PEAR1 is not a human hypertension-susceptibility gene

Figures & data

Figure 1. Plot of the PEAR1 gene on chromosome 1q21.3–1q23.3. The x-axis represents the physical position on the chromosome (build 37, hg19). The y-axis and the line indicate the recombination rate. We selected nine single nucleotide polymorphisms (SNPs; rs number and position given) that are in high linkage disequilibrium (R² > 0.80) with ∼50 tagged SNPs denoted by vertical lines.

Table I. Multivariable-adjusted associations between blood pressure changes and PEAR1 single nucleotide polymorphism (SNPs).

			Major/minor alleles		No. with genotype (AA/Aa+ aa)	Effect size (95% CI)
Marker	Position (bp)	Location		MAF		Systolic pressure	Diastolic pressure
rs2768762	156860462	5’-flanking	T/G	0.21	1245/728	–0.18 (–0.85 to 0.49)	–0.14 (–0.57 to 0.28)
rs2644620	156861168	5’-flanking	T/C	0.11	1553/420	–0.18 (–0.96 to 0.61)	–0.19 (–0.70 to 0.31)
rs12566888	156869047	Intron	G/T	0.10	1596/377	–0.56 (–1.35 to 0.29)	–0.17 (–0.70 to 0.35)
rs2768744	156872149	Intron	A/G	0.21	1239/734	–0.32 (–0.99 to 0.34)	–0.24 (–0.66 to 0.19)
rs6671392	156878737	Coding	T/C	0.13	1506/467	0.08 (–0.68 to 0.83)	–0.20 (–0.68 to 0.29)
rs822441	156882996	Coding	G/C	0.16	1406/567	0.11 (–0.61 to 0.82)	0.12 (–0.34 to 0.57)
rs11264581	156883493	Coding	G/A	0.17	1366/607	0.10 (–0.61,0.80)	–0.42 (–0.87 to 0.03)
rs12137505	156883546	Coding	A/G	0.44	1347/626	–0.09 (–0.78 to 0.61)	0.01 (–0.43 to 0.45)
rs749256	156884365	Intron	C/T	0.22	1202/771	0.54 (–0.02 to 1.30)	–0.09 (–0.51 to 0.33)

All estimates accounted for family clusters and blood pressure at baseline and were adjusted for sex, age, body mass index, smoking and drinking, total cholesterol, and antihypertensive drug treatment. None of the p-values for association with the SNPs reached significance (p ≥ 0.059). p-values refer to the significance of the difference between homozygotes of the major allele (AA) versus heterozygotes and homozygotes of the minor allele (Aa+ aa). MAF indicates minor allele frequency. To retrieve information about SNPs and their genomic context we used the hg19 (National Center for Biotechnology Information 37) assembly.