关键词: 骨形态发生蛋白-7, 基因多态性, 高血压, 新疆维吾尔族

Abstract: Objective To analyze the association between the genetic variations of functional region in Bone Morphogenetic Protein (BMP7)gene and hypertension in Chinese Uygur individuals. Methods The all exons, segmental introns and the promoter regions of BMP7 gene were sequenced in 48 Uygur Chinese. Representative variations were selected according to the minor allele frequency (MAF) and linkage disequilibrium and genotyped using the TaqMan polymerase chain reaction method in 1446 Uygur Chinese and a case-control study was conducted to test the association between genetic variations of BMP7 gene and hypertension Results 5 novel and 8 known variations in the BMP7 gene were identified. All genotype distributions were tested for deviations from Hardy-Weinberg equilibrium (P>0.05). There were significant differences of genotype distribution of rs17480735 between hypertension and control groups(P<0.05)．And the means of blood pressure in individuals with GA + AA were significantly higher than in individuals with GG genotypes of rs17480735 in population with age ≥50 years (P<0.05). The logistic regression analysis showed that AA genotype of rs17480735 variation might be a hypertensive risk factor in individuals with age ≥50years (P<0.05) after affect factors(age, gender, BMI, drinking and smoking) were adjusted. Conclusions The present study suggests rs17480735 polymorphism in the BMP7 gene may be associated with Hypertension in Uygur individuals with age ≥50 years .

Key words: Bone Morphogenetic Protein 7 gene, polymorphism, Hypertension, Uygur