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Genetic Variants in Circadian Rhythm Genes and Self-Reported Sleep Quality in Women with Breast Cancer Cover

Genetic Variants in Circadian Rhythm Genes and Self-Reported Sleep Quality in Women with Breast Cancer

Open Access
|Jul 2019

Figures & Tables

Table 1

Study population characteristics, n = 60.

VariableCategories
Age, mean ± SD58.6 ± 13.6
Ethnicity
  White53 (88.3%)
  Non-White7 (11.7%)
Hispanic
  Yes1 (1.9%)
  No53 (89.1%)
Marital Status*
  Partnered37 (62.7%)
  Non-Partnered22 (37.3%)
Education*
  ≤ High school14 (25.9%)
  Some College19 (35.2%)
  ≥ College21 (38.9%)
Income*
  < 25k13 (23.2%)
  25k to 75k22 (39.3%)
  > 75k21 (37.5%)
Ever Worked Night Shift*
  Yes11 (4.0%)
  No14 (56.0%)
Alcohol Drinks/Week*
  <1/week22 (51.2%)
  1 day/week7 (16.3%)
  2–3 days/week8 (18.6%)
  4–5 days/week4 (9.3%)
  6–7 days/week2 (4.7%)
Current Smoker*
  Yes5 (27.8%)
  No13 (72.2%)
Stage of Breast Cancer*
  I24 (40.7)
  II24 (40.7)
  III10 (16.9)
  IV1 (1.7)

[i] * missing data.

jcr-17-184-g1.png
Figure 1

STROBE (Strengthening the Reporting of Observational studies in Epidemiology) diagram. Individuals were excluded from analysis for missing PSQI and genetic variant data and a MAF < 5%.

Table 2

Top 25 genetic variants associated with PSQI (p-value < 0.1).

IDChromosome #Chromosome LocationGene NameVariant Annotation
rs3841571chr2101582245NPAS2Deletion/Insertion
rs1053095chr2101612584NPAS23’UTR
rs7604810chr2239061627KLHL30Intergenic
rs4459687chr2239203368ncRNA/PER2Intronic SNV
rs1714416chr340150543MYRIPIntronic SNV
rs7627014chr340309316EIF1B-AS1Intronic SNV
(Near MYRIP)
rs908078chr35024771BHLHE40Synonymous
rs2249436chr35019764BHLHE40Intronic SNV
rs34870629chr35025650BHLHE403’UTR
rs34883305chr35025645BHLHE403’UTR
rs74439275chr35025654BHLHE403’UTR
rs2110585chr5133512621SKP15’ UTR SNV
rs3815506chr5133509736SKP1Intronic SNV
rs73791514chr5133509752SKP1Intronic SNV
rs1058023chr5133483382TCF73’ UTR
(Near SKP1)
rs243477chr7148456154CUL1Intronic SNV
rs10746964chr977245494RORBIntronic SNV
rs7939846chr1113303337ARNTLIntronic SNV
rs4963957chr1226280533SSPNIntronic SNV
(Near BHLHE41)
rs61376834chr1256814656TIMELESSMissense Ile/Thr
rs605153chr1377569901CLN5Intronic SNV
(Near FBXL3)
rs5822477chr1780200398CSNK1DDeletion/Insertion
rs56408410chr178052415PER1Intronic SNV
rs5757055chr2238740853CSNK1EIntronic SNV
rs35351192chr2238740868CSNK1EInsertion/Deletion

[i] Abbreviations: CSNK1D: casein kinase 1 delta; SKP1: S-phase kinase associated protein 1; BHLHE40: basic helix-loop-helix family member e40; TCF7: transcription factor 7 (T-cell specific, HMG-box); NPAS2: neuronal PAS domain protein 2; ARNTL: aryl hydrocarbon receptor nuclear translocator like; MYRIP: myosin VIIA and Rab interacting protein; SSPN: sarcospan; EIF1B-AS1: EIF1B antisense RNA1; KLHL30: kelch like family member 30; CLN5: ceroid-lipofuscinosis, neuronal 5; FBXL3: FBOX leucine rich repeat protein 3; CUL1: cullin 1; RORB: RAR related orphan receptor B; PER1: period circadian clock 1; nc: non-coding; SNV: single nucleotide variation; UTR: untranslated region; PSQI: Pittsburgh Sleep Quality Index.

Table 3

Association of genetic variants with PSQI scores.

IDMajor/Minor GenotypesMAFPSQI Scorep-value
(Log Mean ± SD)
ReferenceAlternative
rs5822477TT/TTCTC0.0501.84 ± 0.570.96 ± 0.910.0015
rs2110585CC/CA0.0581.84 ± 0.571.06 ± 0.900.0025
rs3815506AA/AG0.0501.83 ± 0.571.01 ± 0.970.0028
rs73791514AA/AT0.0501.83 ± 0.571.01 ± 0.970.0028
rs2249436TT/TC0.0501.83 ± 0.591.01 ± 0.830.0029
rs1058023CC/CT0.0921.86 ± 0.541.25 ± 0.920.0041
rs3841571A/AG….GGGG0.0501.68 ± 0.642.38 ± 0.460.013
rs7939846GG/GA0.0751.84 ± 0.641.26 ± 0.590.014
rs1714416TT/TC0.0501.82 ± 0.611.15 ± 0.800.018
rs908078TT/TC0.1081.65 ± 0.652.13 ± 0.580.018
rs4963957TT/TC0.0751.83 ± 0.611.29 ± 0.760.022
rs5757055CC/CG0.1581.62 ± 0.662.03 ± 0.570.023
rs7627014AA/AT0.0581.68 ± 0.662.26 ± 0.310.028
rs1053095TT/TA0.2171.91 ± 0.631.54 ± 0.640.030
rs7604810GG/GA0.1421.87 ± 0.521.46 ± 0.880.030
rs61376834AA/AG0.0751.67 ± 0.682.18 ± 0.320.033
rs605153GG/GA0.1171.85 ± 0.531.44 ± 0.930.042
rs243477CC/CT0.0581.81 ± 0.621.28 ± 0.790.042
rs35351192ACAC/ACA0.0581.69 ± 0.672.22 ± 0.260.046
rs4459687TT/TC0.0501.80 ± 0.631.32 ± 0.820.088
rs10746964TT/TC0.0501.80 ± 0.601.32 ± 1.010.088
rs56408410GG/GA0.0831.69 ± 0.622.07 ± 0.80.089
rs34870629GG/GT0.0921.68 ± 0.692.05 ± 0.360.099
rs34883305GG/GC0.0921.68 ± 0.692.05 ± 0.360.099
rs74439275GG/GA0.0921.68 ± 0.692.05 ± 0.360.099

[i] Abbreviations: MAF: minor allele frequency; PSQI: Pittsburgh Sleep Quality Index.

jcr-17-184-g2.png
Figure 2

Known and Predicted Gene Networks. Identified genes with variants associated with PSQI were entered into String Version 10.5 to determine interacting gene networks. Line thickness indicates strength of data support.

DOI: https://doi.org/10.5334/jcr.184 | Journal eISSN: 1740-3391
Language: English
Submitted on: May 10, 2019
Accepted on: Jun 5, 2019
Published on: Jul 1, 2019
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2019 Tricia D. LeVan, Peng Xiao, Gaurav Kumar, Kevin Kupzyk, Fang Qiu, David Klinkebiel, James Eudy, Kenneth Cowan, Ann M. Berger, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.