Several KLK3 SNPs showed associations with concentrations of PSA.
Other KLK3 SNPs have also been associated with PSA concentrations in blood.
In conclusion, we documented the association of SNPs in KLK3 and KLK2 with concentrations of PSA and hK2 in young men.
 Human genes: SERPINA5, serpin peptidase inhibitor, clade A ([alpha]-1 antiproteinase, antitrypsin), member 5; KLK2, kallikrein-related peptidase 2 encoding hK2; KLK3, kallikrein-related peptidase 3 encoding PSA.
We also looked for gross rearrangements (deletions and duplications) in the KLK3 gene by means of a high-throughput ratiometric method, the amplification ratio control system (ARCS), which we developed and validated in our laboratory to genotype copy number variants (18 ).
We detected 30 genetic variants in the KLK3 region: 25 SNPs, 2 indels, and 3 previously unreported SNPs (Table 2).
Nine coding variants were found in KLK3 exons--5 synonymous and 4 nonsynonymous variants (Table 2).
This variant has previously been reported in the dbSNP database as a KLK3 splice site variant, although it is not in the splice consensus sequence region (i.e., it is not within the obligatory dinucleotide essential for effective recognition of the acceptor site at the 3' end of intron 1).
Other than KLK3 variant rs2735839, which had a modestly significant association with BPH, the BPH and control populations showed no differences in frequency for any of the other variants.
 Human genes: KLK3, kallikrein-related peptidase 3; TERT, telomerase reverse transcriptase; FGFR2, fibroblast growth factor receptor 2; MSMB, microsemino- protein, beta-; TBX3, T-box 3; HNF1B, HNF1 homeobox B.
 Human genes: CDH16, cadherin 16, KSP-cadherin; HIF1A, hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor); HPRT1, hypoxanthine phosphoribosyltransferase 1; PPIA, peptidylprolyl isomerase A (cyclophilin A); KLK3
, kallikrein-related peptidase 3; TBP, TATA box binding protein; RN18S1, RNA, 18S ribosomal 1; MIR155HG, MIR155 host gene (nonprotein coding).
We have shown here that the splice variant of the KLK3
gene seems to be expressed exclusively in the prostate.