The TT genotype of the COL1A1 Sp1 binding site polymorphism was significantly under-represented in South African participants with ACL ruptures. We propose that this sequence variant be the first specific genetic element to be included in multifactorial models developed to understand the aetiology and risk factors for ACL rupture.
Background A rapid, blood-based triage test that allows targeted investigation for tuberculosis at the point of care could shorten the time to tuberculosis treatment and reduce mortality. We aimed to test the performance of a host blood transcriptomic signature (RISK11) in diagnosing tuberculosis and predicting progression to active pulmonary disease (prognosis) in people with HIV in a community setting.Methods In this prospective diagnostic and prognostic accuracy study, adults (aged 18-59 years) with HIV were recruited from five communities in South Africa. Individuals with a history of tuberculosis or household exposure to multidrug-resistant tuberculosis within the past 3 years, comorbid risk factors for tuberculosis, or any condition that would interfere with the study were excluded. RISK11 status was assessed at baseline by real-time PCR; participants and study staff were masked to the result. Participants underwent active surveillance for microbiologically confirmed tuberculosis by providing spontaneously expectorated sputum samples at baseline, if symptomatic during 15 months of follow-up, and at 15 months (the end of the study). The coprimary outcomes were the prevalence and cumulative incidence of tuberculosis disease confirmed by a positive Xpert MTB/RIF, Xpert Ultra, or Mycobacteria Growth Indicator Tube culture, or a combination of such, on at least two separate sputum samples collected within any 30-day period.
Background. It has been shown that there is an association between various genetic variants and Achilles tendon injuries as well as anterior cruciate ligament (ACL) ruptures. Among other variants the BstUI restriction fragment length polymorphism (RFLP) within the COL5A1 gene has been shown to be over-represented in asymptomatic participants when compared with those with chronic Achilles tendinopathy, and in asymptomatic female participants when compared with those with ACL ruptures. The male asymptomatic control participants in the ACL study, which were 10 years younger than previously investigated cohorts, had a distinctly different genotype frequency. Aim. The aim of this study was therefore to determine whether the distribution of the COL5A1 BstUI RFLP in the combined asymptomatic participants without any known history of tendon injuries is age dependent, particularly among males. Results. When the 265 male asymptomatic participants from all studies were pooled and divided into age-group tertiles, there was a significant linear increase in the CC genotype frequency (p=0.032) among the male age groups, with the youngest group having the lowest frequency (CC genotype frequency, 13%) and the oldest group having the highest (CC genotype frequency, 27%) frequency. There was however a similar CC genotype content in all three female (N=231) age groups (CC genotype frequency, 24 - 27%; p=0.795). Conclusion. The practical implication is that the selection of asymptomatic groups is of critical importance when future studies of this nature are designed. Future research investigating this genetic variant as a risk factor for soft-tissue injuries should consider these findings when selecting asymptomatic participants.
Background and PurposeShoulder morbidity following breast cancer treatment is multifactorial. Despite several treatment- and patient-related factors implicated, unexplained inter-individual variability exists in the development of such morbidity. Given the paucity of relavant genetic studies, we investigate the role of polymorphisms in candidate proteoglycan genes.Patients and methodsWe conducted a cross-sectional study on 254 South African breast cancer survivors, to evaluate associations between shoulder pain/disability and ten single nucleotide polymorphisms (SNPs) within four proteoglycan genes: ACAN (rs1126823 G>A, rs1516797 G>T, rs2882676 A>C); BGN (rs1042103 G>A, rs743641 A>T, rs743642 G>T); DCN rs516115 C>T; and VCAN (rs11726 A>G, rs2287926 G>A, rs309559). Participants were grouped into no–low and moderate–high shoulder pain/disability based on total pain/disability scores: <30 and ≥30, respectively using the shoulder pain and disability index (SPADI).ResultsThe GG genotype of VCAN rs11726 was independently associated with an increased risk of being in the moderate to high shoulder pain (P=0.005, OR=2.326, 95% CI=1.259 - 4.348) or disability (P=0.011, OR=2.439, 95% CI=1.235 - 4.762) categories, after adjusting for participants’ age. In addition, the T-T-G inferred allele combination of BGN (rs74364 - rs743642) - VCAN rs11726 was associated with an increased risk of being in the moderate to high shoulder disability category (0=0.002, OR=2.347, 95% CI=1.215 - 4.534).ConclusionOur study is first to report that VCAN rs11726, independently or interacting with BGN polymorphisms, is associated with shoulder pain or disability in breast cancer survivors. Whereas our findings suggest an involvement of proteoglycans in the etiology of shoulder pain/disability, further studies are recommended.
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