Skip to main content

Table 1 Tests for additional allelic or genotypic effect on association of p.L444P and p.N370S with severity of Gaucher disease

From: Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

 

ALLELIC

GENOTYPIC

GBA2 SNP

POShg18

MA

MAFco

MAFca

P single

P L444P

P N370S

P L444P

P N370S

rs10814274

35724942

T

0.494

0.479

0.811

0.3971

0.1444

0.0585

0.3160

rs34312177

35730649

T

0.067

0.057

0.769

0.0213

0.3679

0.0650

0.5723

rs3833700

35738696

T

0.302

0.292

0.847

0.3050

0.4095

0.0197

0.7977

rs1570246

35738843

A

0.494

0.479

0.811

0.3971

0.1444

0.0585

0.3160

rs3750434

35738985

T

0.500

0.479

0.739

0.4098

0.1445

0.0620

0.3213

rs1570247

35739264

T

0.500

0.500

1.000

0.4339

0.3288

0.0735

0.4953

rs2236288

35739837

G

0.186

0.219

0.518

0.0895

0.9200

0.1329

0.7770

rs1570249

35741250

T

0.494

0.479

0.811

0.3971

0.1444

0.0585

0.3160

rs2145923

35742243

C

0.157

0.125

0.480

0.6267

0.2096

0.3936

0.3599

rs1322045

35742487

C

0.300

0.292

0.880

0.3138

0.4113

0.0205

0.7973

rs1570250

35742683

T

0.302

0.292

0.847

0.3050

0.4095

0.0197

0.7977

rs34478611

35743925

T

0.204

0.229

0.622

0.8899

0.6611

0.1400

0.4579

rs4878628

35744491

T

0.234

0.234

0.998

0.2716

0.6676

0.0058

0.7601

rs10814275

35748564

G

0.155

0.117

0.408

0.1883

0.4275

0.3808

0.7907

rs1570248

35756549

G

0.302

0.292

0.847

0.3050

0.4095

0.0197

0.7977

rs10972579

35766001

T

0.055

0.106

0.118

0.1054

0.6855

0.0344

0.8601

rs10972581

35769559

T

0.471

0.479

0.900

0.9124

0.2853

0.2255

0.3993

  1. MA Minor Allele, MAF co frequency of MA in patients with type 1 GD, MAF ca frequency of MA in patients with type 2/3 GD, P single p-value for logistic regression single-marker analysis, P L444P and P N370S P-values (uncorrected) for additional allelic and genotypic effect of GBA2 SNP on p.L444P and p.N370S association, respectively. P-values are in bold in case they reach the level of nominal significance (P < 0.05).