Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

Table 2

Haplotypes of the alleles with the variants found in the 3′UTR of the CYP21A2 gene.

Haplotypes	Female; controls; ()	Female; controls (%)	Hyperandrogenic; females with no; mutation ()	Hyperandrogenic; females with no; mutation (%)	CYP21A2; heterozygotes; ()	CYP21A2; heterozygotes; (%)
0	62	41.3	55	61.1	8	12.1
1	12	8.0	1	1.1	29^¥	43.9
2	28	18.7	16	17.8	11	16.7
3	21	14.0	8	8.8	0	0
4	8	5.3	1	1.1	9^§	13.7
5	6	4.0	0	0	3	4.5
6	9	6.0	4	4.4	3	4.5
7	4	2.7	3	3.3	0	0
8	0	0	2	2.2	3	4.5

0 = no variants; 1 = 52C>T, 440C>T, 443T>C; 2 = 52C>T; 3 = 368T>C, 390A>G, 440C>T, 443T>C, 464T>C, 474C>T; 4 = 12C>T, 52C>T; 5 = 52C>T, 368T>C, 390A>G, 440C>T, 443T>C, 464T>C, 474C>T; 6 = 176C>T; 7 = 13G>A; 8 = 93G>A, 368T>C, 390A>G, 440C>T, 443T>C, 464T>C, 474C>T, 496C>T.
^¥All 29 females were heterozygote for p.Val281Leu, and all shared the same 52C>T, 440C>T, and 443T>C combination of variants.
^§All 9 females were heterozygote for p.Gln318, and all shared the same 12C>T and 52C>T combination of variants.