PhenoModifier-Variant Detail

Variant "P2RY2:c.137C>T(p.Pro46Leu)"

Search result: 1 record

Variant information

Gene:

P2RY2

Variant:

P2RY2:c.137C>T(p.Pro46Leu)

Genomic location:

chr11:72945341(hg19)

HGVS:

dbSNP ID:

rs2511241

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered Ca2+-influx(1)

Detail：

Target disease:

Cystic fibrosis (DOID_1485)

Effect type:

Expressivity

Modifier effect:

Altered Ca2+-influx

Evidence:

Gene activity study

Effect:

Such genetic variants might influence intracellular Ca2+-release therefore represent modifiers of Cl- secretion or of response to P2Y2 agonist therapy in CF.

Reference:

PMID16495779

Title:

P2Y2 receptor polymorphisms and haplotypes in cystic fibrosis and their impact on Ca2+ influx.

Species studied:

Human

Abstract:

Activation of P2Y2 receptors in airway epithelia by ATP and UTP stimulates a Ca2+-regulated Cl- channel, which regulates Cl- secretion in cystic fibrosis (CF). We hypothesized that genetic alterations in the P2Y2 receptor may act as disease modifiers in CF and thus analyzed the coding region of this gene for polymorphisms in 146 CF patients and 64 healthy controls. We also assessed the impact of the genetic variants on Ca2+-influx of P2Y2-null cells transfected with several P2Y2 receptor haplotypes.