Identification of a mutation in the polycystin 1 gene in a patient with intracranial aneurysm

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.05.79-80 ◽

2020 ◽

pp. 79-80

Author(s):

Р.И. Султанова ◽

Э.К. Хуснутдинова ◽

Р.И. Хусаинова

Keyword(s):

Subarachnoid Hemorrhage ◽

Nucleotide Sequence ◽

Connective Tissue ◽

Intracranial Aneurysm ◽

Connective Tissue Disease ◽

Sequence Change ◽

Pkd1 Gene ◽

Subarachnoid Hemorrhages

Интракраниальная аневризма - заболевание соединительной ткани многофакторной природы, приводящее к спонтанным субарахноидальным кровоизлияниям. Обнаружено ранее неописанное изменение нуклеотидной последовательности гена PKD1 в гетерозиготном состоянии c.6847G>A с патогенной значимостью у пациентки с субарахноидальным кровоизлиянием. Intracranial aneurysm is a multifactorial connective tissue disease leading to spontaneous subarachnoid hemorrhages. It was identified undescribed heterozygous nucleotide sequence change of the PKD1 gene c.6847G>A in patient with subarachnoid hemorrhage with pathogenic significance.

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Association of vascular endothelial growth factor B (VEGFВ) gene polymorphisms with intracranial aneurysms

Vavilov Journal of Genetics and Breeding ◽

10.18699/vj18.442 ◽

2019 ◽

Vol 22 (8) ◽

pp. 992-999

Author(s):

R. I. Sultanova ◽

R. I. Khusainova ◽

E. R. Lebedeva ◽

M. A. Yankina ◽

D. V. Gilev ◽

...

Keyword(s):

Subarachnoid Hemorrhage ◽

Connective Tissue ◽

Intracranial Aneurysm ◽

Arterial Hypertension ◽

Ural Region ◽

Increased Risk ◽

Symptom Complex ◽

Connective Tissue Dysplasia ◽

Polymorphic Variants ◽

Volga Ural Region

Intracranial aneurysm (IA) is a complex disease resulting in subarachnoid hemorrhage (SAH) due to a rupture. The average worldwide prevalence of this disease is about 2–5 %, with 50 % of them ending in death or neurological disorders of varying severity, with a high probability of recurrence of hemorrhage during the frst half of the year after rupture. Subarachnoid hemorrhage is annually registered in at least 18 thousand people in Russia. Associations of polymorphic variantsrs594942andrs11603042of theVEGFBgene in intracranial aneurysm development in the Volga-Ural region of the Russian Federation with the presence of the symptom complex of undiﬀerentiated connective tissue dysplasia (uDST) and arterial hypertension (AH) were investigated. TheC* allelers594942andrs11603042of theVEGFBgene is a marker of an increased risk of IA as a whole (p= 0.025; χ2 = 5.052; OR = 1.32) in women as a whole (p= 0.001; χ2 = 10.124; OR = 1.70) and in comorbid state with uDCT (p= 0.002; χ2 = 9.501; OR = 2.34) and AG (p= 0.006; χ2 = 7.385; OR = 2.109). We found that the genotype *C*Cof locusrs594942of theVEGFBgene is a marker of an increased risk of intracranial aneurysm in general (p= 0.017; χ2 = 5.702; OR = 1.49) and among women in general (p= 0.0005; χ2 = 12.078; OR = 2.25) and with the symptomatic complex uCTD (p= 0.007; χ2 = 7.173; OR = 2.67) and AH (p= 0.010; χ2 = 6.471; OR = 2.51). We have obtained new results on the role of polymorphic variants of theVEGFBgene in the formation of intracranial aneurysm, taking into account the presence of the symptom complex uDCT and AH among the residents of the Volga-Ural region of Russia. A burdened comorbid background and the presence of undiﬀerentiated connective tissue dysplasia and arterial hypertension can contribute to an increased risk of intracranial aneurysm, as evidenced by the results of our study.

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