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Association study of aromatase gene (CYP19A1) in essential hypertension.

Shimodaira M, Nakayama T, Sato N, Saito K, Morita A, Sato I, Takahashi T, Soma M, Izumi Y - Int J Med Sci (2008)

Bottom Line: On multiple logistic regression analysis, a significant association between rs700518 (p=0.023) and rs10046 (p=0.036) in male subjects and rs700518 in female subjects (p=0.018) was noted.The A-T haplotype constructed with rs1870049 and rs10046 was a susceptibility marker for EH.We confirmed that rs700518 and rs10046, as well as a haplotype constructed with rs1870049 and rs10046, in the human CYP19A1 gene can be used as genetic markers for gender-specific EH.

View Article: PubMed Central - PubMed

Affiliation: MD Program, Nihon University School of Medicine, Tokyo, Japan.

ABSTRACT

Background: As aromatase-deficient mice, which are deficient in estrogens, reportedly have reduced blood pressure, the aromatase gene (CYP19A1) is thought to be a susceptibility gene for essential hypertension (EH). The aim of the present study was to investigate the relationship between CYP19A1 and EH by examining single nucleotide polymorphisms (SNPs).

Methods: Five SNPs in the human CYP19A1 gene (rs1870049, rs936306, rs700518, rs10046 and rs4646) were selected, and an association study was performed in 218 Japanese EH patients and 225 age-matched normotensive (NT) individuals.

Results: There were significant differences between these groups in the distribution of genotypes rs700518 and rs10046 in male subjects, and genotypes rs700518, rs10046 and rs4646 in female subjects. On multiple logistic regression analysis, a significant association between rs700518 (p=0.023) and rs10046 (p=0.036) in male subjects and rs700518 in female subjects (p=0.018) was noted. Interestingly, the risk genotypes of rs700518 and rs10046 showed a sex-dependent inverse relationship. Both SBP and DBP levels were higher in total (cases and controls) male subjects with the G/G genotype with rs700518 or the T/T genotype with rs10046 than in male subjects without the G/G genotype or T/T genotype. SBP levels were lower in female subjects with the G/G genotype with rs700518 than in female subjects without G/G. The A-T haplotype constructed with rs1870049 and rs10046 was a susceptibility marker for EH.

Conclusions: We confirmed that rs700518 and rs10046, as well as a haplotype constructed with rs1870049 and rs10046, in the human CYP19A1 gene can be used as genetic markers for gender-specific EH.

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Related in: MedlinePlus

Organization of the human CYP19A1 gene and location of SNPs. The gene is approximately 130 kilobase pairs (kb) in length, and has a total of 11 exons. Boxes indicate exons, and lines indicate introns and intergenic regions. Filled boxes indicate coding regions. There are two transcript variants; variant 1 does not include exon 2a, and thus has a shorter 5'-UTR than transcript variant 2; variant 2 includes exon 2a. Both variants encode the same protein. Polymorphisms were expressed as nucleotide number on the sense strand of the CYP19A1 gene.
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Figure 1: Organization of the human CYP19A1 gene and location of SNPs. The gene is approximately 130 kilobase pairs (kb) in length, and has a total of 11 exons. Boxes indicate exons, and lines indicate introns and intergenic regions. Filled boxes indicate coding regions. There are two transcript variants; variant 1 does not include exon 2a, and thus has a shorter 5'-UTR than transcript variant 2; variant 2 includes exon 2a. Both variants encode the same protein. Polymorphisms were expressed as nucleotide number on the sense strand of the CYP19A1 gene.

Mentions: The aim of the present study was to investigate the relationship between the human CYP19A1 gene and EH by examining 5 SNPs in the human CYP19A1 gene (Figure 1) in Japanese individuals.


Association study of aromatase gene (CYP19A1) in essential hypertension.

Shimodaira M, Nakayama T, Sato N, Saito K, Morita A, Sato I, Takahashi T, Soma M, Izumi Y - Int J Med Sci (2008)

Organization of the human CYP19A1 gene and location of SNPs. The gene is approximately 130 kilobase pairs (kb) in length, and has a total of 11 exons. Boxes indicate exons, and lines indicate introns and intergenic regions. Filled boxes indicate coding regions. There are two transcript variants; variant 1 does not include exon 2a, and thus has a shorter 5'-UTR than transcript variant 2; variant 2 includes exon 2a. Both variants encode the same protein. Polymorphisms were expressed as nucleotide number on the sense strand of the CYP19A1 gene.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2238181&req=5

Figure 1: Organization of the human CYP19A1 gene and location of SNPs. The gene is approximately 130 kilobase pairs (kb) in length, and has a total of 11 exons. Boxes indicate exons, and lines indicate introns and intergenic regions. Filled boxes indicate coding regions. There are two transcript variants; variant 1 does not include exon 2a, and thus has a shorter 5'-UTR than transcript variant 2; variant 2 includes exon 2a. Both variants encode the same protein. Polymorphisms were expressed as nucleotide number on the sense strand of the CYP19A1 gene.
Mentions: The aim of the present study was to investigate the relationship between the human CYP19A1 gene and EH by examining 5 SNPs in the human CYP19A1 gene (Figure 1) in Japanese individuals.

Bottom Line: On multiple logistic regression analysis, a significant association between rs700518 (p=0.023) and rs10046 (p=0.036) in male subjects and rs700518 in female subjects (p=0.018) was noted.The A-T haplotype constructed with rs1870049 and rs10046 was a susceptibility marker for EH.We confirmed that rs700518 and rs10046, as well as a haplotype constructed with rs1870049 and rs10046, in the human CYP19A1 gene can be used as genetic markers for gender-specific EH.

View Article: PubMed Central - PubMed

Affiliation: MD Program, Nihon University School of Medicine, Tokyo, Japan.

ABSTRACT

Background: As aromatase-deficient mice, which are deficient in estrogens, reportedly have reduced blood pressure, the aromatase gene (CYP19A1) is thought to be a susceptibility gene for essential hypertension (EH). The aim of the present study was to investigate the relationship between CYP19A1 and EH by examining single nucleotide polymorphisms (SNPs).

Methods: Five SNPs in the human CYP19A1 gene (rs1870049, rs936306, rs700518, rs10046 and rs4646) were selected, and an association study was performed in 218 Japanese EH patients and 225 age-matched normotensive (NT) individuals.

Results: There were significant differences between these groups in the distribution of genotypes rs700518 and rs10046 in male subjects, and genotypes rs700518, rs10046 and rs4646 in female subjects. On multiple logistic regression analysis, a significant association between rs700518 (p=0.023) and rs10046 (p=0.036) in male subjects and rs700518 in female subjects (p=0.018) was noted. Interestingly, the risk genotypes of rs700518 and rs10046 showed a sex-dependent inverse relationship. Both SBP and DBP levels were higher in total (cases and controls) male subjects with the G/G genotype with rs700518 or the T/T genotype with rs10046 than in male subjects without the G/G genotype or T/T genotype. SBP levels were lower in female subjects with the G/G genotype with rs700518 than in female subjects without G/G. The A-T haplotype constructed with rs1870049 and rs10046 was a susceptibility marker for EH.

Conclusions: We confirmed that rs700518 and rs10046, as well as a haplotype constructed with rs1870049 and rs10046, in the human CYP19A1 gene can be used as genetic markers for gender-specific EH.

Show MeSH
Related in: MedlinePlus