Title : PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

Pub. Date : 2014 Jul

PMID : 24442913






4 Functional Relationships(s)
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1 PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population. polyalanine paired like homeobox 2B Homo sapiens
2 Of all DNA variants considered, only the length variation of the polyalanine repeat in exon 3 of the PHOX2B gene was found to be statistically significantly associated with USID/SIDS in the Dutch population after multiple test correction. polyalanine paired like homeobox 2B Homo sapiens
3 Interestingly, our data suggest that contraction of the PHOX2B exon 3 polyalanine repeat that we found in six of 160 SIDS and USID cases and in six of 814 controls serves as a probable genetic risk factor for USID/SIDS at least in the Dutch population. polyalanine paired like homeobox 2B Homo sapiens
4 Future studies are needed to confirm this finding and to understand the functional effect of the polyalanine repeat length variation, in particular contraction, in exon 3 of the PHOX2B gene. polyalanine paired like homeobox 2B Homo sapiens