Table 1.
Heterozygous SLC26A3 variants in infertile and control men.
| Exon No. | Sequence variation | Infertile men (n = 283) n (%) | Control men (n = 211) n (%) | P value | SNP identity | PolyPhen-2 class (score) |
|---|---|---|---|---|---|---|
| 3 | c.241 A > G (p.Ile81Val) | 1 (0.4) | 0 | rs116793431 | Benign (0.044) | |
| 4 | c.357 C > A (p.Phe119Leu) | 13 (4.6)a | 3 (1.4) | <0.05 | rs73419912 | Benign (0.003) |
| 8 | c.949_951delGTG (p.Val318del) | 3 (1.1) | 0 | rs121913029 | Finnish founder mutation for CLD | |
| 18 | c.2062 G > C (p.Asp688His) | 9 (3.2)a | 2 (0.9) | <0.05 | rs191547831 | Probably damaging (0.994) |
aOne subject was a compound heterozygote for p.Phe119Leu/p.Asp688His. The c.921 T > G (p.C307W) variant, a functionally neutral change always preceding the founder mutation c.949_951delGTG (p.Val318del) for CLD4,5 was common in both the infertile (8%) and control (14%) group and was excluded from the analysis. P values were calculated with one-tailed Chi-square test without Yates’ correction. Only P values < 0.05 are shown.