维生素D受体基因ApaI、FokI、TaqI、Tru9I位点单核苷酸多态性与桥本氏甲状腺炎的相关性

The Relationship between Vitamin D Receptor(VDR) Gene ApaI,FokI,TaqI,Tru9I Single Nucleotide Polymorphism and Hashimoto's Thyroiditis

目的探讨VDR基因Apa I、Fok I、Taq I、Tru9I单核苷酸多态性与桥本氏甲状腺炎的相关性.方法应用Taq Man荧光探针技术,对139例桥本氏甲状腺炎患者(HT组)和66例健康对照者(NT组)的VDR基因Apa I、Fok I、Taq I、Tru9I位点SNP进行检测,比较和分析各组间基因型频率和等位基因频率以及相关临床资料.结果 (1)个旧地区人群中血25(OH)D水平基线仅为(18.45±7.60)ng/m L;(2)HT组25(OH)D水平[(17.66±7.91)ng/m L]较NT组[(20.13±6.65)ng/m L]低,虽然NT组(42.42%)25(OH)D不足的比例高于HT组(22.30%,P=0.003),但HT组(70.51%)25(OH)D缺乏的比例高于NT组(51.52%,P=0.008);(3)总体人群Apa I位点CC、CA、AA基因型频率分别0.51、0.40、0.09,等位基因C和A频率分别为0.71、0.29;Fok I位点CC、TC、TT基因型频率分别为0.28、0.50、0.22,等位基因T和C频率分别为0.47和0.53;Tru9I位点GG、GA、AA基因型频率分别为0.61、0.33和0.06,等位基因G和A频率分别为0.77和0.23.NT及HT组间各等位基因频率及基因型分布无统计学差异(P>0.05);(4)Logistic回归分析表明25(OH)D缺乏可能是HT发生的独立危险因素(OR=1.429,P=0.033).结论 (1)中国云南个旧汉族人群普遍存在25(OH)D不足或缺乏,HT组25(OH)D缺乏的程度明显高于NT组并可能与HT的发生、发展有关;(2)VDR Apa I、Taq I、Fok I、Tru I9位点存在单核苷酸多态性,但未显示其单核苷酸多态性与HT的发生有关.

Objective To investigate the association of Vitamin D receptor gene Apa I, Fok I, Taq I, Tru9 I single nucleotide polymorphism with hashimoto＇s thyroiditis（HT）. Me thods The single nucleotide polymorphism of VDR gene in 139（HT group） and 66 normal controls（NT group） were detected by Taq Man fluorescent probe.The genotype frequency and allele frequency and relative clinical data were compared between groups. Re s ults（1） Mean serum 25（OH） D in HT patients in Gejiu was（18.45±7.60） ng/m L.（2） The level of 25（OH） D in HT [（17.66 ±7.91） ng/ml] was significantly lower than that in NT group [（20.13 ±6.65） ng/m L].25（OH） D deficiency in NT group（42.42%） was significantly higher than that in HT group（22.30%,P = 0.003）.25（OH）D deficiency in HT group（70.51%） was significantly higher than that in HT group（51.52%,P = 0.008）.（3）Apa I CC, CA and AA genotype frequencies were 0.51, 0.40 and 0.09 and allele C and allele A frequencies were 0.71 and 0.29;Fok I CC, TC and TT genotype frequencies were 0.28, 0.50 and 0.22 and allele T and allele C frequencies were 0.47 and 0.53;Tru9 I GG, GA and AA genotype frequencies were 0.61, 0.33 and 0.06,and allele G and allele A frequencies were 0.77 and 0.23; The genotype frequency and allele frequency in two groups failed to show statistically significance（P0.05）（4） According to the analysis of logistic regression,25（OH） D insufficient was the risk factor related to the occurrence of HT（OR=1.429,P = 0.033）.Conclus ion People with 25（OH）D deficiency and insufficiency were widespread in Gejiu. 25（OH） D deficiency in HT group was significantly higher than that in NT group. 25（OH） D insufficiency may be the independent risk factor related to the occurrence of HT. VDR Apa I, Taq I, Fok I and Tru9 I single nucleotide polymorphism were not related to HT.