A screen of 359 prostate cancer cases and 257 controls found this variant, previously implicated in susceptibility to prostate cancer, heterozygously or homozygously in 27 of the cases and 9 of the controls. This has a significance of .037 (2-tailed Fisher’s Exact).
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In a survey of 429 cases and 148 controls, 42 cases and 5 controls were found to be heterozygous or homozygous for this variant. This has a p-value of 0.014 (two-tailed Fisher’s Exact).
In a survey of 257 unrelated prostate cancer cases and 355 healthy unrelated controls, 25 cases and 13 controls were heterozygous or homozygous for this variant.
Another study tries to split people up by age of onset … they find no significant association between A541T and prostate cancer. Control+ (with A/T or T/T genotype): 22, control-: 435. <=55 years of age case+: 18, case-: 226. >55 years case+: 10, case-: 156. Neither the age-related or combined numbers of cases are significantly enriched for the variant.
This meta-analysis says it’s real. The last author is first author in a previous study that supported this variant as pathogenic.
This meta-analysis combines some of their own data with other studies and concludes that the variant is not pathogenic.
A study in African American families did not find a correlation between A541T and prostate cancer in sporadic cases (possibly because the variant was quite rare). Sporadic cases: T/T: 0, A/T: 2, A/A: 153. Familial cases: T/T: 0, A/T: 0, A/A: 88. Controls: T/T: 0, A/T: 5, A/A: 291. The combined numbers are used.
The most recent meta-analysis of ELAC2 polymorphisms Ser217Leu and Ala541Thr, this concludes that these are associated with prostate cancer and may be “low-penetrance susceptibility markers of prostate cancer”. They note that there is publication bias for results supporting pathogenicity (p = 0.011) but that no single paper is necessary for their conclusion of pathogenicity (ie removal of any single paper doesn’t change this result).
Their combined analysis has an odds ratio of 1.22 with a 95% confidence interval 1.00 to 1.48. (An odds ratio of 1.00 would be expected if a variant has no pathogenic effect, so this is barely meeting a significance cutoff.)