Replicated association between genetic variation in the PARK2 gene and blood pressure

• Published in: Clinica chimica acta Vol. 412; no. 17-18; pp. 1673 - 1677
• Main Authors: Jin, Hyun-Seok, Hong, Kyung-Won, Kim, Bo-Young, Kim, Jeonghyun, Yoo, Young Hyun, Oh, Bermseok, Jeong, Seon-Yong
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 17.08.2011
• Subjects: Adult; Association; Blood pressure; Blood Pressure - genetics; Case-Control Studies; Cohort Studies; Female; Genetic Variation; Humans; Male; Middle Aged; Mitochondrial fusion/fission; Mitophagy; Nigeria; PARK2; Polymorphism, Single Nucleotide; Republic of Korea; Single nucleotide polymorphism; Ubiquitin-Protein Ligases - genetics; Blood pressure; Mitochondrial fusion/fission; Association; Single nucleotide polymorphism; Mitophagy; PARK2
• ISSN: 0009-8981; 1873-3492
• DOI: 10.1016/j.cca.2011.05.026

The PARK2 gene encodes Parkin which is linked to the mitochondrial fusion, fission and mitophagy. In the previous study, single nucleotide polymorphisms (SNPs) in the PARK2 gene have been reported to be associated with blood pressure (BP) in Nigerian families. We aimed to confirm whether the genetic variation of the PARK2 gene influenced the susceptibility to BP and hypertension in Korean population. We performed the quantitative BP trait analysis and hypertension case–control analysis for the 227 SNPs in the PARK2 gene in the Korean Association Resource (KARE) cohort (8512 subjects) and the Korean Urban Epidemiology (KUE) cohort (3703 subjects) by the independent association analysis and meta-analysis. Two SNPs, rs9456721 and rs6902041, were significantly associated with systolic BP (SBP) and diastolic BP (DBP), respectively, in the KARE subjects, and their association p-values were below the Bonferroni-corrected significance level. The replication analysis in the KUE subjects revealed a significant association between the SNP, rs6902041 and BP. These results indicate that genetic variation in the PARK2 gene is significantly associated with BP not only in the Nigerian population but also in the Korean population. This study may provide insight into the genetic basis of hypertension related to the mitochondrial quality control.