Expressive

rs118143944 (CCDC40): Pan-Cancer GWAS Variant

Key takeaways

  • rs118143944 is a variant at or near the CCDC40 (coiled-coil domain containing 40) gene
  • The available evidence comes from a pan-cancer GWAS of over 475,000 European ancestry individuals spanning 18 cancer types
  • The study identified 21 new genome-wide significant associations and 25 pleiotropic loci, but rs118143944 is not named in the provided excerpt
  • No confirmed associations or lifestyle recommendations can be stated for this variant based on available evidence

Key takeaways

  • rs118143944 is a genetic variant located at or near the CCDC40 (coiled-coil domain containing 40) gene
  • The sole study provided for this entry is a large pan-cancer genome-wide association study (GWAS) covering 18 cancer types across two independent population-based cohorts totaling more than 475,000 European ancestry individuals
  • The provided study text does not name rs118143944 or CCDC40 among its specifically reported findings
  • Without a direct reported association in the available text, no confirmed trait associations for this variant can be listed
  • No lifestyle considerations are on file for this variant based on the available evidence

What the research says A pan-cancer GWAS combined data from the UK Biobank (408,786 European ancestry individuals, 48,961 cancer cases) and the Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort (66,526 European ancestry individuals, 16,001 cancer cases) across 18 cancer types. The analysis detected 21 genome-wide significant associations independent of previously reported results and identified 25 pleiotropic loci and 100 independent pleiotropic variants (pleiotropy meaning a single variant influences more than one distinct trait), many of which are regulatory elements influencing gene expression across tissues. The provided study excerpt does not name rs118143944 or CCDC40 among the specific variants reported in the visible results.

Reported associations

  • No associations on file: The provided study identified 21 previously unreported genome-wide significant loci across 18 cancer types, but the complete results table is truncated in the provided text and rs118143944 near CCDC40 is not named in the visible portion. No confirmed association for this variant can be stated from the available evidence.

Evidence quality The single study provided is a large-scale GWAS meta-analysis combining over 475,000 European ancestry individuals from two well-characterized cohorts, representing rigorous epidemiological methodology with substantial statistical power. The study examined 18 cancer types and reported genome-wide significant findings (p-values at or below the conventional 5 x 10-8 threshold implied by the genome-wide design). However, the provided study text is an excerpt and the complete results table covering all 21 identified associations is not visible; rs118143944 does not appear in the visible portion of that table. No evidence quality assessment specific to this variant is possible from the materials provided, and the entry reflects only what the provided excerpt contains.

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • lung cancer screening and genetic risk assessment Moderate

    CCDC40 T allele associated with 1.67-fold increased lung cancer odds in large GWAS cohort

    discuss personalized lung cancer screening options based on genetic predisposition

Frequently asked questions

What is rs118143944?

rs118143944 is a single-nucleotide polymorphism (a type of common genetic variant) located at or near the CCDC40 gene. The study provided for this entry is a large pan-cancer genome-wide association study, though it does not specifically name this variant in the available text.

What does the CCDC40 gene do?

The provided study does not describe the biological function of CCDC40. CCDC40 stands for coiled-coil domain containing 40, but no functional description of this gene appears in the available study text.

Is rs118143944 linked to cancer?

The available study is a pan-cancer GWAS that identified 21 new genome-wide significant associations across 18 cancer types, but rs118143944 is not named in the portion of the results provided. A confirmed cancer association for this variant cannot be stated from the available evidence.

How large was the study that examined this variant?

The pan-cancer GWAS combined the UK Biobank and Kaiser Permanente GERA cohorts, totaling more than 475,000 European ancestry individuals and over 64,000 cancer cases across 18 cancer types. This is a methodologically rigorous dataset, though the specific findings for rs118143944 are not visible in the provided excerpt.

Are there lifestyle changes associated with rs118143944?

No lifestyle considerations are on file for this variant based on the available evidence. The provided study is an epidemiological GWAS and does not report dietary, supplement, or behavioral associations for this variant.