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Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia? Cover

Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

Open Access
|Mar 2024

Figures & Tables

Frequency of allelic and genotypic polymorphisms in UGT1A1, SLCO1B1, SLCO1B3 and GSTP1 genes in case and control groups

Genotype frequency n (%)Allele frequency n (%)
  • UGT1A1

  • rs4148323 G71R

  • c.211A>G

A/AA/GG/GTotalAGTotal
IH49 (92.4)2(3.8)2(3.8)53 (100)100 (94)6(6)106(100)
Prolonged jaundice21 (77.8)6 (22.2)027(100)48 (89)6(11)54(100)
Control35 (92.1)3 (7.9)038(100)73 (96)3(4)76(100)
P 0.14 0.26
  • SLCOIBI

  • rs2306283

  • c.388A>G

A/AA/GG/GTotalAGTotal
IH17(27.8)35 (57.3)9(14.9)61(100)69(57)53 (43)122(100)
Prolonged jaundice7(25)13 (46.4)8 (28.6)28(100)27(48)29 (52)56(100)
Control19 (46.3)16 (39)6(14.7)41(100)54(66)28 (34)82(100)
P 0.09 0.11
  • rsl1045819

  • c.463C>A

C/CC/AA/ATotalCATotal
IH47 (77)13 (21.3)1 (1.7)61(100)107 (88)15 (12)122(100)
Prolonged jaundice20 (71.4)7(25)1 (3.6)28(100)47 (84)9(16)56(100)
Control32 (82)7(18)039(100)71(91)7(9)78 (100)
P 0.59 0.46
  • rsl1045819

  • c.521T>C

t nT/CC/CTotalTCTotal
IH38 (62.3)21 (34.4)2 (3.3)61(100)97(80)25 (20)122(100)
Prolonged jaundice21 (75)6(21.4)1 (3.6)28(100)48 (86)8 (14)56(100)
Control31(75.6)9(21.9)1 (2.5)41(100)71(87)11(13)82(100)
P 0.27 0.35
  • rs59502379 c.

  • 1463G>C

G/GG/CC/CTotalGCTotal
IH61 (100)0061(100)122(100)0122(100)
Prolonged jaundice28(100)0028(100)56(100)056(100)
Control P40 (100)0040 (100)80 (100)080(100)
  • SLC01B3

  • rs4149117

  • c.334T>G

T/TT/GG/GTotalTGTotal
IH2(3.4)13 (22.4)43 (74.2)58(100)17(15)99 (85)116(100)
Prolonged jaundice06(21.4)22 (78.6)28(100)6(11)50 (89)56(100)
Control03 (7.5)37(92.5)40(100)3(4)77 (96)80(100)
P 0.20 0.03
  • rsl7680137

  • c.727+118C>G

c/cC/GG/GTotalCGTotal
IH46 (75.4)11(18)4 (6.6)61(100)103 (94)19(16)122(100)
Prolonged jaundice19(67.8)7(25)2 (7.2)28 (100)45(80)11(20)56(100)
Control33 (80.5)7(17)1 (2.5)41 (100)73 (89)9(11)82(100)
P 0.49 0.36
  • rs2117032

  • c. 1865+19721C>T

C/CC/TT/TTotalCTTotal
IH17 (27.8)29 (47.5)15 (24.7)61(100)63 (52)59 (48)122(100)
Prolonged jaundice6 (21.4)13 (46.4)9 (32.2)28 (100)25 (45)31(55)56(100)
Control4 (9.7)21(51.2)16(39.1)41 (100)29 (35)53 (65)82(100)
P 0.07 0.07
GSTP1
  • rsl695

  • c.313A>G

A/AA/GG/GTotalAGTotal
IH28 (50.9)18 (32.7)9(16.4)55 (100)74(67)36 (33)110(100)
Prolonged jaundice12(42.8)13 (46.4)3 (10.8)28(100)37(66)19 (34)56(100)
Control18(45)19(47.5)3 (7.5)40 (100)55(69)25 (31)80 (100)
c 0.74 0.94
  • rsl138272

  • c.341C>T

C/CC/TT/TTotalCTTotal
IH48 (87.3)7(12.7)055 (100)103 (94)7(6)110(100)
Prolonged jaundice21 (75)7(25)028(100)49(88)7(12)56(100)
Control29 (72.5)11(27.5)040 (100)69(86)11(14)80(100)
P 0.15 0.19

Demographic characteristics of the study population

Idiopathic Hyperbilirubinemia (n:61)Prolonged jaundice (n:28)Control (n:41)P
Gestational age (weeks, mean± SD)38.1 ± 1.038.5 ± 1.038.8 ±1.0>0.05
Birth weight (g, mean ± SD)3145 ±3973154 ±3903322 ±416>0.05
Gender (Male/Female)30/3113/1520/21>0.05
Peak STB* level (mg/dl)19.3 ± 1.9-7.1 ±2.40.0001
Peak time of STB (days)5.2 ±1.9-5.1 ± 1.5>0.05
Feeding pattern (breast milk/breast milk+formula)56/526/237/4>0.05

Peak bilirubin levels and peak time of hyperbilirubinemia in the idiopathic hyperbilirubinemia group according to genotypic distributions

Genotype distributionP
  • UGT1A1

  • rs4148323 G71R c.211A>G

G/GAJGG/G
Mean peak bilirubin levels (mg/dL)19.4 ±2.120 ±2.819.7 ±1.30.87
Peak time of hyperbilirubinemia (day)5.1 ± 1.96 ± 1.48.5 ±3.50.06
  • SLCOIBI

  • rs2306283 c.388A>G

A/AAJGG/G
Mean peak bilirubin levels (mg/dL)18.8 ± 1.219.5 ±2.319.2 ±1.50.42
Peak time of hyperbilirubinemia (day)5.0 ±2.05.2 ±2.25.4 ± 1.10.89
  • rsl 1045819

  • c.463C>A

C/CC/AA/A
Mean peak bilirubin levels (mg/dL)19.2 ± 1.619.9 ± 2.917 ±00.28
Peak time of hyperbilirubinemia (day)5.1 ± 1.95.6 ± 2.45.0 ±0.00.74
  • rsl 1045819

  • c.521T>C

T/TT/CC/C
Mean peak bilirubin levels (mg/dL)19.3 ± 2.219.3 ± 1.518.1 ±0.90.67
Peak time of hyperbilirubinemia (day)5.5 ±2.14.7 ± 1.84.5 ±2.10.27
  • rs59502379

  • c.l463G>C

G/GG/CC/C
Mean peak bilirubin levels (mg/dL)19.4 ± 1.5---
Peak time of hyperbilirubinemia (day)5.2 ± 1.8---
  • SLC01B3

  • rs4149117 c.334T>G

T/TG/TG/G
Mean peak bilirubin levels (mg/dL)20.3 ±2.118.8 ± 1.119.4 ±2.20.49
Peak time of hyperbilirubinemia (day)6.0 ± 1.44.8 ±2.15.2 ±2.00.69
  • rsl7680137

  • e.727+118C>G

C/CC/GG/G
Mean peak bilirubin levels (mg/dL)19.3 ± 2.018.9 ± 1.419 ±2.40.77
Peak time of hyperbilirubinemia (day)5.3 ± 2.24.9 ± 0.95.2 ±2.60.84
  • rs2117032

  • c.l865f 19721C>T

C/CC/TT/T
Mean peak bilirubin levels (mg/dL)19.4 ± 2.319.8 ± 2.018.7 ± 1.10.19
Peak time of hyperbilirubinemia (day)5.0 ± 1.85.5 ± 2.34.8 ± 1.50.47
  • GSTP1

  • rsl695 c.313A>G

A/AAJGG/G
Mean peak bilirubin levels (mg/dL)19.8 ±2.119.2 ± 1.818.5 ± 1.60.25
Peak time of hyperbilirubinemia (day)5.5 ± 1.95.3 ± 2.44.4 ± 1.30.40
  • rsl 138272

  • c.341C>T

C/CC/TT/T
Mean peak bilirubin levels (mg/dL)19.4 ± 2.018.9 ± 1.4-0.50
Peak time of hyperbilirubinemia (day)5.2 ± 1.95.2 ± 2.6-0.98
Language: English
Page range: 51 - 58
Published on: Mar 12, 2024
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2024 N Hakan, M Aydin, S Ceylaner, D Dilli, A Zenciroğlu, N Okumuş, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.