Table 1 of Melki, Mol Vis 2005; 11:1012-1017.


Table 1. Allele frequencies of CYP1B1 SNPs in 224 POAG patients and 47 controls

Six common variants were genotyped in the CYP1B1 gene, one (2805T>C) in the promoter region and the other five in the coding region. They show similar allele frequencies in patients and in controls. The first allele and the position correspond to the consensus sequence (CYP1B1 EMBL/Genbank: U56438). Except for the 2805 position, the variant allele is the minor one.

                          Sample sizes (%)
          Nucleotide   ----------------------
Variant     change      Patients    Controls
-------   ----------   ----------   ---------
2805T>C    2805T>C     340 (75.9)   74 (78.7)
R48G       3947C>G     112 (25)     21 (22.3)
A119S      4160G>T     122 (27.2)   21 (22.3)
L432V      8131C>G     202 (45.1)   39 (41.5)
D449D      8184C>T     194 (43.3)   38 (40.4)
N453S      8195A>G      98 (21.9)   22 (23.4)

Melki, Mol Vis 2005; 11:1012-1017 <http://www.molvis.org/molvis/v11/a121/>
©2005 Molecular Vision <http://www.molvis.org/molvis/>
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