PhenoModifier-Variant Detail

Variant "LTA:c.+252A/Gc."

Search result: 1 record

Variant information

Gene:

LTA

Variant:

LTA:c.+252A/Gc.

Genomic location:

chr6:31540313(hg19)

HGVS:

dbSNP ID:

rs909253

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered FEV(1)(1)

Detail：

Target disease:

Cystic fibrosis (DOID_1485)

Effect type:

Expressivity

Modifier effect:

Altered FEV(1)

Evidence:

8.1ah comprises linked polymorphisms of major pro-inflammatory cytokines including lta, tnf, hsp and rage. On average, fev1 was significantly lower in 8.1 ah carriers (P<0.04).

Effect:

These findings support the concept that 8.1AH is an important genetic modifier of lung disease in CF.

Reference:

PMID21993476

Title:

Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients.

Species studied:

Human

Abstract:

The clinical course of cystic fibrosis (CF) lung disease varies between patients bearing identical CFTR mutations. This suggests that additional genetic modifiers may contribute to the pulmonary phenotype. The highly conserved ancestral haplotype 8.1 (8.1AH), carried by up to one quarter of Caucasians, comprises linked gene polymorphisms on chromosome 6 that play a key role in the inflammatory response: LTA +252A/G; TNF -308G/A, HSP70-2 +1267A/G and RAGE -429T/C. As inflammation is a key component inducing CF lung damage, we investigated whether the 8.1AH represents a lung function modifier in CF.