PhenoModifier-Variant Detail

Variant "NFKB1A:c.2758A>G"

Search result: 1 record

Variant information

Gene:

NFKB1A

Variant:

NFKB1A:c.2758A>G

Genomic location:

chr14:35871093(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_020529.2:c.*126G>A

dbSNP ID:

rs696

GWAS trait:

lymphocyte count,cardiovascular disease,leukocyte count

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Risk factor(1)

Detail：

Target disease:

Colorectal Cancer (DOID_9256)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

OR=1.71; 95% CI: 1.23-2.38

Effect:

NFκB1 and NFκBIA polymorphisms appear to jointly contribute to risk of CRC.

Reference:

PMID21738780

Title:

NFκB1 and NFκBIA polymorphisms are associated with increased risk for sporadic colorectal cancer in a southern Chinese population.

Species studied:

Human

Abstract:

Nuclear factor κB (NFκB) plays a key role in the regulation of apoptosis. The function of NFκB is inhibited by binding to NFκB inhibitor (IκB), and disruption of the balance of NFκB and IκB is related to the development of many diseases, including tumors. Therefore, we hypothesized that the NFκB1 (-94del/insATTG) and NFκBIA (2758 A>G) polymorphisms were associated with colorectal cancer (CRC) susceptibility.