COL3A1


Also found in: Acronyms.

COL3A1

A gene on chromosome 2q32.2 that encodes the pro-alpha1 chains of type-3 collagen, a fibrillar collagen found in extensible connective tissues (e.g., skin, lung, uterus, intestine and the vascular system), often in association with type-1 collagen.

Molecular pathology
COL3A1 mutations occur in Ehlers-Danlos syndrome type IV, and in aortic and arterial aneurysms.
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Although probably not biologically relevant, the COL3A1 rs1800255 variant was significantly (p=0.
The COL3A1 rs1800255 and COL12A1 rs970547 variants were not significantly associated with overall finishing time or time taken to complete any of the individual components (3.
Since there were no independent associations of the COL3A1 and COL12A1 variants with endurance performance, inferred pseudohaplotypes between COL3A1 rs1800255 G/A and COL12A1 rs970547 A/G were constructed.
Since this association was identified for the run component of the triathlon, and COL5A1 rs12722 was previously associated with the run component in this cohort,[4] inferred pseudo-haplotypes between COL3A1 rs1800255 G/A, COL5A1 rs12722 T/C and COL12A1 rs970547 A/G were constructed (Fig.
Furthermore, when the cycling component of the triathlon was investigated with inferred pseudo-haplotypes constructed from COL3A1 rs1800255, COL6A1 rs35796750 and COL12A1 rs970547, no significant associations were identified (Fig.
The main novel finding of this study was that the COL3A1 rs1800255 (G/A) and COL12A1 rs970547 (A/G) variants interacted to modulate endurance running performance in the four SA Ironman triathlon events.
Despite the rationale outlined above, no independent associations were identified between COL3A1 rs1800255 or COL12A1 rs970547 and endurance swimming, cycling, running and overall performance in the triathlons.
Furthermore, since the COL5A1 rs12722 variant was previously associated with endurance running,[4] additional gene-gene inter actions between COL3A1 rs1800255, COL5A1 rs12722 and COL12A1 rs970547 were investigated.
Finally, no significant associations were identified between the cycling component of the triathlon and inferred pseudo-haplotypes constructed from COL3A1 rs1800255, COL6A1 rs35796750 and COL12A1 rs970547.
Our main novel finding was that the COL3A1 rs1800255 and COL12A1 rs970547 variants interacted to modulate endurance running performance in the four SA Ironman triathlons investigated.
Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/mitral valve prolapse.
COL3A1 2209G>A is a predictor of pelvic organ prolapse.