PhenoModifier-Variant Detail

Variant "PLAUR:n.-3818T>C"

Search result: 1 record

Variant information

Gene:

PLAUR

Variant:

PLAUR:n.-3818T>C

Genomic location:

chr9:137267439(hg19)

HGVS:

SO Term	RefSeq
pseudogene	NR_039816.1:n.-3818T>C
protein_coding	NM_001291920.1:c.-26092T>C
protein_coding	NM_002957.5:c.29-26039T>C

dbSNP ID:

rs10881583

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Risk factor(1)

Detail：

Target disease:

Breast Cancer (DOID_1612)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

P<0.001

Effect:

SNPs in the RXRA and PLAUR genes in the vitamin D pathway may contribute to breast cancer DFS

Reference:

PMID23180655

Title:

Genetic variants in the vitamin D pathway and breast cancer disease-free survival.

Species studied:

Human

Abstract:

Epidemiological studies have investigated the association between vitamin D pathway genes and breast cancer risk; however, little is known about the association between vitamin D pathway genes and breast cancer prognosis. In a retrospective cohort of 1029 patients with early-stage breast cancer, we analyzed the association between 106 tagging single nucleotide polymorphisms (SNPs) in eight vitamin D pathway genes and breast cancer disease-free survival (DFS) using Cox regression analysis adjusted for known prognostic variables. Using a false discovery rate of 10%, six intronic SNPs were significantly associated with poorer DFS: retinoid-X receptor alpha (RXRA) SNPs (rs881658, rs11185659, rs10881583, rs881657 and rs7864987) and plasminogen activator and urokinase receptor (PLAUR) SNP (rs4251864). Treatment received (no systemic therapy, hormone therapy alone or chemotherapy) was an effect modifier of the RXRA SNPs association with DFS (P < 0.05); therefore, we stratified further analysis by treatment group. Among patients who did not receive systemic therapy, RXRA SNP [rs10881583 (P = 0.02)] was associated with poorer DFS, and among patients who received chemotherapy, RXRA SNPs (rs881658, rs11185659, rs10881583, rs881657 and rs7864987) were associated with poorer DFS (P < 0.001 for all SNPs). However, RXRA SNPs: rs10881583 (P < 0.001) and rs881657 (P = 0.02) were associated with improved DFS in patients treated with hormone therapy alone. Our results suggest that SNPs in the RXRA and PLAUR genes in the vitamin D pathway may contribute to breast cancer DFS. In particular, SNPs in RXRA may predict for poorer or improved DFS in patients, according to type of systemic treatment received. If validated, these markers could be used for risk stratification of breast cancer patients.