Beschreibung:
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<jats:bold>Introduction:</jats:bold>
The global deletion of collectrin encoded by the
<jats:italic>TMEM27</jats:italic>
gene leads to endothelial dysfunction, salt sensitivity and hypertension. To translate experimental findings to population studies, we studied the association of single nucleotide polymorphisms (SNPs) with blood pressure (BP) traits.
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<jats:bold>Methods:</jats:bold>
We examined the SNP associations within
<jats:italic>TMEM27</jats:italic>
with BP traits in 11,926 Hispanics/Latinos. BP was measured during a clinic visit and two measures were averaged. Genotypes were imputed from 1000 Genomes Project (1000G). Analyses were stratified by sex, given
<jats:italic>TMEM27</jats:italic>
is located on the chromosome X. We used linear or logistic mixed models for association analyses with systolic and diastolic BP, or hypertension, respectively, in models adjusted for age, body mass index, relatedness and population stratification.
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<jats:bold>Results:</jats:bold>
The mean age was 46 years-old (standard deviation 14), 41% were men, 28% had hypertension (BP> 140/90 mm Hg). Two intronic SNPs were associated with BP traits in men but not women, when adjusting for multiple testing (Table). SNP rs5936004 associated with lower diastolic BP is more common in Admixed Americans in the 1000G samples (minor allele frequency [MAF] 0.15), and low frequency in European and African ancestry (0.02 and 0.04). SNP rs183583165 is more common in 1000G African sample (MAF 0.03) but rare in other populations. These SNPs were not in linkage disequilibrium with SNPs in the nearby
<jats:italic>ACE2</jats:italic>
gene, which has a role in BP control.
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<jats:bold>Conclusion:</jats:bold>
This study identified associations of
<jats:italic>TMEM27</jats:italic>
SNPs with BP traits in Hispanic/Latino men but not women, for variants present in higher frequency in Amerindian and African ancestries.
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