rs10774740 - GLULP5 - LINC02459
Magnitude 2.2 · 2 studies on file
Reported associations
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Two Susceptibility Loci Identified for Prostate Cancer Aggressiveness - Unknown journal (n.d.) · Unknown authors · PubMed 25939597
ABSTRACT: Most men diagnosed with prostate cancer will experience indolent disease; hence discovering genetic variants that distinguish aggressive from non-aggressive prostate cancer is of critical clinical importance for disease prevention and treatment. In a multistage, case-only genome-wide association study of 12,518 prostate cancer cases, we identify two loci associated with Gleason score, a pathological measure of disease aggressiveness: rs35148638 at 5q14.3 (RASA1, P=6.49×10-9) and rs78943174 at 3q26.31 (NAALADL2, P=4.18×10-8). In a stratified case-control analysis, the SNP at 5q14.3 appears specific for aggressive prostate cancer (P=8.85×10-5) with no association for non-aggressive prostate cancer compared to controls (P=0.57). The proximity of these loci to genes involved in va
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Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves - Unknown journal (n.d.) · Unknown authors · PubMed 36124557
ABSTRACT: Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in 132 unrelated male PUV cases and 23,727 controls of diverse ancestry, identifying statistically significant associations with common variants at 12q24.21 (p=7.8 × 10−12; OR 0.4) and rare variants at 6p21.1 (p=2.0 × 10-8; OR 7.2), that were replicated in an independent European cohort of 395 cases and 4151 controls. Fine mapping and functional genomic data mapped these loci to the transcription factor TBX5 and planar cell polarity gene PTK7, respectively, the encoded proteins of which were detected in the developing urinary tract of human emb
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Exercise
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pelvic floor exercises for incontinence prevention Moderate
Lack of protective T allele increases genetic risk for urinary incontinence and pelvic prolapse
Perform pelvic floor exercises daily or consult pelvic floor physical therapist
Screening
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prostate cancer screening discussion given genetic risk Moderate
The G allele is associated with increased prostate cancer aggressiveness (OR 1.14), likely through effects on TBX5 expression
Discuss with doctor about prostate cancer screening strategy, starting age, and frequency