Association of soluble epoxide hydrolase 2 gene with the risk of non-syndromic cleft lip with or without cleft palate in western Han Chinese population

doi:10.7518/hxkq.2022.03.005

Abstract

Abstract: Objective

This study aimed to explore the associations between soluble epoxide hydrolase 2 gene (EPHX2) variants and non-syndromic cleft lip with or without cleft palate (NSCL/P) in Chinese Han population.

Methods

We recruited 159 NSCL/P cases from Chinese Han population and carried out targeted resequencing using the whole genome sequencing data of 542 healthy Chinese individuals from Novegene internal database as controls. We classified EPHX2 variants as common or rare according to their minor allele frequency and performed an association analysis for common variations and a burden analysis for rare variations.

Results

The lowest P-value in NSCL/P was observed at rs57699806 (P=0.000 13, OR=2.849 and 95% CI: 1.691-4.800), followed by rs4732723 (P=0.006 50, OR=0.662 and 95%CI: 0.491-0.892), rs7829267 (P=0.009 20, OR=1.496 and 95%CI: 1.117-2.005), rs721619 (P=0.011 00, OR=1.474 and 95%CI: 1.098-1.980), and rs7816586 (P=0.040 00, OR=1.310 and 95%CI: 1.015-1.691). The odds ratios suggested the C allele at rs4732723 as a protective factor for NSCL/P and the reference alleles at other single nucleotide polymorphisms (SNPs) as the risk factors for NSCL/P. Burden analysis showed no statistical significance (P>0.05).

Conclusion

Through targeted resequencing, this study identified five SNPs named rs57699806, rs4732723, rs7829267, rs721619, and rs7816586 around the region of EPHX2 gene associated with NSCL/P in Chinese Han population. Four SNPs of rs57699806, rs4732723, rs7829267, and rs7816586 were first identified.

Key words: targeted resequencing, single nucleotide polymorphism, soluble epoxide hydrolase 2 gene, non-syndromic cleft lip with or without cleft palate

CLC Number:

R 782.2

Yang Mengxi, Wang Yiru, Yin Bin, Zheng Qian, Shi Bing, Jia Zhonglin.. Association of soluble epoxide hydrolase 2 gene with the risk of non-syndromic cleft lip with or without cleft palate in western Han Chinese population[J]. West China Journal of Stomatology, 2022, 40(3): 279-284.

Figures/Tables 5

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表型	例数	性别
表型	例数	男	女	不详
合计	159	102	54	3
NSCLO	79	46	33	0
NSCLP	80	56	21	3

SNP	位置	功能区间	Ref	Alt	等位基因频率	病例组		对照组		P值	OR（95%CI）
SNP	（hg37）	功能区间	Ref	Alt	等位基因频率	Ref	Alt	Ref	Alt	P值	OR（95%CI）
rs57699806	27362587	外显子	G	A	8.50%	291	27	1044	34	0.000 13	2.849（1.691~4.800）
rs4732723	27407063	基因间	T	C	21.40%	250	68	764	314	0.006 50	0.662（0.491~0.892）
rs7829267	27392986	内含子	C	T	26.10%	235	83	877	207	0.009 20	1.496（1.117~2.005）
rs721619	27381996	内含子	C	G	25.50%	237	81	880	204	0.011 00	1.474（1.098~1.980）
rs7816586	27369334	内含子	A	G	61.00%	124	194	494	590	0.040 00	1.310（1.015~1.691）

转录因子	位置	Ref分数	Alt分数	匹配序列*
GATA_disc4	负链	1.1	13.1	KATCAGVT
Mxi1_known1	负链	11.9	10.7	VRNCABGTGV

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