[Role of the M235T (c.704c>T) polymorphism of angiotensynogen gene as well as A724A (c.2171G>A) polymorphism of SERCA2a gene in ethiopathogenesis of left ventricular hypertrophy in essential hypertension].
Left ventricle hypertrophy (LVH) is main organ complication developing in the course of primary hypertension. Among 'candidates genes' related with development of hypertension as well as LVH; the promoting, but not crucial, influence of (c.704C>T) angiotensinogen (AGT) gene was found. The elevated calcium ions concentration in the cytosol of muscle cells, might be one of the element in the ethiopatomechanism of essential hypertension development. The ATP-related ions pomp--SERCA2A regulates the intracellular calcium concentration. Mutations in the ATP2A2 gene coding the SERCA2A protein, has been associated with elevated calcium level in cardiomyocytes. The aim of the study was to analyze frequency of the M235T (c.704C>T) AGT gene polymorphism. The new mutations in the ATP2A2 gene was searched for in hypertensive patients, independently to the LVH presence in compare to the control group. 157 people participated in the study. Based on the echo-cardiographic examination participants were divided into subgroups: patients with essential hypertension (NT) and patients with NT and LVH. 50 healthy volunteers served as the control group. The frequency of the CC homozygotes, of the M235T (c.704C>T) AGT gene polymorphism, was the highest in the patients with essential hypertension and LVH in compare with patients without LVH (p = 0.67) and control group (p = 0.64). The value of the LVMI was the highest in CC carriers in compare to homozygotes TT (p = 0.33) and CT group (p = 0.66). In homozygotes TT as well as in the carriers of allel T, the elevated blood pressures value was detected. In the exon 15 of ATPA2A gene the new polymorphism A724A (C.2171G>A) was found. only the presence of GG and heterozygotes GA was detected in analyzed group. The frequency of GA genotype was significantly higher in control group vs patients with essential hypertension with (p = 0.05)/or without LVH (p = 0.04). The GA carriers had lower blood pressures values measured in doctor office as well as using ABPM method. The LVM as well as LVMI values were lower in group with mutated genotype GA in compare to GG group (p = 0.107 for LVM; p = 0.154 for LVMI). Results suggest a protective role of the c.2171G>A polymorphism of the ATP2A2 gene against the hypertension as well as LVH development. It seems also that c.704C>T polymorphism of AGT gene does not play crucial role in the essential hypertension development.
Kieć-Wilk
Beata
B
Katedra i Klinika Chorób Metabolicznych, CM UJ, Kraków. mbkiec@gmail.com
Olszanecka
Agnieszka
A
Mikołajczyk
Magdalena
M
Kawecka-Jaszcz
Kalina
K
D000808:Angiotensinogen / Q000235:genetics*; D005260:Female; D006801:Humans; D006973:Hypertension / Q000150:complications*; D017379:Hypertrophy, Left Ventricular / Q000150:complications* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
D000808:Angiotensinogen; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human