title: Angiotensin-converting enzyme (rs4646994) and α ADDUCIN (rs4961) gene polymorphisms' study in primary spontaneous intracerebral hemorrhage.
abstract: BACKGROUND
  Primary spontaneous intracerebral hemorrhage (PSICH) is common in Asia and may have a genetic basis.
  
  
  OBJECTIVE
  To report the role of angiotensin-converting enzyme (ACE) and a ADDUCIN (ADD1) gene polymorphisms in patients with PSICH.
  
  
  METHODS
  Tertiary care teaching referral hospital.
  
  
  METHODS
  Study subjects included 104 patients with PSICH diagnosed by computed tomography (CT) brain scan and 198 controls. The vascular risk factors of stroke were noted. The location and size of the hematoma on CT scan were recorded. ACE (rs4646994) and a ADDUCIN (rs4961) gene polymorphisms were analyzed by polymerase chain reaction (PCR). The genotype and allele frequency were compared between patients and controls and within the PSICH group.
  
  
  RESULTS
  The median age of the PSICH group was 58 years, 17 (16.3%) patients were aged above 70 years and 40 (38%) were females. Ninety-three (91.2%) patients were hypertensive and 17 (16.5%) were diabetic. Hematoma was putaminal in 88 (84.5%), pontine in 5 (4.9%), cerebellar in 2 (1.9%), lobar in seven (6.8%) and multiple and primary intraventricular in one (1%) patient each. In the patients with PSICH, ACE DD genotype was present in 44 (42.8%) and ID in 40 (38.4%) whereas in controls these were 22 (11.1%) and 103 (52%) respectively. ADD1- WW genotype was found in two patients (1.9%), and GW in 44 patients (42.7%). In the controls these were found in nine (4.5%) and 65 (32.8%) respectively. DD genotype had 7.4 times higher risk of PSICH. ADD1 variant genotypes were not associated with increased risk but in association with ACE DD genotype resulted in significantly higher risk of PSICH. ACE and ADD1 variant genotypes were associated with nonlobar hematoma.
  
  
  CONCLUSIONS
  ACE DD genotype in isolation or in combination with ADD1 GW genotype is associated with PSICH, especially nonlobar hematoma.
authors.affiliation: Department of Neurology, Sanjay Gandhi Post Graduate Medical Sciences, Lucknow, India. jkalita@sgpgi.ac.in
authors.forename: J
authors.initials: J
authors.lastname: Kalita
authors.forename: U K
authors.initials: UK
authors.lastname: Misra
authors.forename: I S
authors.initials: IS
authors.lastname: Bindu
authors.forename: B
authors.initials: B
authors.lastname: Kumar
authors.forename: B
authors.initials: B
authors.lastname: Mittal
mesh_terms: D000368:Aged; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D002543:Cerebral Hemorrhage / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D055106:Genome-Wide Association Study; D005838:Genotype; D015600:Glasgow Coma Scale; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D012083:Renin / Q000235:genetics*; D012737:Sex Factors; D018709:Statistics, Nonparametric; D014057:Tomography, X-Ray Computed / Q000379:methods; D000099291:Adducins
chemical_list: D002148:Calmodulin-Binding Proteins; D012083:Renin; D000099291:Adducins