Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects

Seo, Heewon; Kwon, Eun Jin; You, Young-Ah; Park, Yoomi; Min, Byung Joo; Yoo, Kyunghun; Hwang, Han-Sung; Kim, Ju Han; Kim, Young Ju

doi:10.1186/s12920-018-0323-4

Table 2 Genes significantly associated with ritodrine-induced side effects

From: Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects

Gene symbol	Gene name	FDR	P	G (mean ± SD)		Gene functional category
Gene symbol	Gene name	FDR	P	Case, (n = 13)	Control, (n = 30)	ION	ATP	Ca²⁺	CP	PK
AASDH	Aminoadipate-Semialdehyde Dehydrogenase	0.019104	0.000041	0.16 ± 0.19	0.58 ± 0.44		✓	✓
ARMC9	Armadillo Repeat Containing 9	0.025396	0.000057	0.06 ± 0.03	0.44 ± 0.46				✓
B9D2	B9 Protein Domain 2	0.012597	0.000017	0.25 ± 0.33	0.82 ± 0.36				✓
BLK	B lymphoid tyrosine kinase	0.007009	0.000004	0.16 ± 0.00	0.58 ± 0.43		✓
CARS2	Cysteinyl-TRNA Synthetase 2, Mitochondrial (Putative)	0.068711	0.000227	0.23 ± 0.35	0.73 ± 0.43	✓	✓
CD1A	CD1a Molecule	0.061968	0.000192	0.35 ± 0.37	0.86 ± 0.33
CSPG5	Chondroitin Sulfate Proteoglycan 5 (Neuroglycan C)	0.075577	0.000336	0.24 ± 0.00	0.49 ± 0.36
CYP1A1	Cytochrome P450, Family 1, Subfamily A, Polypeptide 1	0.065067	0.000209	0.03 ± 0.03	0.36 ± 0.46	✓		✓		✓
CYP8B1	Cytochrome P450, Family 8, Subfamily B, Polypeptide 1	0.012973	0.000020	0.45 ± 0.09	0.71 ± 0.26	✓				✓
FAT4	FAT Atypical Cadherin 4	0.092483	0.000539	0.23 ± 0.10	0.43 ± 0.28	✓		✓
FUT6	Fucosyltransferase 6 (Alpha (1,3) Fucosyltransferase)	0.051144	0.000147	0.14 ± 0.04	0.46 ± 0.42
GALNT10	Polypeptide N-Acetylgalactosaminyltransferase 10	0.092483	0.000549	0.35 ± 0.21	0.66 ± 0.35	✓
HHATL	Hedgehog Acyltransferase-Like	0.076828	0.000369	0.27 ± 0.11	0.50 ± 0.30
IFT74	Intraflagellar Transport 74	0.011408	0.000014	0.25 ± 0.10	0.56 ± 0.32				✓
ICE1	Interactor Of Little Elongation Complex ELL Subunit 1	0.014088	0.000026	0.49 ± 0.08	0.70 ± 0.23
KNDC1	Kinase Non-Catalytic C-Lobe Domain (KIND) Containing 1	0.099453	0.000617	0.34 ± 0.03	0.53 ± 0.29
NKAIN3	Na+/K+ Transporting ATPase Interacting 3	0.014088	0.000026	0.21 ± 0.08	0.56 ± 0.40			✓
OR6B1	Olfactory Receptor, Family 6, Subfamily B, Member 1	0.092483	0.000562	0.28 ± 0.02	0.50 ± 0.33
PSMD9	Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 9	0.092483	0.000511	0.43 ± 0.40	0.91 ± 0.25
PXT1	Peroxisomal, Testis Specific 1	0.075577	0.000336	0.02 ± 0.00	0.35 ± 0.47
RBBP8NL	RBBP8 N-Terminal Like	0.092483	0.000564	0.21 ± 0.25	0.58 ± 0.43
RSPH3	Radial Spoke 3 Homolog (Chlamydomonas)	0.012770	0.000018	0.27 ± 0.07	0.61 ± 0.37				✓
SERPINA7	Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 7	0.077599	0.000400	0.31 ± 0.48	0.90 ± 0.30					✓
SLC12A7	Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 7	0.051144	0.000148	0.36 ± 0.04	0.60 ± 0.31	✓
SPTA1	Spectrin, Alpha, Erythrocytic 1	0.008266	0.000007	0.32 ± 0.08	0.49 ± 0.15	✓		✓
TNKS	Tankyrase, TRF1-Interacting Ankyrin-Related ADP-Ribose Polymerase	0.077599	0.000401	0.38 ± 0.19	0.68 ± 0.33	✓
ZDHHC12	Zinc Finger, DHHC-Type Containing 12	0.075577	0.000332	0.17 ± 0.15	0.41 ± 0.27	✓
ZNF273	Zinc Finger Protein 273	0.092483	0.000527	0.10 ± 0.05	0.38 ± 0.42	✓

FDR false discovery rate, G gene deleteriousness score, ION ion binding, ATP adenosine triphosphate binding, Ca²⁺ calcium-related, CP ciliopathy, PK pharmacokinetics–relate

Back to article page

ISSN: 1755-8794

Contact us

Submission enquiries: bmcmedicalgenomics@biomedcentral.com
General enquiries: ORSupport@springernature.com

BMC Medical Genomics

Contact us