Genetic polymorphisms in the prostate-specific antigen gene promoter

1. A method of screening a human male subject for a genetic predisposition for increased serum PSA levels, comprising:

detecting the presence or absence of an A/G mutation wherein said mutation is at position −5307 in the promoter of the prostate specific antigen (PSA) gene in a biological sample collected from said subject, said sample comprising DNA containing said promoter of the PSA gene; and

determining that the subject is at an increased risk of a genetic predisposition for increased serum PSA levels if a G is present at nucleotide position −5307 of the promoter of the PSA gene.

2. The method of claim 1 , wherein the detecting step includes a probe hybridization step.

3. The method of claim 1 , wherein the detecting step includes a nucleic acid amplification step.

4. The method of claim 1 , wherein the detecting step includes a polymerase chain reaction step.

5. The method of claim 1 , wherein said detecting step further comprises detecting whether said subject is homozygous for said mutation.

6. A method for identifying a human male subject having an increased risk for having increased serum prostate specific antigen (PSA) levels, comprising:

obtaining a sample comprising DNA from the subject, wherein said DNA contains a promoter of the PSA gene,

determining the nucleotide present at nucleotide position −5307 of said promoter of the PSA gene, and

determining that said subject has increased risk for having increased serum PSA levels if a G is present at nucleotide position −5307 of the promoter sequence of the PSA gene.

7. The method of claim 6 , wherein the detecting step includes a probe hybridization step.

8. The method of claim 6 , wherein the detecting step includes a nucleic acid amplification step.

9. The method of claim 6 , wherein the detecting step includes a polymerase chain reaction step.

10. The method of claim 6 , wherein said detecting step further comprises detecting whether said subject is homozygous for said mutation.

11. A method of screening a human male subject for a genetic predisposition for increased serum PSA levels, comprising:

detecting the presence or absence of a T/C mutation wherein said mutation is at position −5412 in the promoter of the prostate specific antigen (PSA) gene in a biological sample collected from said subject, said sample comprising DNA containing said promoter of the PSA gene; and

determining that the subject is at an increased risk of a genetic predisposition for increased serum PSA levels if a C is present at nucleotide position −5412 of the promoter of the PSA gene.

12. The method of claim 11 , wherein the detecting step includes a probe hybridization step.

13. The method of claim 11 , wherein the detecting step includes a nucleic acid amplification step.

14. The method of claim 11 , wherein the detecting step includes a polymerase chain reaction step.

15. The method of claim 11 , wherein said detecting step further comprises detecting whether said subject is homozygous for said mutation.

16. A method for identifying a human male subject having an increased risk for having increased serum prostate specific antigen (PSA) levels, comprising:

obtaining a sample comprising DNA from the subject, wherein said DNA contains a promoter of the PSA gene,

determining the nucleotide present at nucleotide position −5412 of said promoter of the PSA gene, and

determining that said subject has increased risk for having increased serum PSA levels if a C is present at nucleotide position −5412 of the promoter sequence of the PSA gene.

17. The method of claim 16 , wherein the detecting step includes a probe hybridization step.

18. The method of claim 16 , wherein the detecting step includes a nucleic acid amplification step.

19. The method of claim 16 , wherein the detecting step includes a polymerase chain reaction step.

20. The method of claim 16 , wherein said detecting step further comprises detecting whether said subject is homozygous for said mutation.

21. A method of screening a human male subject for a genetic predisposition for increased serum PSA levels, comprising:

detecting the presence or absence of a T/G mutation wherein said mutation is at position −5429 in the promoter of the prostate specific antigen (PSA) gene in a biological sample collected from said subject, said sample comprising DNA containing said promoter of the PSA gene; and

determining that the subject is at an increased risk of a genetic predisposition for increased serum PSA levels if a G is present at nucleotide position −5429 of the promoter of the PSA gene.

22. The method of claim 21 , wherein the detecting step includes a probe hybridization step.

23. The method of claim 21 , wherein the detecting step includes a nucleic acid amplification step.

24. The method of claim 21 , wherein the detecting step includes a polymerase chain reaction step.

25. The method of claim 21 , wherein said detecting step further comprises detecting whether said subject is homozygous for said mutation.

26. A method for identifying a human male subject having an increased risk for having increased serum prostate specific antigen (PSA) levels, comprising:

obtaining a sample comprising DNA from the subject, wherein said DNA contains a promoter of the PSA gene,

determining the nucleotide present at nucleotide position −5429 of said promoter of the PSA gene, and

determining that said subject has increased risk for having increased serum PSA levels if a G is present at nucleotide position −5429 of the promoter sequence of the PSA gene.

27. The method of claim 26 , wherein the detecting step includes a probe hybridization step.

28. The method of claim 26 , wherein the detecting step includes a nucleic acid amplification step.

29. The method of claim 26 , wherein the detecting step includes a polymerase chain reaction step.

30. The method of claim 26 , wherein said detecting step further comprises detecting whether said subject is homozygous for said mutation.