Association of genetic variation with blood pressure traits among East Africans

Abstract

Genetic variation may explain some of the disparity in prevalence and control of hypertension across sub-Saharan Africa. Twenty-seven blood pressure (BP) related single nucleotide polymorphisms (SNPs) were genotyped among 2881samples from participants in the MEPI-CVD survey. Associations with known BP variants were evaluated for SBP, DBP and PP as continuous variables and for HTN as a binary variable. Eleven SNPS were associated with at least one BP trait (P<0.05). Four SNPs; rs2004776, rs7726475, rs11837544 and rs2681492 whose nearest genes are AGT, NPR3/SUB1, PLXNC1 and ATP2B1 respectively were associated with SBP. Six SNPs: rs2004776, rs11977526, rs11191548, rs381815, rs2681492 and rs1327235 close to AGT, IGFBP3, CYP17A1, PLEKHA7, ATP2B1 and JAG respectively were associated with DBP while two SNPs located within AGT and IGFBP-3 genes associated with HTN. For PP, four variants rs1458038, rs11725861, rs7726475 and rs11953630 whose corresponding genes are FGF5, CHIC2, SUB1/NPR3 and EBF1 reached significance (P<0.05). Eight SNPs were replicated in the same effect direction as the parent studies. Risk scores defined using published effect sizes were significantly associated with both SBP (P = 0.0026) and DBP (P = 0.0214). The replication of multiple BP variants among East Africans suggests that these variants may have universal effects across ethnic populations.

Evidence for lineage continuity between early serous proliferations (ESPs) in the Fallopian tube and disseminated high‐grade serous carcinomas

“…Sequencing of isolated DNA was performed using the PlexSeq platform (Plexseq Diagnostics, Cleveland, OH, USA) . Primers were designed to amplify regions surrounding each exon of TP53 including 15 base pairs of surrounding introns for identification of splice site alterations.…”

A genome‐wide association and replication study of blood pressure in Ugandan early adolescents

“…Blood pressure GWASs conducted among populations of African origin in the diaspora are rare, and often report different variants associated with BP compared to those reported in non‐African populations (Adeyemo et al, ; Fox et al, ; Franceschini et al, ; Kidambi et al, ; Liang et al, ). Attempts to replicate genetic findings in independent populations have returned mixed results (Kayima et al, ; Kidambi et al, ; Li et al, ; Xi et al, ). The largest African American GWAS of BP included a meta‐analysis of 29,378 individuals, and identified only one (the SOX6 locus) of the five loci that were associated with BP in a multiethnic (African American, European and East Asian) sample of 99,382 individuals (Franceschini et al, ).…”

“…Of the 17 SNPs most strongly associated with BP (p < 1 × 10 −4 ) in African Americans, three SNPS were replicated (p < .05) in a West African sample (Adeyemo et al, 2009). Among Ugandan adults, 11 out of 27 BP related candidate SNPs (selected because of previous association with BP from BP GWASs or admixture mapping analysis) were replicated (p < .05) with eight of the 11 SNPs having the same effect direction as in the discovery sample (Kayima et al, 2017).…”

A comprehensive contribution of genetic variations of the insulin-like growth factor 1 signalling pathway to stroke susceptibility

“…Hak et al suggested that rs6214 and rs2162697 of the IGF1 gene were related with the development of stroke [12]. Genetic studies also reported that variations at IGFBP3 (rs11977526 and rs2949837) were related to the increased blood pressure [43,45].On the other hand, genetic variation at rs6032470 had lower expression levels of IGF1R genes. The IGF1R mRNA increased with the variation G to A of rs2002880.…”