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182 0 _ab
200 1 _aGenetic polymorphisms of PIP5K2A and course of schizophrenia
_fE. Poltavskaya, O. Yu. Fedorenko, N. M. Vyalova [et al.]
203 _aText
_celectronic
300 _aTitle screen
320 _a[References: 44 tit.]
330 _aBackground: Schizophrenia is a severe highly heritable mental disorder. The clinical heterogeneity of schizophrenia is expressed in the difference in the leading symptoms and course of the disease. Identifying the genetic variants that affect clinical heterogeneity may ultimately reveal the genetic basis of the features of schizophrenia and suggest novel treatment targets. PIP5K2A (Phosphatidylinositol-4-Phosphate 5-Kinase Type II Alpha) has been investigated as a potential susceptibility gene for schizophrenia. Methods: In this work, we studied the possible association between eleven polymorphic variants of PIP5K2A and the clinical features of schizophrenia in a population of 384 white Siberian patients with schizophrenia. Genotyping was carried out on QuantStudio 5 Real-Time PCR System with a TaqMan Validate SNP Genotyping Assay (Applied Biosystems, USA). Results: PIP5K2A rs8341 ([chi] 2 = 6.559, p = 0.038) and rs946961 ([chi] 2 = 5.976, p = 0.049) showed significant association with course of schizophrenia (continuous or episodic). The rs8341*CT (OR = 1.63, 95% CI: 1.04-2.54) and rs946961*CC (OR = 5.17, 95% CI: 1.20-22.21) genotypes were associated with a continuous type of course, while the rs8341*TT genotype (OR = 0.53, 95% CI: 0.29-0.97) was associated with an episodic type of course of schizophrenia. Therefore rs8341*TT genotype presumably has protective effect against the more severe continuous course of schizophrenia compared to the episodic one. Conclusions: Our experimental data confirm that PIP5K2A is a genetic factor influencing the type of course of schizophrenia in Siberian population. Disturbances in the phosphatidylinositol pathways may be a possible reason for the transition to a more severe continuous course of schizophrenia.
461 _tBMC Medical Genetics
463 _tVol. 21
_v[171, 9 p.]
_d2020
610 1 _aэлектронный ресурс
610 1 _aтруды учёных ТПУ
610 1 _aschizophrenia
610 1 _aPIPK2A
610 1 _aGenetic polymorphism
610 1 _aType of course
610 1 _aLeading symptoms
610 1 _aсимптомы
610 1 _aполиморфизм
610 1 _aшизофрения
610 1 _aпсихическое состояние
701 1 _aPoltavskaya
_bE.
_gEvgeniya
701 1 _aFedorenko
_bO. Yu.
_cspecialist in the field of ecology and life safety
_cProfessor of Tomsk Polytechnic University, doctor of medical sciences
_f1973-
_gOlga Yurievna
_2stltpush
_3(RuTPU)RU\TPU\pers\33861
701 1 _aVyalova
_bN. M.
_gNataljya Mikhaylovna
701 1 _aKornetova
_bE. G.
_gElena Georgievna
701 1 _aBokhan
_bN. A.
_gNikolay Aleksandrovich
701 1 _aLoonen
_bA. J. M
_gAnton
701 1 _aIvanova
_bS. A.
_cspecialist in the field of ecology and life safety
_cProfessor of Tomsk Polytechnic University, doctor of medical sciences
_f1964-
_gSvetlana Aleksandrovna
_2stltpush
_3(RuTPU)RU\TPU\pers\33859
712 0 2 _aНациональный исследовательский Томский политехнический университет
_bШкола базовой инженерной подготовки
_bОтделение общетехнических дисциплин
_h8035
_2stltpush
_3(RuTPU)RU\TPU\col\23550
712 0 2 _aНациональный исследовательский Томский политехнический университет
_bИнженерная школа неразрушающего контроля и безопасности
_bОтделение контроля и диагностики
_h7978
_2stltpush
_3(RuTPU)RU\TPU\col\23584
801 2 _aRU
_b63413507
_c20210831
_gRCR
856 4 _uhttps://doi.org/10.1186/s12881-020-01107-w
942 _cCF