Table 1.
Cosegregation of BLK, KLF11, and PAX4 published variants with diabetes
| Gene | No. pedigree used in analysis | Variants (reference no.) | Combined LOD score | No. of family members with diabetes and variant/total no. of family members with diabetes and genotype information | Proportion of family members with diabetes and variant (95% CI) | Binomial test P value (against expected proportion of 0.5) |
|---|---|---|---|---|---|---|
| BLK | 1 | p.A71T (7) | 1.16 | 9/10 | 0.9 (0.55–1) | 0.02 |
| KLF11 | 3 | p.A347S (9), p.T220M (9)† | 1.2 | 2/4 | 0.5 (0.068–0.93) | 1 |
| PAX4 | 1 | p.R164W (8) | — | 2/2 | 1 (0.16–1) | 0.5 |
| HNF1A | 7 | p.G292Rfs*25 (21), p.P447L (21), p.V380Sfs*4 (21), p.E548Rfs*112 (21), p.R131Q (21), c.1768 + 1G>A (21), c.1108-2A>G (21) | 9.63 | 38/39 | 0.97 (0.87–1) | 1.4 × 10−10 |
| HNF4A | 2 | p.Q255* (43), p.R141* (43) | 15.05 | 49/50 | 0.98 (0.89–1) | 9 × 10−14 |
Table shows the LOD scores and association of variants with diabetes in family members for variants where there were families with three or more people with the variant. We used author-provided LOD scores where available for the first published variants, which suggested the causal role of those variants in MODY. If the LOD score was not provided, we calculated it based on the Gene Clinical Validity Curation Process Standard Operating Procedure (19). We summed the LOD score for each pedigree to calculate the combined LOD score.
†
Two pedigrees with p.T220M were included in the combined LOD score calculation.