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Serum amyloid A1

This gene encodes a member of the serum amyloid A family of apolipoproteins. As an acute phase protein it plays an important role in immune modulation. Variations in that gene have been reported in association with different clinical courses of familial mediteranean fever.

Interpretation

The table shows the frequencies of the most commen missense variants.

rs1136743 NM_000331.5:c.209C>T NP_000322.2:p.A70V(GCC>GTC) T(V)=0.47989
rs1136747 NM_000331.5:c.224T>C NP_000322.2:p.V75A(GTG>GCG) T(V)=0.46655
rs557915415 NM_000331.5:c.232G>A NP_000322.2:p.D78N(GAT>AAT) A(N)=0.00013
rs79681911 NM_000331.5:c.269G>A NP_000322.2:p.G90D(GGT>GAT) A(D)=0.00205

These missense variations occur in various combinations which have their own nomenclature.

SAA1.1 70V;75A;78D;90G
SAA1.2 70A;75V;78D;90D
SAA1.3 70A;75A;78D;90G
SAA1.4 70A;75V;78N;90G
SAA1.5 70A;75V;78D;90G

There is a strong linkage disequilibrium among these variants. For the missense variants at the codon positions 70 and 75 the following combinations are distinguished.: alpha p.[A70V;V75A], beta p.[A70=;V75=], gamma p.[A70=;V75A]. The latter shows a preponderance to develop AA amyloidosis in patients with rheumatoid arthritis.[Error: Macro 'ref' doesn't exist]

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial mediterranean fever
MEFV
NOD2
SAA1
TNFRSF1A

References:

1.

Lundmark K et al. (2002) Transmissibility of systemic amyloidosis by a prion-like mechanism.

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2.

Sellar GC et al. (1994) The human serum amyloid A protein (SAA) superfamily gene cluster: mapping to chromosome 11p15.1 by physical and genetic linkage analysis.

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3.

Stevens G et al. (1993) A new negroid-specific HindIII polymorphism in the serum amyloid A1 (SAA1) gene increases the usefulness of the SAA locus in linkage studies.

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4.

Watson G et al. (1994) Use of somatic cell hybrids and fluorescence in situ hybridization to localize the functional serum amyloid A (SAA) genes to chromosome 11p15.4-p15.1 and the entire SAA superfamily to chromosome 11p15.

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5.

Sellar GC et al. (1994) Organization of the region encompassing the human serum amyloid A (SAA) gene family on chromosome 11p15.1.

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6.

Baba S et al. (1995) A novel allelic variant of serum amyloid A, SAA1 gamma: genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA-amyloidosis.

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7.

Kluve-Beckerman B et al. (1995) Genes encoding human serum amyloid A proteins SAA1 and SAA2 are located 18 kb apart in opposite transcriptional orientations.

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8.

Bausserman LL et al. (1982) NH2-terminal analysis of four of the polymorphic forms of human serum amyloid A proteins.

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9.

Bausserman LL et al. (1980) Heterogeneity of human serum amyloid A proteins.

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10.

None () Molecular cloning of human genes for serum amyloid A.

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11.

Taylor BA et al. (1984) Genes for serum amyloid A proteins map to Chromosome 7 in the mouse.

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12.

Sipe JD et al. (1985) Human serum amyloid A (SAA): biosynthesis and postsynthetic processing of preSAA and structural variants defined by complementary DNA.

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13.

Kluve-Beckerman B et al. (1986) DNA sequence evidence for polymorphic forms of human serum amyloid A (SAA).

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14.

Kluve-Beckerman B et al. (1986) Localization of human SAA gene(s) to chromosome 11 and detection of DNA polymorphisms.

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15.

Strachan AF et al. (1989) Human serum amyloid A protein. The assignment of the six major isoforms to three published gene sequences and evidence for two genetic loci.

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16.

Sack GH et al. (1989) Molecular analysis of the human serum amyloid A (SAA) gene family.

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17.

Kluve-Beckerman B et al. (1991) Characterization of an isoelectric focusing variant of SAA1 (ASP-72) in a family of Turkish origin.

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18.

Kluve-Beckerman B et al. (1991) Nonexpression of the human serum amyloid A three (SAA3) gene.

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19.

Betts JC et al. (1991) The human acute-phase serum amyloid A gene family: structure, evolution and expression in hepatoma cells.

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20.

Beach CM et al. (1992) Human serum amyloid A protein. Complete amino acid sequence of a new variant.

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21.

Svatikova A et al. (2003) Serum amyloid a in obstructive sleep apnea.

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22.

Cazeneuve C et al. (2000) Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

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23.

NCBI article

NCBI 6288 external link
24.

OMIM.ORG article

Omim 104750 external link
25.

Orphanet article

Orphanet ID 330340 external link
26.

Wikipedia article

Wikipedia EN (Serum_amyloid_A1) external link
Update: Aug. 14, 2020
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