rs117723999 (AP1S2P1-RN7SKP104): Lung Cancer GWAS

Key takeaways

• rs117723999 is located in a region containing AP1S2P1 and RN7SKP104, two pseudogenes (gene-like sequences that do not produce functional proteins)
• The available study is a large lung cancer genome-wide association study (GWAS) covering 29,266 cases and 56,450 controls of European descent
• Specific association statistics for rs117723999 are not reported in the provided study text, limiting conclusions about this variant's effect
• Evidence for this locus should be treated as preliminary pending dedicated reporting of variant-level data

What the research says A multi-cohort GWAS combined OncoArray genotyping (14,803 cases, 12,262 controls) with existing lung cancer GWAS data to analyze 29,266 cases and 56,450 controls of European ancestry across approximately 10.4 million SNPs. The study identified 18 lung cancer susceptibility loci at genome-wide significance (P < 5×10−8), including 10 novel loci, and documented substantial heterogeneity in genetic susceptibility across histological subtypes including adenocarcinoma and squamous cell carcinoma. The provided study text does not include specific p-values, odds ratios, or confidence intervals for rs117723999 in the AP1S2P1-RN7SKP104 region (hereafter "this region"), so no direct association statistics can be attributed to this locus from the available evidence.

Reported associations

• Lung cancer susceptibility: rs117723999 appears in the context of a large-scale lung cancer GWAS; specific association statistics for this variant are not contained in the available study excerpt, so effect size and direction cannot be reported

Evidence quality The backing study is methodologically robust: it pooled data across multiple cohorts (29,266 cases and 56,450 controls of European descent), applied imputation to the 1000 Genomes Project reference panel, used fixed-effects meta-analysis, and validated genotyping accuracy through repeat genotyping of 12% of OncoArray-genotyped samples. Despite this strong methodological foundation, variant-level data for rs117723999 are absent from the provided study text. The study notes that all findings with P < 1×10−5 are reported in supplementary tables not included here, so this locus may appear in those supplementary data at a sub-genome-wide-significance threshold. Without those specific data, no effect size, p-value, replication status, or histological subtype specificity can be confirmed for this region.

Lifestyle considerations No lifestyle considerations on file for this variant.