal. 6:2-6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b9b53704981ddacfa3c5875a21702b08
https://doi.org/10.15208/mhsj.2010.99