SCN1A rs6732655A/T polymorphism: Diagnostic and therapeutic insights for drug-resistant epilepsy

doi:10.5493/wjem.v14.i3.94999

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Sep 20, 2024 (publication date) through Aug 29, 2024

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World Journal of Experimental Medicine

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2220-315x

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Exp Med. Sep 20, 2024; 14(3): 94999
Published online Sep 20, 2024. doi: 10.5493/wjem.v14.i3.94999

Table 1 Primers for single nucleotide polymorphism analysis

SNP	Primers	Sequence	Restriction enzyme
rs6732655A/T	Forward primer	5’-CCAAATGGTGACACAGTGAA-3’	RsaI
rs6732655A/T	Reverse primer	5’-GCCTTGATCACTTGTAGGACTTTT-3’	RsaI

SNP: Single nucleotide polymorphism.

Table 2 Distribution of rs6732655 gene polymorphism

SNP	Allele type	*Drug resistant, n =* 50**	*Drug responsive, n =* 50**	χ²	P value
rs6732655	AA	9 (18)	5 (10)	2.538	0.281
	AT	17 (34)	24 (48)
	TT	24 (48)	21 (42)

Data are n (%). SNP: Single nucleotide polymorphism.

Table 3 Risk of drug resistance associated with rs6732655 genotypes

SNP	Genotype	OR	95%CI	P value
rs6732655	AA	0.62	0.264-1.456	0.27
	AT	1.58	0.456-5.444	0.47
	TT	Reference	Reference	Reference

CI: Confidence interval; OR: Odds ratio; Ref: Reference polymorphism in OR analysis; SNP: Single nucleotide polymorphism.

Table 4 Comparison of interleukin-1β, interleukin-6 and high mobility group box 1 protein in single nucleotide polymorphisms and alleles

Parameter	SNP	Allele type	*Drug resistant, n =* 50**	P value	*Drug responsive, n =* 50**	P value
IL-1β in pg/mL	rs6732655	AA	150.05 (114.35-194)	0.003^a	56.71 (48.97-57.77)	0.004^a
		AT	89.35 (81.55-105.22)		33.21 (15.18-40.68)
		TT	71.36 (25.80-126.67)		30.00 (14.34-42.25)
IL-6 in pg/mL	rs6732655	AA	29.06 (14.73-51.75)	0.001^a	5.02 (4.48-8.27)	0.005^a
		AT	6.89 (5.06-11.47)		2.95 (2.17-3.77)
		TT	5.61 (3.17-11.49)		2.82 (2.49-3.85)
HMGB-1 in ng/mL	rs6732655	AA	17.21 (15.56-26.23)	0.005^a	7.98 (7.14-8.68)	0.067
		AT	10.72 (9.85-11.92)		5.86 (4.11-6.91)
		TT	9.39 (7.89-19.92)		5.92 (3.94-7.87)

^aP < 0.05. P calculated by Kruskal Wallis test.

HMGB-1: High mobility group box 1 protein; IL-1β: Interleukin-1β; IL-6: Interleukin-6; SNP: Single nucleotide polymorphism.

Table 5 Receiver operating characteristic analysis of interleukin-1β and interleukin-6

Factor	AUC	Asymptotic 95%CI		Optimum cutoff	Sensitivity	Specificity	P value
Factor	AUC	Lower bound	Upper bound	Optimum cutoff	Sensitivity	Specificity	P value
IL-1β	0.880	0.808	0.952	59.52	80.0%	100%	< 0.001
IL-6	0.869	0.795	0.943	4.63	86.0%	86.0%	< 0.001

AUC: Area under curve; CI: Confidence interval; IL-1β: Interleukin-1β; IL-6: Interleukin-6.

Citation: Viswas A, Dabla PK, Shrivastav D, Gupta S, Yadav M, Yadav S, Koner BC. SCN1A rs6732655A/T polymorphism: Diagnostic and therapeutic insights for drug-resistant epilepsy. World J Exp Med 2024; 14(3): 94999
URL: https://www.wjgnet.com/2220-315x/full/v14/i3/94999.htm
DOI: https://dx.doi.org/10.5493/wjem.v14.i3.94999