Observational Study
Copyright ©The Author(s) 2021.
World J Clin Cases. Feb 26, 2021; 9(6): 1318-1328
Published online Feb 26, 2021. doi: 10.12998/wjcc.v9.i6.1318
Table 1 Validation of the mutation sites in six patients with a sudden drop in heart rate during distilled water lavage
Mutation type
Chr
Start
End
Ref
Alt
Location
Gene name
FOC
Primers for sequencing (5’-3’)
Forward
Reverse
SNP
1chr142075738320757383AGUTR3TTC50/6CCAAAGAAGAGGAAGGACCTAAAGCTGTCTCTTCCACTGCTCTCTATGTT
2chr142081898320818983CTintronicPARP2-9200/6TTTATGAGTTGGCATTCAGAAAGTCGAAAGGTGAAAGGATTTAGGGAAC
3chr142082485920824859TCintronicPARP2-1560/6ATAAGAGGGAGTCAGAGGAAGGTGTAGCACTGAGAACATTACTGTATCCCT
4chr142083770120837701GCexonicTEP1-8860/6GTGTCTTTAGATGTGGTGTTGGCTTGGCAGAGTCCTCATTTTTGTGT
5chr142084116220841162CTintronicTEP1-09480/6CCTCTAACGCCCAGTAAATACACAGTCTCTTATCCCAGCAGTATCCCAG
6chr142084131320841313GAintronicTEP1-09480/6
7chr142084170720841707CTexonicTEP1-4490/6TATTCCGCATACCTTCCCCACCCCTGCTCCGTCCCTTCTT
8chr1617561781756178TCupstreamMAPK8IP30/6GGAAGCGACCACTGCCGCATCTGGATCTCCATCATCGC
9chr1781611498161149CTexonicPFAS0/6GAAAGCCTGTGTAACTCTGATTGCATTACTGGCTTCAATGGCAACC
10chr177362753973627539TCexonicRECQL50/6GCAATGTCCCTGATGTCCTACCCTGGAGCAAGACCTGCATCG
11chr213547029135470291-TUTR3SLC5A30/6CGAATGTGCTTGTGTGATACTTGTTGGCAGACTTGTTGGTCATTTCAG
12chr99869113798691137TCexonicERCC6L21/6CTTGATTACCGACGACTTGATGGATGTTGATAAAGGAAATGAGAGAAAAGC
Indel
13chr1780525268052532AAAAACA-intronicPER10/6TGAAACCCCGTCTCTACTGAAAATACTCCCTTAGTGGATTCTTCGCAG
14chr12133417982133417982-AAUTR3CHFR1/6GAAAGGCTTCGTCTCTGCTGCTGGAGGTGAAGAGAGCGTGTTT
Table 2 Baseline clinical information
Characteristics
HR decreased < 30% (n = 172)
HR deceased ≥ 30% (n = 22)
P value
Age (years), mean ± SD65.6 ± 9.165.8 ± 10.40.62
Sex, n (%)
Male72.759.10.2136
Female27.340.9
Smoking, n (%)14.04.60.3190
Drinking, n (%)7.000.3668
Hypertension, n (%)34.340.90.6361
Diabetes, n (%)8.113.60.4171
Hemodynamics before lavage, mean ± SD
Heart rate (bpm)61 ± 1062 ± 130.511
Diastolic pressure (mmHg)66 ± 1065 ± 120.6207
Systolic pressure (mmHg)122 ± 18119 ± 190.3159
Hemodynamics after lavage, mean ± SD
Heart rate (bpm)56 ± 1227 ± 20< 0.0001
Diastolic pressure (mmHg)76 ± 1453 ± 23< 0.0001
Systolic pressure (mmHg)141 ± 2492 ± 48< 0.0001
Change in heart rate (%), mean ± SD8.3 ± 12.459.3 ± 27.7< 0.0001
Change in diastolic pressure (mmHg), mean ± SD10.0 ± 13.1-11.8 ± 18.9< 0.0001
Change in systolic pressure (mmHg), mean ± SD17.5 ± 21.8-26.0 ± 41.5< 0.0001
Table 3 Allele frequency and genotype frequency in the two groups
Characteristics
HR decreased ≥ 30% (n = 22)
HR decreased < 30% (n = 172)
Fisher's P value
TEP1 (rs938886), n (%)
C14 (0.32)105 (0.31)0.8608
G30 (0.68)239 (0.70)
CC1 (0.05)16 (0.09)0.5022
CG12 (0.55)73 (0.42)
GG9 (0.41)83 (0.48)
HWE0.22780.9929
TEP1 (rs1713449), n (%)
C30 (0.68)236 (0.69)0.9546
T14 (0.32)108 (0.31)
CC9 (0.41)82 (0.48)0.4465
CT12 (0.55)72 (0.42)
TT1 (0.05)18 (0.11)
HWE0.22780.7110
RECQL5 (rs820196), n (%)
C16 (0.36)109 (0.32)0.5319
T28 (0.64)235 (0.68)
CC1 (0.05)19 (0.11)0.1292
CT14 (0.64)71 (0.41)
TT7 (0.32)82 (0.48)
HWE0.07870.5420
Table 4 Haplotype analysis
Items, n (%)
HR decreased ≥ 30% (n = 22)
HR decreased < 30% (n = 172)
Fisher's P value
Odds ratio (95%CI)
CTC0.00 (0.00)40.98 (0.12)0.0256010.000 (0.000-0.008)
CTT14.00 (0.32)64.02 (0.19)0.0429352.018 (1.012-4.025)
GCC16.00 (0.36)68.02 (0.20)0.0131612.293 (1.174-4.477)
GCT14.00 (0.32)167.98 (0.49)0.0292810.481 (0.246-0.939)
GTT0.00 (0.00)3.00 (0.01)--