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Association of ATP1B1, RGS5 and SELE polymorphisms with hypertension and blood pressure in African–Americans

Faruque, Mezbah U.a; Chen, Guanjieb; Doumatey, Ayob; Huang, Hanxiab; Zhou, Jieb; Dunston, Georgia M.a; Rotimi, Charles N.b; Adeyemo, Adebowale A.b

doi: 10.1097/HJH.0b013e32834b000d
Original papers: Genetic aspects

Objective Although an increasing number of hypertension-associated genetic variants is being reported, replication of these findings in independent studies has been challenging. Several genes in a human chromosome 1q linkage region have been reported to be associated with hypertension. We examined polymorphisms in three of these genes (ATP1B1, RGS5 and SELE) in relation to hypertension and blood pressure in a cohort of African–Americans.

Methods We genotyped 87 single nucleotide polymorphisms (SNPs) from the ATP1B1, RGS5 and SELE genes in a well characterized cohort of 968 African–Americans and performed a case–control study to identify susceptibility alleles for hypertension and blood pressure regulation. Single SNP and haplotype association testing was done under an additive genetic model with adjustment for age, sex, BMI and ancestry-by-genotype (principal components).

Results A total of 12 SNPs showed nominal association with hypertension and/or blood pressure. The strongest signal for hypertension was for rs2815272 in the RGS5 gene (P = 9.3 × 10−3). For SBP, rs3917420 in the SELE gene (P = 9.0 × 10−4) and rs4657251 in the RGS5 gene (P = 9.7 × 10−3) were the top hits. Effect size for each of these variants was approximately 2–3 mmHg. A five-SNP haplotype in the SELE gene also showed significant association with SBP after correction for multiple testing (P < 0.01).

Conclusion These findings provide additional support for the genetic role of ATP1B1, RGS5 and SELE in hypertension and blood pressure regulation.

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aNational Human Genome Center, Howard University College of Medicine, Washington, District of Columbia

bCenter for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA

Correspondence to Adebowale A. Adeyemo, MD, Center for Research on Genomics and Global Health, National Institutes of Health, Building 12A, Room 4047, 12 South Drive, MSC 5635, Bethesda, MD 20892-5635, USATel: +1 301 594 7501; fax: +1 301 451 5426; e-mail:

Abbreviations: ATP1B1, ATPase, Na+/K+ transporting, beta 1 polypeptide (gene); DBP, diastolic blood pressure; RGS5, regulator of G-protein signaling 5 (gene); SBP, systolic blood pressure; SELE, selectin E (gene); SNP, single nucleotide polymorphism

This work was previously presented at the 60th Annual Meeting of the American Society of Human Genetics, 2010 and at the 12th RCMI International Symposium on Health Disparities, 2010.

Received 25 February, 2011

Revised 21 June, 2011

Accepted 15 July, 2011

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© 2011 Lippincott Williams & Wilkins, Inc.