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.
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).
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.
3] 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.
6] 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).
Very restricted (tissue) Tissue abundance restricted (tissue) Wide KLK2 (prostate) KLK5 (skin, salivary, breast, esophagus) KLK1 KLK3
(prostate) KLK6 (brain/central nervous system) KLK4 KLK7 (esophagus, heart, liver, skin) KLK9 KLK8 (breast, esophagus, skin, tonsil) KLK10 KLK13 (esophagus, tonsil) KLK11 KLK12 KLK14 KLK15
We have shown here that the splice variant of the KLK3 gene seems to be expressed exclusively in the prostate.
Splice variant EST Tissue KLK1 IR-III BF822730 Kidney tumor BI832821 Pooled pancreas and spleen KLK2 IR-III AI547068 Prostate BE770927 Prostate tumor BE770929 Prostate tumor BE770943 Prostate tumor BE770947 Prostate tumor BE770950 Prostate tumor BE771002 Prostate tumor BE771007 Prostate tumor BQ918160 Sciatic nerve BQ925280 Sciatic nerve KLK3 IR-III AA934534 Metastatic prostate bone lesion BU930334 Prostate CB048196 Prostate BQ954089 Sciatic nerve AW973948 Unknown KLK4 IR-III AI557025 Prostate KLK5 IR-III Not found KLK15 IR-III BX280958 Pooled Table 3.