Table 4.
Frequencies of genotypes and alleles for variants in the LHCGR gene analyzed in XY DSD cases versus control group.
| Polymorphism (location) | XY DSD (n = 14) | Controls (n = 38) | Odds ratio (OR) and p-value |
|---|---|---|---|
| g.70455430C > G (5′-flanking, -23 bp upstream to TSS) | Genotype frequency |
OR = 2.1429 p = 0.2287 |
|
| CC | 0.71 | 0.82 | |
| CG | 0.21 | 0.18 | |
| GG | 0.07 | 0 | |
| Allele frequency | |||
| C | 0.82 | 0.91 | |
| G | 0.18 | 0.09 | |
| g.70455376delC (5′UTR, exon 1) | Genotype frequency |
OR = 2.9778 p = 0.0467 |
|
| ins/ins | 0.57 | 0.76 | |
| ins/del | 0.29 | 0.24 | |
| del/del | 0.14 | 0 | |
| Allele frequency | |||
| ins | 0.71 | 0.88 | |
| del | 0.29 | 0.12 | |
| g.70455334C > T p.Ala7Thr (exon 1) | Genotype frequency |
OR = 1.1325 p = 0.9398 |
|
| CC | 1 | 0.97 | |
| CT | 0 | 0.03 | |
| TT | 0 | 0 | |
| Allele frequency | |||
| C | 1 | 0.99 | |
| T | 0 | 0.01 | |
| g.70400960C > T p.Ala690Thr (exon 11) | Genotype frequency |
OR = 2.6825 p = 0.2142 |
|
| CC | 0.86 | 0.68 | |
| CT | 0.14 | 0.29 | |
| TT | 0 | 0.03 | |
| Allele frequency | |||
| C | 0.93 | 0.83 | |
| T | 0.07 | 0.17 | |