Genetic association study of ABCB1 gene polymorphisms with hypertension in Han Chinese population

OBJECTIVE: Hypertension is a common disorder related to cardiovascular diseases and stroke. Identification of genetic variations related to hypertension may advance our knowledge of the molecular mechanism underlying blood pressure regulation. Here, we aimed to investigate the associations between ABCB1 gene polymorphisms and hypertension-related traits in 1154 Han Chinese subjects. PATIENTS AND METHODS: A total of 13 SNPs in ABCB1 were genotyped. RESULTS: Three SNPs were significantly associated with systolic blood pressure (SBP), including rs17327624 (p = 6.167 x 10(-4), beta = 5.650), rs3789243 (p = 4.331 x 10(-3), beta = 2.800), and rs4148734 (p = 3.514 x 10(-3), beta = 3.692). Rs17327624 (p = 2.818 x 10(-4), beta = 2.753) and rs3789243 (p = 6.345 x 10(-3), beta = 1.497) were significantly associated with diastolic blood pressure (DBP) and rs17327624 was significantly associated with hypertension (p = 1.746 x 10(-4), OR = 1.605). These three SNPs (rs17327624, rs3789243 and rs4148734) were also associated with hypertension in female subjects but no significant signal was detected in males. CONCLUSIONS: Our results suggest that ABCB1 polymorphisms may contribute to the blood pressure variation in Han Chinese population and the effect may be specific in females. Further studies performed in other populations are needed to confirm our findings and elucidate the underlying molecular mechanism.