PhenoModifier-Variant Detail

Variant "SERPINA3:p.Asp321*"

Search result: 1 record

Variant information

Gene:

SERPINA3

Variant:

SERPINA3:p.Asp321*

Mouse homolog:

Serpina3k:p.Asn319Asp

dbSNP ID:

no data

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered survival time(1)

Detail：

Target disease:

Astrocytoma (DOID_3069)

Effect type:

Expressivity

Modifier effect:

Altered survival time

Evidence:

Study on mouse strains

Effect:

A subset of these genes shows male-specific correlations to glioblastoma patient survival time and represents strong candidates for the Arlm1 modifier gene.

Reference:

PMID22234937

Title:

Arlm1 is a male-specific modifier of astrocytoma resistance on mouse Chr 12.

Species studied:

Mouse

Abstract:

While many cancers show a sex bias, the genetic basis and molecular mechanisms underlying sex bias are not always clear. Astrocytoma and glioblastoma show male predominance in humans. We have shown previously that glial tumors forming in the Nf1-/+; Trp53-/+cis (NPcis) mouse model also show a sex bias in some genetic contexts. Using cross-species comparisons we have identified candidate male-specific modifiers of astrocytoma/glioblastoma. Linkage analysis of B6X(B6X129)-NPcis mice identifies a modifier of astrocytoma resistance specific to males, named Arlm1, on distal mouse Chr 12. Arlm1 is syntenic to human Chr 7p15, 7p21, 7q36, and 14q32 regions that are altered in human glioblastoma. A subset of these genes shows male-specific correlations to glioblastoma patient survival time and represents strong candidates for the Arlm1 modifier gene. Identification of male-specific modifier genes will lead to a better understanding of the molecular basis of male predominance in astrocytoma and glioblastoma.