TY - JOUR AU - Tordai, Dóra Zsuzsanna AU - Hajdú, Noémi AU - Rácz, Ramóna AU - Istenes, Ildikó AU - Békeffy, Magdolna Zsófia AU - Vági, Orsolya AU - Kempler, Miklós AU - Körei, Anna Erzsébet AU - Tóbiás, Bálint AU - Illés, Anett AU - Pikó, Henriett AU - Kósa, János AU - Árvai, Kristóf AU - Papp, Márton AU - Lakatos, Péter AU - Kempler, Péter AU - Putz, Zsuzsanna TI - Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes. JF - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES J2 - INT J MOL SCI VL - 25 PY - 2024 IS - 3 PG - 15 SN - 1661-6596 DO - 10.3390/ijms25031815 UR - https://m2.mtmt.hu/api/publication/34574277 ID - 34574277 N1 - Department of Internal Medicine and Oncology, Semmelweis University, Budapest, 1083, Hungary Department of Internal Medicine and Hematology, Semmelweis University, Budapest, 1085, Hungary PentaCore Laboratory, Budapest, 1134, Hungary Vascular Diagnostics Ltd, Budapest, 1026, Hungary Eötvös Lóránd Scientific Network ENDOMOLPAT, Semmelweis University, Budapest, 1085, Hungary Centre for Bioinformatics, University of Veterinary Medicine, Budapest, 1078, Hungary Export Date: 10 March 2024 Correspondence Address: Tordai, D.Z.; Department of Internal Medicine and Oncology, Hungary; email: tordai.dora@med.semmelweis-univ.hu AB - Neuropathy is a serious and frequent complication of type 2 diabetes (T2DM). This study was carried out to search for genetic factors associated with the development of diabetic neuropathy by whole exome sequencing. For this study, 24 patients with long-term type 2 diabetes with neuropathy and 24 without underwent detailed neurological assessment and whole exome sequencing. Cardiovascular autonomic function was evaluated by cardiovascular reflex tests. Heart rate variability was measured by the triangle index. Sensory nerve function was estimated by Neurometer and Medoc devices. Neuropathic symptoms were characterized by the neuropathy total symptom score (NTSS). Whole exome sequencing (WES) was performed on a Thermo Ion GeneStudio S5 system determining the coding sequences of approximately 32,000 genes comprising 50 million base pairs. Variants were detected by Ion Reporter software and annotated using ANNOVAR, integrating database information from dbSNP, ClinVar, gnomAD, and OMIM. Integrative genomics viewer (IGV) was used for visualization of the mapped reads. We have identified genetic variants that were significantly associated with increased (22-49-fold) risk of neuropathy (rs2032930 and rs2032931 of recQ-mediated genome instability protein 2 (RMI2) gene), rs604349 of myosin binding protein H like (MYBPHL) gene and with reduced (0.07-0.08-fold) risk (rs917778 of multivesicular body subunit 12B (MVB12B) and rs2234753 of retinoic acid X receptor alpha (RXRA) genes). The rs2032930 showed a significant correlation with current perception thresholds measured at 5 Hz and 250 Hz for n. medianus (p = 0.042 and p = 0.003, respectively) and at 5 Hz for n. peroneus (p = 0.037), as well as the deep breath test (p = 0.022) and the NTSS (p = 0.023). The rs2032931 was associated with current perception thresholds (p = 0.003 and p = 0.037, respectively), deep breath test (p = 0.022), and NTSS (p = 0.023). The rs604349 correlated with values measured at 2000 (p = 0.049), 250 (p = 0.018), and 5 Hz (p = 0.005) for n. medianus, as well as warm perception threshold measured by Medoc device (p = 0.042). The rs2234753 showed correlations with a current perception threshold measured at 2000 Hz for n. medianus (p = 0.020), deep breath test (p = 0.040), and NTSS (p = 0.003). There was a significant relationship between rs91778 and cold perception threshold (p = 0.013). In our study, genetic variants have been identified that may have an impact on the risk of neuropathy developing in type 2 diabetic patients. These results could open up new opportunities for early preventive measures and might provide targets for new drug developments in the future. LA - English DB - MTMT ER - TY - JOUR AU - Tóbiás, Bálint AU - Pikó, Henriett AU - Árvai, Kristóf AU - Illés, Anett AU - Putz, Zsuzsanna AU - Balla, Bernadett AU - Takács, István AU - Lakatos, Péter AU - Kósa, János TI - A FARMAKOGENETIKA JELENTŐSÉGE A KORSZERŰ BETEGELLÁTÁSBAN JF - MAGYAR BELORVOSI ARCHIVUM J2 - MBA VL - 76 PY - 2023 IS - 5-6 SP - 336 EP - 336 PG - 1 SN - 0133-5464 UR - https://m2.mtmt.hu/api/publication/34568212 ID - 34568212 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Illés, Anita AU - Pikó, Henriett AU - Kósa, János AU - Lukács, V AU - Ferenczy, M AU - Lakatos, Péter TI - A KIF21A GÉNBEN AZONOSÍTOTT ÖSSZETETT HETEROZIGÓTA FUNKCIÓVESZTÉSES VARIÁNSOK SZEREPE A MAGZATI DEFORMITÁSOK HÁTTERÉBEN JF - MAGYAR BELORVOSI ARCHIVUM J2 - MBA VL - 76 PY - 2023 IS - 5-6 SP - 312 EP - 312 PG - 1 SN - 0133-5464 UR - https://m2.mtmt.hu/api/publication/34561783 ID - 34561783 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Balla, Bernadett AU - Bojtor, B AU - Kósa, János AU - Pikó, Henriett AU - Árvai, Kristóf AU - Illés, Anett AU - Tóbiás, Bálint AU - Vaszilkó, Mihály Tamás AU - Podani, János AU - Lakatos, Péter TI - A GYÓGYSZER INDUKÁLTA ÁLLCSONTNECROSIS GÉNDIAGNOSZTIKAI ALAPÚ RIZIKÓBECSLÉSE SZEMÉLYRE-SZABOTT TERÁPIA MEGVALÓSÍTÁSÁHOZ JF - MAGYAR BELORVOSI ARCHIVUM J2 - MBA VL - 76 PY - 2023 IS - 5-6 SP - 298 EP - 299 PG - 2 SN - 0133-5464 UR - https://m2.mtmt.hu/api/publication/34558146 ID - 34558146 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Kulisch, Ágota AU - Mándó, Zsuzsanna AU - Sándor, Enikő AU - Lengyel, Zsuzsanna AU - Illés, Anett AU - Kósa, János AU - Árvai, Kristóf AU - Lakatos, Péter AU - Tóbiás, Bálint AU - Papp, Márton AU - Bender, Tamás TI - Evaluation of the effects of Lake Hévíz sulfur thermal water on skin microbiome in plaque psoriasis: An open label, pilot study JF - INTERNATIONAL JOURNAL OF BIOMETEOROLOGY J2 - INT J BIOMETEOROL VL - 67 PY - 2023 IS - 4 SP - 661 EP - 673 PG - 13 SN - 0020-7128 DO - 10.1007/s00484-023-02443-1 UR - https://m2.mtmt.hu/api/publication/33682489 ID - 33682489 AB - Psoriasis is a chronic inflammatory skin disease. It is associated with changes in skin microbiome. The aim of this study was to evaluate how Lake Hévíz sulfur thermal water influences the composition of microbial communities that colonizes skin in patients with psoriasis. Our secondary objective was to investigate the effects of balneotherapy on disease activity. In this open label study, participants with plaque psoriasis underwent 30-min therapy sessions in Lake Hévíz, at a temperature of 36 °C, five times a week for 3 weeks. The skin microbiome samples were collected by swabbing method from two different areas (lesional skin-psoriatic plaque and non-lesional skin). From 16 patients, 64 samples were processed for a 16S rRNA sequence-based microbiome analysis. Outcome measures were alpha-diversity (Shannon, Simpson, and Chao1 indexes), beta-diversity (Bray–Curtis metric), differences in genus level abundances, and Psoriasis Area and Severity Index (PASI). Skin microbiome samples were collected at baseline, and immediately after treatment. Based on the visual examination of the employed alpha- and beta-diversity measures, no systematic difference based on sampling timepoint or sample location could be revealed in these regards. Balneotherapy in the unaffected area significantly increased the level of Leptolyngbya genus, and significantly decreased the level of Flavobacterium genus. A similar trend was revealed by the results of the psoriasis samples, but the differences were not statistically significant. In patients with mild psoriasis, a significant improvement was observed in PASI scores. LA - English DB - MTMT ER -