Q2. What is the incidence of soccer injuries?
The incidence 6 of soccer-related injuries is estimated to be 10-35 per 1000 hours of exposure in adult male soccer 7players, 5, 6 with approximately 60-80% of injuries occurring in the lower extremities, most 8 commonly at the knee or ankle.
Q3. How many haplotypes were evaluated for an association with ACL rupture?
A total of 2 3 reconstituted haplotypes with estimated frequency >0.05 were found, and only those were 3 evaluated for an association with ACL rupture.
Q4. What is the effect of the COL1A1 gene on the incidence of ACL rupture?
1 Recently, a transcription analysis that included COL1A1 -1997G/T, and COL1A1 Sp1 2 +1245G/T polymorphisms in the 5’ flank of COL1A1 revealed that the levels of transcription are 3 influenced by haplotype (i.e., a combination of alleles at adjacent locations on the chromosome 4 that are transmitted together), rather than by the genotype, at individual polymorphic sites, 5 indicating that COL1A1 polymorphisms interact with each other to form a haplotype that regulates 6transcription.
Q5. What is the general rule of thumb for interpreting genetic association studies?
In general, genetic association studies must be interpreted 25 with caution, since there is a non-trivial possibility of false positive results attributable to chance, 26 particularly in studies involving multiple gene-trait analyses.
Q6. What is the effect of the -1663indelT polymorphism on the A?
In fact, haplotype analysis of the COL1A1 -1997G/T and -15 1663indelT polymorphisms revealed that haplotypes containing the G allele (-1997 G/T 16polymorphism) yielded high transcriptional activity regardless the -1663 allele status.
Q7. How many TT genotypes are associated with a significantly lower risk of cruciate?
Higher frequency distribution of the COL1A1 +1245TT genotype has been reported to be 7associated with a substantially lower risk of cruciate ligament ruptures in both Swedish 16 and 8South African participants.
Q8. How many cases of ACL ruptures were reported in the Swedish and South African studies?
The TT genotype frequency, when compared to combined control groups (4.1%) was 11 about ten times less frequent in subjects with all other soft tissue injuries, namely, cruciate 12 ligament ruptures, shoulder dislocation, and Achilles tendon rupture (2 cases out of 517, 0.4%).
Q9. What was the association between the COL1A1 haplotypes and ACL 7?
The authors then tested the association between these haplotypes and ACL 7 rupture assuming three haplotype effects: additive (considering the count of a particular haplotype 8 as 0, 1 and 2), dominant (heterozygous or homozygous carrier of a particular haplotype versus 9 otherwise) and recessive (homozygous for a particular haplotype versus otherwise).
Q10. What is the association between the G-T haplotype and ACL rupture?
Under the 10 recessive mode of inheritance, haplotype analysis yielded a mild significant association with ACL 11 rupture (p=0.048, Table 3), as two copies of the G-T haplotype conferred decreased risk of this 12 injury.
Q11. What is the significance of the association between the G-T haplotype and ACL rupture?
a 19 novel finding in the present study was that the G-T haplotype (COL1A1-1997G, +1245T) is 20 significantly underrepresented in the ACL rupture group compared with healthy controls 21 (p=0.048), suggesting that harbouring this particular haplotype may have a protective effect 22 against ACL rupture injury.
Q12. How many haplotypes are associated with the incidence of ACL rupture?
The authors hypothesized that the: 1) 12 COL1A1 Sp1+1245G/T and the COL1A1 -1997G/T polymorphisms would be individually 13 associated with the incidence of ACL rupture and; 2) The interaction between the COL1A1 14 Sp1+1245G/T and the COL1A1-1997G/T polymorphisms will form a haplotype that predisposes 15 athletes to a greater risk of ACL rupture.