Table 2 Enrichment analysis of health categories with respect to phecodes investigated across TTR mutations and ancestry groups. Expected phecodes are those that would have been associated in case of no enrichment. Overrepresentation tests were conducted with respect to ancestry-specific associations reaching nominal significance. Nominally significant results (p < 0.05) are reported. Findings surviving false discovery rate multiple testing correction (FDR q < 0.05) are indicated in bold. Details of all categories tested are available in Supplemental Table 6. AFR: African; AMR: Admixed-American; Central-South Asian; EAS: East Asian; EUR: European; MID: Middle Eastern
From: Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
Mutation (rsID) | Ancestry | Category | Phecodes associated in the category, N | Expected phecodes associated in the category, N | Fold-Enrichment | P | FDR q |
|---|---|---|---|---|---|---|---|
Ala81Thr (rs730881165) | EAS | Endocrine/Metabolic | 5 | 1 | 4.47 | 0.003 | 0.040 |
Neurological | 3 | 1 | 3.80 | 0.040 | 0.168 | ||
Pregnancy complications | 3 | 1 | 5.07 | 0.018 | 0.124 | ||
EUR | Circulatory system | 10 | 4 | 2.47 | 0.005 | 0.056 | |
Mental disorders | 5 | 2 | 2.89 | 0.026 | 0.124 | ||
Respiratory | 7 | 2 | 3.61 | 0.002 | 0.040 | ||
His90Asn (rs121918074) | CSA | Dermatologic | 2 | 0 | 28.00 | 0.001 | 0.040 |
EUR | Neoplasms | 8 | 3 | 3.09 | 0.003 | 0.040 | |
MID | Digestive | 8 | 4 | 2.15 | 0.021 | 0.124 | |
Mental disorders | 3 | 0 | 6.68 | 0.008 | 0.077 | ||
Symptoms | 3 | 1 | 4.45 | 0.025 | 0.124 | ||
Val122Ile (rs76992529) | AFR | Circulatory system | 9 | 3 | 2.96 | 0.002 | 0.040 |
Hematopoietic | 4 | 1 | 4.44 | 0.011 | 0.092 | ||
AMR | Neplasms | 2 | 0 | 7.78 | 0.020 | 0.124 | |
CSA | Genitourinary | 3 | 1 | 4.07 | 0.031 | 0.138 | |
MID | Genitourinary | 4 | 1 | 3.28 | 0.024 | 0.124 |