000 | 04322nlm1a2200505 4500 | ||
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001 | 665201 | ||
005 | 20231030041955.0 | ||
035 | _a(RuTPU)RU\TPU\network\36400 | ||
035 | _aRU\TPU\network\35895 | ||
090 | _a665201 | ||
100 | _a20210830a2019 k y0engy50 ba | ||
101 | 0 | _aeng | |
135 | _adrcn ---uucaa | ||
181 | 0 | _ai | |
182 | 0 | _ab | |
200 | 1 |
_aGenetic polymorphisms of PIP5K2A and course of schizophrenia _fE. Poltavskaya, O. Yu. Fedorenko, N. M. Vyalova [et al.] |
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203 |
_aText _celectronic |
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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 |