In a study of Afro-Caribbean males from Tobago, S217L and A514T polymorphisms were genotyped in cases and controls. (A514T was homozygous for reference/low-risk allele in all cases and controls.) For S217L the case/control numbers are: case S/S: 71, case S/L: 43, case L/L: 5. Control S/S: 130, control S/L: 82, Control L/L: 11.
A screen of 285 sporadic prostate cancer cases in Japanese patients and 233 matched controls for S217L and A541T. case S/S: 271, S/L: 14, L/L: 0. Control S/S: 224, S/L: 9, L/L: 0.
A study in African American families found little correlation between S217L and prostate cancer (they note a p=0.03 difference in heterozygote sporadic cases). Sporadic cases: L/L: 3, S/L: 69, S/S: 83. Familial cases: L/L: 3, S/L: 30, S/S: 55. Controls: L/L: 15, S/L: 99, S/S: 182. Combined numbers, counting alleles is used below.
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 = 0.006) but that no single paper is necessary for their conclusion of pathogenicity (ie removal of any single paper doesn’t change this result).
The meta-analysis combines data from many studies and their combine OR is 1.13 with a 95% confidence interval of 1.03 to 1.24.