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rs31489(C;C)

From SNPedia

Increased risk for lung cancer and emphysema
Is agenotype
ofrs31489
GeneCLPTM1L
Chromosome5
Position1,342,599
mentionedby
Magnitude2
ReputeBad
Geno Mag Summary
(A;A) 1.1 Reduced lung cancer risk?
(A;C) 2 1.75-fold reduced risk of developing lung cancer
(C;C) 2 Increased risk for lung cancer and emphysema

[PMID 21622582] The TERT-CLPTM1L locus for lung cancer predisposes to bronchial obstruction and emphysema

The rs31489 C-allele correlated with reduced forced expiratory volume in 1 s (p=0.006). Homozygous carriers of the rs31489 C-allele exhibited increased susceptibility to bronchial obstruction (OR 1.82, 95% CI 1.24–2.69; p=0.002). A similar association was observed for diffusing capacity of the lung for carbon monoxide (p=0.004). Consistent with this, CC-carriers had an increased risk of emphysema (OR 2.04, 95% CI 1.41–2.94; p=1.73×10−4) and displayed greater alveolar destruction. Finally, CC-carriers also had an increased risk for lung cancer (OR 1.90, 95% CI 1.21–2.99; p=0.005), and were more susceptible to developing both lung cancer and bronchial obstruction than lung cancer alone (OR 2.11, 95% CI 1.04–4.26; p=0.038).