Genetic variations in MOV10 and CACNB2 are associated with hypertension in a Chinese Han population

Abstract

ABSTRACT. Human hypertension is a complex, multifactorial disease. Multiple variants associated with hypertension have been identified in the large numbers of genome-wide association studies, meta-analysis, and case-control studies. The present study investigated the association between the single nucleotide polymorphisms (SNPs) of five candidate genes and the susceptibility and prognosis of hypertension in a Chinese Han population. A hospital-based case-control study in a Chinese Han population was carried out, including 500 hypertension patients and 506 healthy controls. The five SNP markers were detected using the Sequenom MassArray ® iPLEX System. The association of genotypes with susceptibility to hypertension was analyzed using odds Association of genetic polymorphisms and hypertension ratio, with 95% confidence interval and logistic regression. All five variants conformed to Hardy-Weinberg proportions in the controls. No significant differences were noted in the genotype distributions for AGTR1, PRRC2A, and CALCA polymorphisms in patients with hypertension (N = 500) and healthy controls (N = 506). SNP rs2932538, a variant in MOV10, was found to be significantly associated with an increased risk of hypertension. However, SNP rs4373814, a variant in CACNB2, showed a relevant association with a decreased risk of hypertension. In conclusion, the results of our case-control study confirmed the significant association of the SNP rs2932538 in MOV10 and SNP rs4373814 in CACNB2 with an increased risk of hypertension in a Chinese Han population, suggesting that the SNP rs2932538 may be a poor prognostic indicator for hypertension, while SNP rs4373814 may be a good prognostic indicator for hypertension in the same region. However, our findings need to be replicated in larger epidemiological and functional studies.

Association between gene polymorphisms of voltage-dependent Ca2+ channels and hypertension in the Dai people of China: a case-control study

“…Although the association analyses in the Chinese Han population [14,15] and other countries [16,17] suggested that the CACNA1A (rs8182538), CACNA1C (rs758116) and the CACNB2 (rs4373814, rs11014166, rs12258967) polymorphisms were associated with blood pressure and hypertension (no reports about CACNA1S polymorphisms), these SNPs were not consistent with our pre-experimental results (200 cases vs 200 controls, unpublished results). Therefore, based on the haplotype analysis results of the Beijing Han (Chinese Han in Beijing (CHB), HapMap) [18], we chose another 17 SNPs in the genes (CACNA1A, CACNA1C, CACNA1S, CACNB2) that encode the proteins of VDCCs to perform genotyping in the Dai population.…”

“…Association analyses in China [14], Lithuanian [17] and Europe [16] have reported the association between CACNB2 polymorphisms (rs4373814 in Chinese Han, rs12258967 in Lithuanian and rs18748804 in Europe) and hypertension. In our study, we found three other positive SNPs (rs17539088, G minor , OR Dominant = 0.732 CI95% Dominant = 0.554-0.966, OR Additive = 0.769 CI95% Additive = 0.616-0.960; rs16917217, G minor , OR Dominant = 0.737 CI95% Dominant = 0.558-0.973, OR Additive = 0.776 CI95% Additive = 0.622-0.969; and rs61839222, A minor , OR Dominant = 0.737 CI95% Dominant = 0.558-0.973, OR Additive = 0.776 CI95% Additive = 0.622-0.969), which suggest a decreased risk, in CACNB2 after logistic regression analyses.…”

Association between gene polymorphisms of voltage-dependent Ca2+ channels and hypertension in the Dai people of China: a case-control study

“…Although the association analyses in the Chinese Han population [14,15] and other countries [16,17] suggested that the CACNA1A (rs8182538), CACNA1C (rs758116) and the CACNB2 (rs4373814,…”

Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension

“…Despite these advancements, genetic variation identified so far only explains ~3–6% of the variance for blood pressure, approximately 1 mmHg per allele systolic blood pressure or 0.5 mmHg per allele diastolic blood pressure [ 8 – 12 ]. Further, the vast majority of GWASs were performed predominantly in Caucasian populations with only a few studies assessing or replicating in other populations even though high blood pressure burden risk is ranked number one in Southeast Asia, Central Asia, North Africa, and Middle East [ 13 – 40 ]. This suggests the existence of many more undiscovered SNPs/loci or at the very least SNPs unique to other populations that are not of Caucasian ancestry.…”