TaqI polymorphism of VDR gene in colorectal cancer and Crohn’s disease patients M.R. Lozynska, L.Y. Lozynska, R.O. Pinyazhko, I.E. Gaybonyuk, O.R. Pinyazhko, et al. Fiziologichnyi Zhurnal, 2024 To study the relation of TaqI polymorphism of VDR gene with age, sex and the disease phenotype in patients with colorectal cancer (CRC) and Crohn’s disease (CD) from western regions of Ukraine. Fifty six patients with CRC, 46 patients with CD and 65 control individuals were included in this research. Assessment of TaqI polymorphism was performed using PCR-RFLP method. The genotype-phenotype association for this polymorphism was analyzed. The frequency of tt genotype in patients with CRC is 0.107 and among the control group is 0.138, OR (95% CI 0.248-2.246). The ratio of genotypes TT:Tt:tt in patients with CRC and in control was 37.5%:51.8%:10.7% and 44.6%:41.6%:13.8%. In men with Tt genotype the average age of CRC onset was 57.6 ± 3.6 years, in women with TT genotypethe mean age of the disease onset was 54.5 ± 4.5 years. The frequency of tt genotype in the patients with CD is 0.217 and among the control group is 0.138, OR (95% CI 0.640–4.666). The Tt genotype was detected in a half of patients with CD and TT genotype was found more frequently in control.The ratio of genotypes in men and women with CD was 38.0%:38.0%:24.0% and 20.0%:60.0%:20.0%. Among patients with CD, who underwent surgery, 33.3% individuals were carriers of tt genotype. It was confirmed no statistically significant difference in the allele frequencies and genotype distributions of Taq1 mutation in patients with CRC and CD in comparison to control group. The ratio of men and women with Tt genotype by groups of B1-B3 forms of CD behaviour according to the Montreal classification is differs, in particular, women with Tt genotype are four times more likely to have the B1 form. A study of Taq1 mutation might contribute to the identification of the groups that are at the greatest risk of severe form of CD.
NOD2 C.3019-3020INSC AND C.2104C>T GENE VARIANTS AMONG PATIENTS FROM WESTERN UKRAINE WITH CROHN'S DISEASE AND COLORECTAL CANCER L. Lozynska, R. Pinyazhko, M. Lozynska, A. Plawski, H. Makukh, et al. Experimental Oncology, 2022 Aim: To determine the frequency of NOD2 gene c.3019-3020insC (rs5743293) and c.2104C>T (rs2066844) allelic variants in the patients with Crohn’s disease (CD), colorectal cancer (CRC) and in the control groups and to study the association of these mutations with the onset time of the diseases, gender and surgical interventions. Materials and Methods: The diagnoses of CD and CRC were established based on standard clinical examination and laboratory tests. Molecular genetic study of a frameshift 3020insC mutations of NOD2 gene were performed in 54 patients with CD; missense R702W mutations of the NOD2 gene — in 41 CD patients and 38 healthy controls. In CRC group, 3020insC mutation was tested in 48 patients, R702W mutation — in 40 patients and 40 healthy controls. PCR-RFLP technique was used to identify the mutations. Results: The frequency of the minor allele (M) of 3020insC mutation of NOD2 gene in the patients with CD was significantly higher than in the control group (р = 0.01). The age at CD onset in females carrying 3020insC mutation was significantly lower (22.5 ± 1.6 years) when compared with females without the mutation (32.7 ± 2.5 years) (p = 0.002). There was no significant difference in the allele frequencies and genotype distributions of R702W mutation in the patients with CD in comparison with the controls. The mean age at CD onset in the patients carrying R702W mutation was significantly lower (28.4 ± 1.4 years) compared with the patients without the mutation (39.4 ± 2.8 years) (p < 0.01). Surgical interventions for CD was required in 40.0% of 3020insC mutation carriers. Among patients with CRC, only 4.2% carried 3020insC mutation and 20.0% R702W mutation. Our study suggests that R702W and 3020insC mutations are not associated with the risk of CRC in Ukrainian patients. There was no statistically significant difference in mean age at CRC onset in patients with/without R702W mutation. Only one patient with CRC had two mutations. Conclusion: The earlier age at CD onset was associated with 3020insC mutation, but only in female patients. The association between R702W mutation and the earlier age of CD onset was found. Patients with 3020insC mutation showed a trend to a higher frequency of surgical interventions for CD.
Variant of rare Hermansky - Pudlak syndrome associated with granulomatous colitis: Diagnostics, clinical course and treatment L Y Lozynska, A Plawski, M R Lozynska, I Vytvytskyi, R Y Lozynskyi, et al. Experimental Oncology, 2018 Aim: To study the relationship between the genotype and the phenotype in the patients with Hermansky — Pudlak syndrome (HPS) associated with granulomatous colitis; to monitor clinical course of the disease for adequate treatment, cancer surveillance and genetic counseling. Materials and Methods: The diagnosis of HPS is established by physical examination, chest X-ray, computed tomography, endoscopic examination with biopsy, and laboratory tests, including histology, baseline laboratory blood, urine and feces tests, determination of ASCA-C and ANCA antibodies using an ELISA. Molecular genetic testing for HPS gene mutations, R702W, G908R, L1007fs and P268S mutations in NOD2 gene, and TaqI variant of the VDR gene were carried out. Results: We report 2 cases of HPS from unrelated families. Both were complicated by inflammatory bowel disease with pathologic features of Crohn’s disease refractory to antibiotics and corticosteroids. One patient (family 1) with Ashkenazi Jewish ancestry had pathogenic variant of the HPS-4 gene in exon 8, mutation P268S of NOD2 genes and “Tt” genotype of TaqI variant of the VDR gene. Another patient (family 2) carried two mutations P268S and G908R of NOD2 gene, and had a large paraovarian cyst diagnosed. No consistent success with the standard medical therapy, used for treating granulomatous colitis, associated with HPS, in presented cases was achieved. Patients needed surgical interventions at a young age and a long-term surveillance of the probable development of tumors and other complications. Azathioprine at 2 mg/kg/day and mesalazine 3 g/day were used with some positive effect for prevention of Crohn’s disease postoperative recurrence. Conclusion: The occurrence of perianal lesions, the histopathological findings and the results of the molecular genetic analysis confirmed the mutations P268S and G908R of NOD2 gene in these cases suggest that HPS was truly associated with Crohn’s disease variant with early onset and severe course. The search for the molecular causes of the disease in some individuals may help in the development of new therapeutic and surgical approaches, as well in the improvement of understanding of premalignant inflammatory conditions in a large bowel.
RECENT SCHOLAR PUBLICATIONS
TaqI polymorphism of VDR gene in colorectal cancer and Crohn’s disease patients MR Lozynska, LY Lozynska¹, RO Pinyazhko¹, IE Gaybonyuk, ... Physiological Journal/Fiziologichnyi Zhurnal 70 (4) , 2024 2024
NOD2c. 3019-3020insC AND c. 2104C> T GENE VARIANTS AMONG PATIENTS FROM WESTERN UKRAINE WITH CROHN’S DISEASE AND COLORECTAL CANCER L Lozynska, R Pinyazhko, M Lozynska, A Plawski, H Makukh, ... Experimental Oncology 44 (1), 52-59 , 2022 2022 Citations: 2
Diagnosis and tactics of surgical treatment of colorectal cancer that developed during pregnancy IK Vytvytskyi, OO Precel, LY Lozynska, SO Holovchanskyi The Ukrainian Journal of Clinical Surgery 88 (1-2), 99-101 , 2021 2021 Citations: 1
Діагностика і тактика хірургічного лікування колоректального раку, який розвинувся під час вагітності ІК Витвицький, ОО Прецель, ЛЮ Лозинська, СО Головчанський Klinichna khirurhiia 88 (1-2), 99-101 , 2021 2021
Аssociation of coloproctologists of Ukraine. National Recommendations of Association of Coloproctologists of Ukraine for management of patients with hemorrhoids, аdаpted for … МP Zakharash, ОY Usenko, ОІ Poyda, VV Boyko, ТІ Таmm, ММ Мylytsya, ... The Ukrainian Journal of Clinical Surgery 87 (7-8), 89-104 , 2020 2020 Citations: 2
Role of R702w and 3020 insC mutations of NOD2 gene in the onset of Crohns diseases and colorectal cancer in patients from Ukraine MRLLYLAP al. Falk Symposium 214; IBD: From Pathophysiology to personalized Medicine … , 2019 2019
Relation between Taq1 polymorphism of VDR gene and Crohns disease phenotype in Ukrainian patients BT L.Lozynska,M. Lozynska Falk Symposium 214; IBD: From Pathophysiology to personalized Medicine … , 2019 2019
Клінічна характеристика та оперативні втручання з приводу хвороби Крона, в тому числі асоційованої з колоректальним раком LY Lozynska, ОV Lukavetskyi The Ukrainian Journal of Clinical Surgery, 56-58 , 2018 2018
Variant of rare Hermanski-Pudlak syndrome associated with granulomatous colitis: diagnostics, clinical course and treatment et al. L.Y. Lozynska, A. Plawski, M.R. Lozynska Experimental Oncology 40 (№1), 73-78 , 2018 2018 Citations: 8
Лукавецький, О.В. Клінічна характеристика пацієнтів із хворобою Крона, в тому числі асоційованій з колоректальним раком, та спектр операційних втручань ЛЮЛ О.В. Лукавецький Клінічна хірургія. 85 (№1), 56-58 , 2018 2018
Distribution characteristics of colorectal cancer patients for gender and age depending of hereditary predisposition to the disease et al. / M.R. Lozynska, O.M. Fedota, L.Yu. Lozynska Онкология 18 (№2), 104-109 , 2016 2016 Citations: 2
Обтяженість на рак щитоподібної залози пробандів та їх родичів Із новоутвореннями кишечника і хворобою Крона МР Лозинська, ОВ Лукавецький, ЛЮ Лозинська, НР Калинович Acta medica Leopoliensia, 9-12 , 2016 2016
Стат тя на дій шла до ре дак ції 28 березня 2016 р. ЛЮ Лозинська 2016
THE PATTERN OF STK11 GENE MUTATIONS AND ITS PHENOTYPICAL MANIFESTATION IN PATIENTS WITH HAMARTOMAS POLYPOSIS MR Lozynska, A Plawski, IV Khavunka, NM Fomenko, LY Lozynska Біологічні студії/Studia Biologica 8 (1), 45-52 , 2014 2014
Спектр мутацій гена STK11 та їх фенотиповий прояв у пацієнтів зі синдромом Пейтца–Єгерса МР Лозинська, А Плавскі, ІВ Хавунка, НМ Фоменко, ЛЮ Лозинська Біологічні студії, 45-52 , 2014 2014
мОлекулярнО-генетичні маркери ранньОї маніфестації кОлОректальнОгО раку при деяких мОнОгенних ЗахвОрЮваннях киШечника МР Лозинська, А Плавскі, ЛБ Чорна, ЛЮ Лозинська, НВ Маркевич Вісник проблем біології і медицини, 175-178 , 2014 2014
TUMOR NECROSIS FACTOR IN LARGE BOWEL DISEASES P. 36-39 MZ TYMKIV, OP KORNIYCHUK, YS LOZYNSKY, MB PROKOPOVYCH, ... Львівський медичний часопис/Acta Medica Leopoliensia 17 (4) , 2011 2011
Генетичне консультування та прогнозування виникнення ускладнень при деяких синдромах спадкового поліпозу товстої кишки MR Lozynska, OZ Hnateiko, NV Helner, OO Precel, LY Lozynska Likars' ka sprava, 87-91 , 2010 2010
THE ROLE OF THE MICROFLORA IN THE OCCURENCE OF INFLAMMATORY BOWEL DISEASES AND THE ANTIMICROBIAL ACTIVITY OF SALOFALK P. 63-66 YS LOZYNSKY, OP KORNIYCHUK, IV SEPLYVY, LY LOZYNSKA Львівський медичний часопис/Acta Medica Leopoliensia 15 (4) , 2009 2009
MOST CITED SCHOLAR PUBLICATIONS
Variant of rare Hermanski-Pudlak syndrome associated with granulomatous colitis: diagnostics, clinical course and treatment et al. L.Y. Lozynska, A. Plawski, M.R. Lozynska Experimental Oncology 40 (№1), 73-78 , 2018 2018 Citations: 8
NOD2c. 3019-3020insC AND c. 2104C> T GENE VARIANTS AMONG PATIENTS FROM WESTERN UKRAINE WITH CROHN’S DISEASE AND COLORECTAL CANCER L Lozynska, R Pinyazhko, M Lozynska, A Plawski, H Makukh, ... Experimental Oncology 44 (1), 52-59 , 2022 2022 Citations: 2
Аssociation of coloproctologists of Ukraine. National Recommendations of Association of Coloproctologists of Ukraine for management of patients with hemorrhoids, аdаpted for … МP Zakharash, ОY Usenko, ОІ Poyda, VV Boyko, ТІ Таmm, ММ Мylytsya, ... The Ukrainian Journal of Clinical Surgery 87 (7-8), 89-104 , 2020 2020 Citations: 2
Distribution characteristics of colorectal cancer patients for gender and age depending of hereditary predisposition to the disease et al. / M.R. Lozynska, O.M. Fedota, L.Yu. Lozynska Онкология 18 (№2), 104-109 , 2016 2016 Citations: 2
Diagnosis and tactics of surgical treatment of colorectal cancer that developed during pregnancy IK Vytvytskyi, OO Precel, LY Lozynska, SO Holovchanskyi The Ukrainian Journal of Clinical Surgery 88 (1-2), 99-101 , 2021 2021 Citations: 1
TaqI polymorphism of VDR gene in colorectal cancer and Crohn’s disease patients MR Lozynska, LY Lozynska¹, RO Pinyazhko¹, IE Gaybonyuk, ... Physiological Journal/Fiziologichnyi Zhurnal 70 (4) , 2024 2024
Діагностика і тактика хірургічного лікування колоректального раку, який розвинувся під час вагітності ІК Витвицький, ОО Прецель, ЛЮ Лозинська, СО Головчанський Klinichna khirurhiia 88 (1-2), 99-101 , 2021 2021
Role of R702w and 3020 insC mutations of NOD2 gene in the onset of Crohns diseases and colorectal cancer in patients from Ukraine MRLLYLAP al. Falk Symposium 214; IBD: From Pathophysiology to personalized Medicine … , 2019 2019
Relation between Taq1 polymorphism of VDR gene and Crohns disease phenotype in Ukrainian patients BT L.Lozynska,M. Lozynska Falk Symposium 214; IBD: From Pathophysiology to personalized Medicine … , 2019 2019
Клінічна характеристика та оперативні втручання з приводу хвороби Крона, в тому числі асоційованої з колоректальним раком LY Lozynska, ОV Lukavetskyi The Ukrainian Journal of Clinical Surgery, 56-58 , 2018 2018
Лукавецький, О.В. Клінічна характеристика пацієнтів із хворобою Крона, в тому числі асоційованій з колоректальним раком, та спектр операційних втручань ЛЮЛ О.В. Лукавецький Клінічна хірургія. 85 (№1), 56-58 , 2018 2018
Обтяженість на рак щитоподібної залози пробандів та їх родичів Із новоутвореннями кишечника і хворобою Крона МР Лозинська, ОВ Лукавецький, ЛЮ Лозинська, НР Калинович Acta medica Leopoliensia, 9-12 , 2016 2016
Стат тя на дій шла до ре дак ції 28 березня 2016 р. ЛЮ Лозинська 2016
THE PATTERN OF STK11 GENE MUTATIONS AND ITS PHENOTYPICAL MANIFESTATION IN PATIENTS WITH HAMARTOMAS POLYPOSIS MR Lozynska, A Plawski, IV Khavunka, NM Fomenko, LY Lozynska Біологічні студії/Studia Biologica 8 (1), 45-52 , 2014 2014
Спектр мутацій гена STK11 та їх фенотиповий прояв у пацієнтів зі синдромом Пейтца–Єгерса МР Лозинська, А Плавскі, ІВ Хавунка, НМ Фоменко, ЛЮ Лозинська Біологічні студії, 45-52 , 2014 2014
мОлекулярнО-генетичні маркери ранньОї маніфестації кОлОректальнОгО раку при деяких мОнОгенних ЗахвОрЮваннях киШечника МР Лозинська, А Плавскі, ЛБ Чорна, ЛЮ Лозинська, НВ Маркевич Вісник проблем біології і медицини, 175-178 , 2014 2014
TUMOR NECROSIS FACTOR IN LARGE BOWEL DISEASES P. 36-39 MZ TYMKIV, OP KORNIYCHUK, YS LOZYNSKY, MB PROKOPOVYCH, ... Львівський медичний часопис/Acta Medica Leopoliensia 17 (4) , 2011 2011
Генетичне консультування та прогнозування виникнення ускладнень при деяких синдромах спадкового поліпозу товстої кишки MR Lozynska, OZ Hnateiko, NV Helner, OO Precel, LY Lozynska Likars' ka sprava, 87-91 , 2010 2010
THE ROLE OF THE MICROFLORA IN THE OCCURENCE OF INFLAMMATORY BOWEL DISEASES AND THE ANTIMICROBIAL ACTIVITY OF SALOFALK P. 63-66 YS LOZYNSKY, OP KORNIYCHUK, IV SEPLYVY, LY LOZYNSKA Львівський медичний часопис/Acta Medica Leopoliensia 15 (4) , 2009 2009