Advisory activity of a doctor of general practitioner-family medicine: prognosis of chronic dermatosis under genotyping data and related problems of a comorbidity


  • L. V. Cherkashyna Kharkiv Medical Academy of Postgraduate Education of the Ministry of Health of Ukraine, Kharkiv, Ukraine,



general practitioner-family medicine doctor, chronic dermatosis, dysplastic-dependent pathology, genotype, genes, primary health care level


Baskground. The role of the genetic predisposition of dysplastic-dependent pathology, in particular the predominant skin lesions in the form of chronic dermatosis, can not be considered to be studied. At the same time, it is extremely important to predict the occurrence and severity of the course of chronic dermatosis in the advisory activity of the general practitioner-family medicine doctor. The purpose of the study was to develop a counseling algorithm for assessing the genetically determined systemic damage of connective tissue in chronic dermatoses based on the study of diagnostic value and the predictive value of single nucleotide polymorphism of genes: SPINK-5, VDR, LCT and FDPS. Materials and methods. 48 patients with chronic dermatosis and 96 control group patients were examined, which used the data to determine the genotypes of VDR, LCT and FDPS. The determination of genotypes SPINK-5 was performed among 48 patients and 32 patients in the control group. The obtained data was used to create an advisory / screening algorithm for assessing the genetic predisposition of systemic connective tissue damage in chronic dermatosis and comorbid states. Results. The frequency was studied and prognostic coefficients were determined for various variants of single-nucleotide polymorphism SPINK-5, VDR, LCT and FDPS among patients with chronic dermatosis. The predictive value of individual variants of polymorphism was determined and the most prognostically unfavorable ones were found to be: the presence of homozygous variants of the VR gene of the VDR gene, the SS - gene of the LCT, the SS - gene of FDPS and the AA - of the gene SPINK - 5. An advisory (screening) algorithm for assessing the genetic predisposition of systemic connective tissue damage in chronic dermatosis has been worked out, the use of which can be initiated by the physician in the case of clinical manifestations, for example, lactase insufficiency. Conclusions. In order to provide counseling assistance to families and patients with chronic dermatoses at the primary level of medical care, substantiated industry newsletters, the use of which in practice eliminates the methodological uncertainty in the activities of the doctor GP-FM, improves the tools of interaction and intercourse with the higher levels of assistance, improving the formation process medical routes for such patients.


Довідник кваліфікаційних характеристик професій працівників: Вип.78 «Охорона здоров’я» // МОЗ України, Мін. праці та соціальної політики України. – Київ, 2002. 372 с.

Освітньо-кваліфікаційна характеристика спеціаліста за спеціальністю 7.110101 – «Лікувальна справа» напрямку підготовки 1101 – «медицина» (кваліфікації 2221.2 - лікар) / Галузевий стандарт вищої освіти. Офіційне видання. – Київ, 2003. – С.22-49.

Мавров І.І., Шкляр С.П., Савенкова В.В., Черкашина Л.В. Поширеність системних захворювань сполучної тканини (з переважним ураженням шкіри) у Харківському регіоні залежно від факторів довкілля // Дерматологія та венерологія. – 2009. №1. – С.3-18.

Richards J.B. Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture / J.B. Richards, F.K. Kavvoura, F. Rivadeneira [et al.] // Ann. Intern. Med. – 2009. - Vol. 151. – P. 528-537.

Holick M.F. Evaluation, treatment, andpreventionofvitamin D deficiency: anedrocrinesocietyclinicalpractice / M.F. Holick, N.C. Binkley, H.A. Bischoff­-Ferrari et al. // Journal of Clinical Endocrinology and Metabolism. – 2011. - Vol. 96. - S. 7. - P. 191-­193.

Yang M.Anti-inflammatory effect of 1,25-dihydroxyvitamin D3 is associated with crosstalk between signal transducer and activator of transcription 5 and the vitamin D receptor in human monocytes / M. Yang, B.O. Yang, H. Gan [et al.] // Experimental andtherapeuticmedicine. - 2015. -Vol. 9. - S.5. - P.1739-1744.

Uitterlinden A.G. The association between common vitamin D receptor gene variations and osteoporosis: a participant­level meta­analysis / A.G. Uitterlinden // Ann. Intern. Med. - 2006. - Vol. 145. - P. 255-­264.

Zhao Y. VDR gene polymorphisms are associated with the clinical response to calcipotriol in psoriatic patients / Y. Zhao, X.Chen, J.Li, Y.He, J.Su, M.Chen, W.Zhang, W.Chen, W.Zhu // Journalof dermatologicalscience. - 2015. -Vol. 79. - S.3. - P. 305-307.

Yamanaka M. Association of oestrogen receptor gene polymorphism with the long-term results of rotational acetabular osteotomy // Int. Orthop. - 2009. - Vol. 33. - 4. - P.1155-1164.

Marozik P. Association Between Polymorphisms of VDR, COL1A1, and LCT genes and bone mineral density in Belarusian women with severe osteoporosis // Medicina (Kaunas). - 2013. - Vol. 49. - P. 177-184.

Pohl D. Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom assessment / D. Pohl, E. Savarino, M. Hersberger et al. // Br. J. Nutr. - 2010. - Vol. 104. - P. 900-907.

Yilmaz H. Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI // J. Orthop. Res. - 2012. Vol. 30. P. 1459-1463

Nissen N. No association between hip geometry and four common polymorphisms associated with fracture: The Danish Osteoporosis Prevention Study // Calcif. Tissue International. - 2009. - Vol. 84. - P. 276-285.

Uthup T.K. Impact of an intragenic retrotransposon on the structural integrity and evolution of a major isoprenoid biosynthesis pathway gene in Hevea brasiliensis // Plant. Physiol. Biochem. - 2013. -Vol. 73. - P. 176-188.

Kabesch M, Carr D, Weiland SK, von Mutius E. Assotiation between polymorphism in serine protease inhibitor, kauzal type 5 //Clin Exper Allergy. - 2004. - Vol.34. - P.340-345.