title: A promoter polymorphism of lamin A/C gene is an independent genetic predisposition to arterial stiffness in a Japanese general population (the Tanno and Sobetsu study).
abstract: OBJECTIVE
  We examined the hypothesis that there is a positive, independent association between polymorphisms of lamin A/C gene (LMNA) and arterial stiffness in Japanese.
  
  
  METHODS
  The subjects were 261 men (mean age, 64.4+/-0.7 years) selected from inhabitants of the towns of Tanno and Sobetsu in a rural area of Japan who underwent medical check-ups. We conducted clinical examinations, including measurement of bilateral brachial-ankle pulse wave velocity (baPWV) as a marker of arterial stiffness, and genetic analysis. Subjects with atrial fibrillation, subjects with ankle-brachial index <0.9, and subjects taking any medication were excluded. We selected two single nucleotide polymorphisms (SNPs) as markers of LMNA, 1908C/T in exon 10 and -1030C/T in the promoter region, which we have recently identified. All genotypes were clearly determined by the TaqMan PCR method.
  
  
  RESULTS
  Genotype frequencies of the two polymorphisms satisfied the Hardy-Weinberg equilibrium. The baPWV of -1030C/T polymorphism was significantly greater in subjects with CC genotype than in subjects with CT+TT genotype (1,652+/-22.1 cm/s vs. 1,552+/-43.0 cm/s, p=0.039); however, no significant difference was found for 1908C/T polymorphism. The baPWV was found to be significantly associated with age, body height, systolic blood pressure, and smoking habit; therefore, we next performed multiple regression analysis including these parameters, and found an independent, significant association between baPWV and -1030C/T polymorphism.
  
  
  CONCLUSIONS
  Promoter -1030C/T polymorphism of LMNA is a possible genetic predisposition to arterial stiffness in the Japanese population.
authors: Second Department of Internal Medicine, Sapporo Medical University School of Medicine, Hokkaido, Japan. akasaka@sapmed.ac.jp
authors: Hiroshi
authors: H
authors: Akasaka
authors: Tomohiro
authors: T
authors: Katsuya
authors: Shigeyuki
authors: S
authors: Saitoh
authors: Ken
authors: K
authors: Sugimoto
authors: Hirofumi
authors: H
authors: Ohnishi
authors: Ada
authors: A
authors: Congrains
authors: Miyuki
authors: M
authors: Ohnishi
authors: Mitsuru
authors: M
authors: Ohishi
authors: Hiromi
authors: H
authors: Rakugi
authors: Toshio
authors: T
authors: Ogihara
authors: Kazuaki
authors: K
authors: Shimamoto
mesh_terms: D000368:Aged; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007564:Japan / Q000453:epidemiology; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012044:Regression Analysis; D014655:Vascular Resistance / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C494847:LMNA protein, human; D034904:Lamin Type A