In conclusion, we documented the association of SNPs in KLK3 and KLK2 with concentrations of PSA and hK2 in young men.
11] 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.
Genomic Amino acid SNP Location position (a) change rs2271094 (c) KLK3 exon 2 51359497 Gly16 syn rs61752561 KLK3 exon 3 51361382 Asp-Asn 102 rs1058205 KLK3 exon 5 51363398 3'UTR rs3760728 Intergene 51374592 rs11670728 (d) KLK2 upstream promoter 51376489 rs198972 KLK2 exon 3 51379893 Leu124 syn rs198977 KLK2 exon 5 51381777 Arg-Trp 250 rs198978 KLK2 exon 5 51383072 3'UTR rs80050017 KLK2 exon 5 51383200 3'UTR Major/minor Hardy-Weinberg SNP allele (b) MAF (b) equilibrium P rs2271094 (c) A/G 0.
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.
Table 2 in the online Data Supplement shows the FASTA sequence of KLK3, annotated splice sites, and SNPs identified in the present work.
1 [micro]g/L) were heterozygous for different major deletions that spanned all KLK3 exons.
This study is the first detailed characterization of single-nucleotide genetic variations and gross rearrangements involving KLK3 in individuals with very low PSA concentrations.
The data on KLK3 genetic variation in the dbSNP database (http://www.
Therefore, it is possible that DNA sequence variation at or near splice sites within KLK3 could explain differences in PSA concentrations; however, no STEP in the online STEP database has been identified within KLK3 (25).
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.