Associations among PRDM16 polymorphisms, environmental exposure factors during mother’s pregnancy, and non-syndromic cleft lip with or without cleft palate

doi:10.7518/hxkq.2018.05.008

Abstract

Abstract:

Objective We aimed to study the association between rs7525173, rs2236518, rs2493264 single nucleotide poly-morphism (SNP) in the PRDM16 gene, smoking, alcohol exposures, and nonsyndromic cleft lip with or without cleft palate (NSCL/P). Methods A total of 157 case-parent trios were selected, and SNPs were genotyped by using ligase detection reaction (LDR) and direct sequencing methods. Transmission disequilibrium test (TDT) and linkage disequilibrium (LD) tests were con-ducted to analyze the data. A total of 1 710 patients with orofacial clefts and 956 healthy newborns were enrolled in the epide-miological survey. The smoking and drinking exposures of parents during early pregnancy were analyzed. Results The C allele at rs2236518 was over-transmitted for NSCPO (P<0.05). Statistical differences were observed among three factors, namely, maternal smoking, maternal passive smoking, and maternal drinking (P<0.05). Conclusion The rs2236518 at PRDM16 gene, maternal smoking, maternal passive smoking, and maternal drinking were closely related to the occurrence of NSCL/P.

Key words: nonsyndromic cleft lip with or without cleft palate, PRDM16 gene, single nucleotide polymorphism, trans-mission disequilibrium test, linkage disequilibrium

CLC Number:

R782.21

Bin Yin,Bing Shi,Zhonglin Jia. Associations among PRDM16 polymorphisms, environmental exposure factors during mother’s pregnancy, and non-syndromic cleft lip with or without cleft palate[J]. West China Journal of Stomatology, 2018, 36(5): 503-507.

Figures/Tables 7

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SNP	等位基因	PCR引物序列（5’—3’）	扩增长度/bp	探针序列
rs7525173	C/G	F：TCTGGCCAAGAAAACACCC	100	TTTTTTTTTTTTTTTTTTTTTTTTAAGTAGTTCAGAA-
				ACGCATCGGG
		R：TCACCCGCAGGCTCTTATTC		TTTTTTTTTTTTTTTTTTTTTTTTTTAAGTAGTTCAGA-
				AACGCATCGGC
rs2236518	A/C	F：CTTTTCAGCAGGAGCAGAAC	82	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGGGATC-
				CGGAGACCAACGGT
		R：AAAACGGCGGGATGGGACTG		TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGGGA-
				TCCGGAGACCAACGGG
rs2493264	C/T	F：GGCAGGGGACCACAATCCA	99	TTTTTTTTTTTTTTTTTTTTCGTATTTTAGACTCGAAG-
				CCTCG
		R：GTCTGCAAAACACTTGCCTG		TTTTTTTTTTTTTTTTTTTTTTCGTATTT

SNPs	D’值	95%可信区间	χ²值
rs7525173与rs2236518	0.035	-0.01,0.23	0.000
rs7525173与rs2493264	0.185	0.01,0.52	0.001
rs2236518与rs2493264	0.695	0.57,0.79	0.140

类型	SNP	等位基因	MAF	T/U	χ²值	P值
NSCL/P	rs7525173	G	0.10	28︰21	1.0	0.317 3
	rs2236518	C	0.42	56︰51	0.234	0.628 8
	rs2493264	T	0.18	36︰34	0.057	0.811 0
NSCLP	rs7525173	G	0.10	35︰28	0.778	0.377 8
	rs2236518	C	0.42	76︰67	0.566	0.451 7
	rs2493264	T	0.18	51︰47	0.163	0.686 2
NSCPO	rs7525173	G	0.10	7︰7	0.0	1.0
	rs2236518	C	0.42	25︰11	5.444	0.019 6
	rs2493264	T	0.18	15︰13	0.143	0.705 5

因素	病例组		对照组		χ²值	P值
因素	是	否	是	否	χ²值	P值
母亲吸烟	44	1 666	2	954	20.207	0.000
母亲被动吸烟	424	1 286	83	873	103.377	0.000
母亲饮酒	425	1 285	74	882	118.037	0.000
父亲吸烟	859	851	496	460	0.667	0.414
父亲饮酒	1 085	625	575	381	2.849	0.091

危险因素	P值	比值比	95%可信区间
母亲吸烟	0.000	12.598	3.047,52.081
母亲被动吸烟	0.000	3.468	2.700,4.455
母亲饮酒	0.000	3.942	3.035,5.119
父亲吸烟	0.414	0.936	0.799,1.097
父亲饮酒	0.092	1.150	0.978,1.353