Table 1.
Observed sequence variations in the MERIT40 gene
| Location | Nucleotide change | Effect on protein | rs number | Frequency of heterozygotes, % (n/N) | P (OR; 95% CI) | |
|---|---|---|---|---|---|---|
| Familial cases | Controls | |||||
| Exon 3 | c.342C > T | Asn114Asn | – | 4.0 (5/125) | 3.7 (7/192) | 1.0 (1.1; 0.3–3.6) |
| Intron 3 | c.344 + 41A > T | – | rs10420922 | 49.6 (62/125) | 44.3 (85/192) | 0.4 (1.2; 0.8–1.9) |
| Exon 4 | c.393C > T | Phe131Phe | – | 0.8 (1/125) | 1.6 (3/192) | 1.0 (0.5; 0.1–4.9) |
| Intron 8a | c.787 − 6C > T | – | rs10406920 | 39.2 (49/125) | 37.5 (72/192) | 0.8 (1.1; 0.7–1.7) |
| Exon 9 | c.821A > G | Lys274Arg | – | 1.6 (2/125) | 1 (2/192) | 0.6 (1.5; 0.2–11.1) |
| Exon 9a | c.837G > A | Lys279Lys | rs8170 | 39.2 (49/125) | 37.5 (72/192) | 0.8 (1.1; 0.7–1.7) |
| Exon 9b | c.*87G > A | – | – | 0.8 (1/125) | − (0/192) | 0.4 (1.0; 0.98–1.01) |
The following sequence information was used: NC_000019 (genomic DNA), NM_001033549.1 (mRNA), and NP_001028721 (protein) OR odds ratio, CI confidence interval
a
rs10406920 and rs8170 were in linkage
b
3′UTR change