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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Haplotype-based, case-control study of the receptor (calcitonin) activity-modifying protein (RAMP) 1 gene in

T Nakayama1,2, T Nakazato1,3, H Naruse1,4

  • 1Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan.

Journal of Human Hypertension
|February 10, 2017
PubMed

Insights

A specific RAMP1 gene haplotype (T-A-T) was more prevalent in Japanese individuals with essential hypertension. This finding suggests the T-A-T haplotype may serve as a genetic marker for hypertension risk.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Molecular Biology

Background:

  • The adrenomedullin receptor, composed of CRLR and RAMP, plays a role in vasodilation.
  • RAMP1 deficiency in mice leads to inflammatory responses and elevated CGRP levels.
  • Essential hypertension (EH) is a significant cardiovascular condition with complex genetic underpinnings.

Purpose of the Study:

  • To investigate the association between RAMP1 gene single-nucleotide polymorphisms (SNPs) and haplotypes with essential hypertension in a Japanese population.
  • To identify potential genetic markers for EH susceptibility within the RAMP1 gene.

Main Methods:

  • A case-control study was conducted involving 263 EH patients and 267 normotensive (NT) controls.
  • Six RAMP1 gene SNPs were selected based on database searches (NCBI, HapMap).
  • Haplotype analysis was performed to examine allele combinations at specific SNPs (rs3754701-rs3769048-rs10199956).

Main Results:

  • No significant differences were observed in the overall distribution of genotypes or SNP alleles between EH and NT groups.
  • Haplotype analysis revealed a significant difference in allele combinations at three SNPs (rs3754701-rs3769048-rs10199956) (P=0.002).
  • The T-A-T haplotype was found to be significantly more common in the EH group (10.3%) compared to the NT group (6.1%) (P=0.047).

Conclusions:

  • The T-A-T haplotype of the RAMP1 gene may serve as a valuable genetic marker for essential hypertension.
  • The RAMP1 gene or nearby genes could be associated with an increased susceptibility to developing EH.

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