Key result
PHACTR1 rs9349379 AA genotype linked to ~125% higher odds of elevated pulse pressure vs GG.
Why the study?
A previous GWAS in Chinese twins found a suggestive association between the PHACTR1 gene and pulse pressure, prompting further investigation of this relationship in a Chinese population.
Are PHACTR1 gene polymorphisms associated with high pulse pressure in a Chinese Han population?
Case-Control (n=706)
Are PHACTR1 gene polymorphisms associated with high pulse pressure in a Chinese Han population?
Odds Ratio: 2.255 (95% CI 1.132–4.492)
PHACTR1 gene polymorphisms rs9349379 and rs499818 are associated with increased susceptibility to high pulse pressure in the Chinese Han population.
PHACTR1 rs9349379 AA genotype may raise high-PP odds in Chinese Han; extends prior GWAS but leaves causal role and utility open.
A genome-wide association study (GWAS) in Chinese twins was performed to explore associations between genes and pulse pressure (PP) in 2012, and detected a suggestive association in the phosphatase and actin regulator 1 (PHACTR1) gene on chromosome 6p24.1 (rs1223397, P=1.04e-07). The purpose of the present study was to investigate associations of PHACTR1 gene polymorphisms with PP in a Chinese population. We recruited 347 subjects with PP ≥ 65 mmHg as cases and 359 subjects with 30 ≤ PP ≤ 45 mmHg as controls. Seven single nucleotide polymorphisms (SNPs) in the PHACTR1 gene were genotyped. Logistic regression was performed to explore associations between SNPs and PP in codominant, additive, dominant, recessive and overdominant models. The Pearson's χ2 test was applied to assess the relationships of haplotypes and PP. The A allele of rs9349379 had a positive effect on high PP. Multivariate logistic regression analysis showed that rs9349379 was significantly related to high PP in codominant [AA vs GG, 2.255 (1.132-4.492)], additive [GG vs GA vs AA, 1.368 (1.049-1.783)] and recessive [AA vs GA + GG, 2.062 (1.051-4.045)] models. The positive association between rs499818 and high PP was significant in codominant [AA vs GG, 3.483 (1.044-11.613)] and recessive [AA vs GG + GA, 3.716 (1.119-12.339)] models. No significant association of haplotypes with PP was detected. There was no significant interaction between six SNPs without strong linkage. In conclusion, the present study presents that rs9349379 and rs499818 in the PHACTR1 gene were significantly associated with PP in Chinese population. Future research should be conducted to confirm them.
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Gu et al. (2020) conducted a case-control in High pulse pressure (n=706). PHACTR1 gene polymorphisms (rs9349379 and rs499818) vs. Reference genotypes (e.g., GG genotype) was evaluated on High pulse pressure (PP ≥ 65 mmHg) (OR 2.255, 95% CI 1.132-4.492). The AA genotype of the PHACTR1 rs9349379 polymorphism was associated with a 2.25-fold increased odds of high pulse pressure compared to the GG genotype in a Chinese Han population.
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