From: The genetics and epidemiology of N- and O-immunoglobulin A glycomics
Locus coordinates | Mapped gene | Function | N. associated Glycans | Top glycan trait | Lead SNP | EA | OA | EAF | βTwinsUK | SETwinsUK | PTwinsUK | N/O-glyc | Glycosylation measurements [PMID] | Phenotypic trait/disease [PMID] | βQMDiab | SEQMDiab | PQMDiab | % Replicated |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
3:186705790–186782999 | ST6GAL1 | Sialyltransferase | 20 | LAGC_A2S | rs6764279 | A | C | 28.4 | -0.489 | 0.032 | 2.90 × 10−49 | N | IgG [29535710, 23382691, 28878392, 35332118, 32128391] Total plasma [31163085] | IgA nephropathy [26028593] | −0.459 | 0.073 | 8.80 × 10−10 | 42 |
5:95221337–95310985 | ELL2 | Transcription regulator | 4 | TPL_H5N5F1S2 | rs11744881 | T | A | 25.3 | -0.241 | 0.035 | 8.10 × 10−12 | N | IgG [28878392] | Multiple myeloma [26007630, 27363682] | −0.314 | 0.086 | 3.10 × 10−4 | 25 |
7:7194680–7290732 | C1GALT1 | Galactosyltransferase | 10 | HYT_H3N5F0S2 | rs10246303 | T | A | 40.4 | -0.297 | 0.032 | 1.30 × 10−20 | O | Serum galactose-deficient IgA1 levels in IgA nephropathy [33593824]; Lung function (FEV1/FVC) [30804560, 28166213] | -0.388 | 0.071 | 1.05 × 10−7 | 75 | |
7:150906453–150954562 | ABCF2 | Transporter | 3 | HYT_H3N5F0S1 | rs113810201 | G | A | 11.5 | -0.376 | 0.050 | 1.00 × 10−13 | N/O | IgG [23382691, 32128391, 35332118] | Multiple myeloma [27363682, 33875642] | −0.072 | 0.148 | 6.29 × 10−1 | 0 |
8:134509215–134535985 | ST3GAL1 | Sialyltransferase | 23 | HYT_H4N5F0S1 | rs6995270 | C | T | 49.9 | -0.396 | 0.032 | 3.20 × 10−33 | O | -0.507 | 0.068 | 1.20 × 10−12 | 89 | ||
9:33119241–33180813 | B4GALT1 | Galactosyltransferase | 6 | TPL_H5N4F1S2 | rs3780480 | T | G | 25.3 | -0.315 | 0.035 | 5.50 × 10−19 | N | IgG [29535710, 23382691, 28878392, 32128391] Total plasma [31163085] | −0.172 | 0.078 | 2.95 × 10−2 | 0 | |
9:101364062–101570336 | GALNT12 | N-acetylgalactosaminyltransferase | 5 | HYT_H4N6F0S2 | rs1137654 | T | A | 9.3 | -0.551 | 0.058 | 4.30 × 10−21 | O | −0.451 | 0.323 | 1.64 × 10−1 | 0 | ||
14:105966605–106019014 | TMEM121 | Transmembrane protein | 2 | SES_H4N5F1S1 | rs61983272 | C | G | 33.1 | 0.298 | 0.042 | 2. × 10−12 | N | IgG [35332118, 28878392, 32128391] | NA | ||||
17:79217478–79268562 | SLC38A10-CEP131-TEPSIN-NDUFAF8 | 5 | HYT_H4N6F0S4 | rs2659005 | T | C | 43.4 | 0.206 | 0.031 | 4.00 × 10−11 | O | IgG [32128391, 23382691] | 0.076 | 0.075 | 3.10 × 10−1 | 0 | ||
22:24135043–24179922 | SMARCB1 | Chromatin remodelling | 4 | TPL_H5N4F1S1 | rs9624334 | C | G | 13.5 | 0.301 | 0.045 | 3.80 × 10−11 | N | IgG [29535710, 23382691, 28878392, 35332118, 32128391] Total plasma [31163085] | 0.210 | 0.120 | 8.10 × 10−2 | 0 | |
22:39775156–39874314 | MGAT3 | N-acetylglucosaminyltransferase | 5 | LAGC_A2B | rs5757682 | T | G | 25.0 | 0.293 | 0.035 | 6.60 × 10−17 | N | IgG [29535710, 23382691, 32128391, 28878392, 35332118] | Factor VIII or von Willebrand factor [35285134, 30586737] | 0.294 | 0.079 | 2.29 × 10−4 | 100 |