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Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients

L Aidinidou
L Aidinidou
, 
A Chatzikyriakidou
A Chatzikyriakidou
, 
A Giannopoulos
A Giannopoulos
, 
V Karpa
V Karpa
, 
I Tzimou
I Tzimou
, 
E Aidinidou
E Aidinidou
 and 
L Fidani
L Fidani
   | Jul 27, 2021
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Article Category: Original Article
Published Online: Jul 27, 2021
Page range: 15 - 20
DOI: https://doi.org/10.2478/bjmg-2021-0014
Keywords
© 2021 Aidinidou L, Chatzikyriakidou A, Giannopoulos A, Karpa V, Tzimou I, Aidinidou E, Fidani L, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Model of analysis of NFKB1 rs28362491, NKX2-5 rs2277923, GATA4 rs11785481 and RANKL rs4531631 gene polymorphisms in patients with congenital heart disease and control subjects.

Locus Model of Analysis Cases (n=43) Controls (n=100) OR (95% CI) p Value Corrected p Valuea
rs4531631 risk per allele: RR (%) 33 (77.0) RR (%) 68 (68.0) 0.61 (0.28-1.32) 0.208 0.554
Referenceb: G 0; 1; 2 RV (%) 10 (23.0) RV (%) 29 (29.0)
Variantc: A VV (%) 0 (0.0) VV (%) 3 (3.0)
VV vs. RR RR 33 RR 68 0.29 (0.02-5.82) 0.550 0.554
VV 0 VV 3
RV vs. RR RR 33 RR 68 0.71 (0.31-1.63) 0.419 0.554
RV+VV vs. RR RV RR 10 33 RV RR 29 68 0.64 (0.28-1.47) 0.292 0.554
RV+VV 10 RV+VV 32
VV vs. RV+RR RR+RV 43 RR+RV 97 0.32 (0.02-1.47) 0.554 0.554
VV 0 VV 3
V vs. R R (%) 76 (88.0) R (%) 165 (82.5) 0.62 (0.29-1.32) 0.211 0.554
rs2277923 risk per allele: V (%) RR (%) 10 (12.0) 7 (16.0) V (%) RR (%) 35 (17.5) 7 (7.0) 0.42 (0.24-0.76) 0.004 0.008
Referenceb: G 0; 1; 2 RV (%) 26 (61.0) RV (%) 44 (44.0)
Variantc: A VV (%) 10 (23.0) VV (%) 49 (49.0)
VV vs. RR RR 7 RR 7 0.20 (0.06-0.71) 0.015 0.023
RV vs. RR VV RR 10 7 VV RR 49 7 0.59 (0.19-1.87) 0.369 0.369
RV 26 RV 44
RV+VV vs. RR RR 7 RR 7 0.39 (0.13-1.18) 0.123 0.148
RV+VV 36 RV+VV 93
VV vs. RV+RR RR+RV 33 RR+RV 51 0.32 (0.14-0.71) 0.004 0.008
V vs. R VV R (%) 10 40 (46.5) VV R (%) 49 58 (29.0) 0.47 (0.28-0.79) 0.004 0.008
V (%) 46 (53.5) V (%) 142 (71.0)
rs11785481 risk per allele: RR (%) 36 (84.0) RR (%) 77 (77.0) 0.65 (0.26-1.66) 0.365 0.395
Referenceb: C 0; 1; 2 RV (%) 7 (16.0) RV (%) 23 (23.0)
Variantc: T VV (%) 0 (0.0) VV (%) 0 (0.0)
VV vs. RR RR 36 RR 77 NA NA NA
VV 0 VV 0
RV vs. RR RR 36 RR 77 0.65 (0.26-1.66) 0.365 0.395
RV 7 RV 23
RV+VV vs. RR RR 36 RR 77 0.65 (0.26-1.66) 0.365 0.395
VV vs. RV+RR RV+VV RR+RV 7 43 RV+VV RR+RV 23 100 NA NA NA
VV 0 VV 0
V vs. R R (%) 79 (92.0) R (%) 177 (88.5) 0.68 (0.28-1.66) 0.395 0.395
V (%) 7 (8.0) V (%) 23 (11.5)
rs29362491 risk per allele: RR (%) 11 (26.0) RR (%) 9 (9.0) 0.37 (0.19-0.70 0.003 0.009
Referenceb: D 0; 1; 2 RV (%) 27 (63.0) RV (%) 61 (61.0)
Variantc: I VV (%) 5 (12.0) VV (%) 30 (30.0)
VV vs. RR RR 11 RR 9 0.14 (0.04-0.50) 0.001 0.006
VV 5 VV 30
RV vs. RR RR 11 RR 9 0.36 (0.13-0.98) 0.040 0.040
RV+VV vs. RR RV RR 27 11 RV RR 61 9 0.29 (0.11-0.76) 0.009 0.014
RV+VV 32 RV+VV 91
VV vs. RV+RR RR+RV 38 RR+RV 70 0.31 (0.11-0.86) 0.019 0.023
VV 5 VV 30
V vs. R R (%) 49 (57.0) R (%) 79 (39.5) 0.49 (0.30-0.82) 0.006 0.012
V (%) 37 (43.0) V (%) 121 (60.5)

Primer sequences of NFKB1 rs28362491, NKX2-5 rs2277923, GATA4 rs11785481 and RANKL rs4531631 gene polymorphisms.

Locus Primer Sequences (5’>3’) Products (bp) Annealing Tm (°C) Endonuclease
rs28362491 F: TGG GCA CAA GTC GTT TAT GAR: CTG GAG CCG GTA GGG AAG 281285 62 PfIMI
rs2277923 F: CTG CCC GGA CAC ATC CAGR: GTA GGC CTC TGG CTT GAA GG 301 62 BpmI
rs11785481 F: CTC CTC CTA GCC CTT GGT CAR: ATC AGG GGC AGA AAC AGC A A 261 60 HypCH4III
rs4531631 F: CTG GAA GGC TGG CAG TAC TTTR: TTC CTG CAC ATA GTA GGC TCT T 210 62 ECoRV
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