A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal

Molecular Neurobiology
Miguel Alves-FerreiraC LEMOS

Abstract

Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may coexist in the same family. However, this variability in age at onset is still unexplained. To identify modifiers closely linked to the TTR locus that may in part be associated with age at onset of FAP ATTRV30M, in particular in a group of very early-onset patients (≤30 years) when compared with late-onset individuals. A clinical genetic study at a referral center comprising a sample of 910 Portuguese individuals includes 589 Val30Met carriers, 102 spouses, and 189 controls from the general population. Haplotype analysis was performed, using eight intragenic single nucleotide polymorphisms (SNPs) at the TTR locus. We compared haplotypes frequency in FAP samples and controls and in parent-offspring pairs using appropriated statistical analysis. Haplotype A was the most common in the general population. Noteworthy, haplotype C was more frequent in early-onset (<40) than in late-onset patients (≥50 years) (p = 0.012). When comparing allelic frequencies of each SNP within haplotype C between "very early" (≤30 years) and late-onset (≥50 years) cases, the A allele of rs7292294...Continue Reading

References

Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Sep 1, 1995·Human Genetics·M R AlmeidaM Skinner
Aug 7, 2004·Bioinformatics·J C BarrettM J Daly
Aug 4, 2005·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Miguel Munar-QuésJuana Mulet-Ferrer
May 8, 2008·Annals of Human Genetics·C ZarosV Planté-Bordeneuve
Apr 15, 2009·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M A C SaportaV Planté-Bordeneuve
Sep 9, 2010·Bioinformatics·Geoff MacintyreAdam Kowalczyk
Mar 6, 2012·American Journal of Human Genetics·Jong-Min LeeJames F Gusella
Mar 29, 2012·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Merrill D Benson
Sep 21, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Carolina LemosAlda Sousa
May 2, 2014·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Renato PolimantiMaria Fuciarelli
Nov 5, 2014·Human Genetics·Jacquelyn L SikoraLawreen H Connors

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Citations

Dec 19, 2017·Journal of Neurology·Violaine Plante-Bordeneuve
Nov 16, 2019·Cellular and Molecular Life Sciences : CMLS·Ridwan Babatunde IbrahimYo-Tsen Liu
Mar 30, 2021·Drug Design, Development and Therapy·Arianna BurtonJeffery W Kelly

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Methods Mentioned

BETA
PCR

Software Mentioned

SPSS Statistics
GeneMapper
is
HGVS
rSNP
Haploview
SNPator

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