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Table 5 SNPs exhibiting significant differences in allelic and genotypic distribution

From: Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies

Group

 

Allelic association

Genotypic association

SNP ID (A1/A2)

C P

BFP

BHP

OR (CI) for A1

OR (CI) for A2

C P

BFP

BHP

Father of DS proband (N = 91)

rs711 (G/A)

0.019

0.209

0.215

0.622 (0.417-0.928)

1.608 (1.078-2.398)

0.002

0.022

0.022

Mother of DS proband (N = 118)

rs711 (G/A)

0.00198

0.02178

0.022

0.56 (0.387-0.810)

1.785 (1.234-2.581)

0.001

0.011

0.011

DS proband (N = 132)

rs2070530 (C/G)

0.892

1

0.892

1.024 (0.729-1.438)

0.977 (0.695-1.372)

0.003

0.033

0.015

rs1051475 (T/C)

0.314

1

0.576

0.829 (0.576-1.194)

1.206 (0.837-1.736)

0.026

0.286

0.057

rs1051476 (C/G)

0.231

1

0.527

0.801 (0.557-1.152)

1.249 (0.868-1.796)

0.014

0.154

0.039

rs11254 (C/T)

0.04712

0.51832

0.259

1.487 (1.004-2.201)

0.673 (0.454-0.996)

0.0001

0.0011

0.001

rs711 (G/A)

0.00352

0.03872

0.039

1.858 (1.221-2.828)

0.538 (0.354-0.819)

0.004

0.044

0.015

ALL (N = 38)

rs2269188 (G/C)

0.01185

0.13035

0.065

2.17 (1.175-4.008)

0.461 (0.250-0.851)

0.041

0.451

0.226

rs711 (G/A)

0.00895

0.09845

0.065

2.617 (1.245-5.501)

0.382 (0.182-0.803)

0.02

0.22

0.220

BC (N = 49)

rs711 (G/A)

0.00165

0.01815

0.018

0.469 (0.291-0.755)

2.133 (1.324-3.437)

0.002

0.022

0.022

OC (N = 54)

rs711 (G/A)

0.04993

0.54923

0.549

1.758 (0.995-3.105)

0.569 (0.322-1.005)

0.091

1

0.686

  1. BFP = Bonferroni P value, BHP = Benjamini-Hochberg P value, CP = Crude P value, CI = 95% Confidence Interval, OR = Odds Ratio.
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BMC Medical Genetics

ISSN: 1471-2350

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