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

向茜; 王玉明; 杨艳润; 李万碧; 张弦; 杨才; 刘华

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

1. 昆明医科大学第五附属医院红河州滇南中心医院内分泌科
2. 昆明医科大学第二附属医院检验科
3. 昆明医科大学第一附属医院检验科

基金项目:

基金：云南省科技厅-昆明医科大学应用基础研究联合专项基金资资助项目 (2014FZ047);

计量
- 文章访问数: 3293
- HTML全文浏览量: 1037
- PDF下载量: 116
- 被引次数: 0
出版历程
- 收稿日期: 2018-01-11

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

Funds:

基金：云南省科技厅-昆明医科大学应用基础研究联合专项基金资资助项目 (2014FZ047);

摘要

摘要: 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.
- 25羟维生素D /
- 桥本氏甲状腺炎 /
- 维生素D受体基因 /
- 单核苷酸多态性
Abstract: 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 (P<0.05) (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.
- 25-hydroxy-vitamin D /
- Hashimoto's thyroiditis /
- Vitamin D receptor /
- Gene single nucleotide polymorphism

HTML全文

参考文献(20)

[1]中华医学会内分泌学分会《中国甲状腺疾病诊治指南》编写.中国甲状腺疾病诊治指南——甲状腺炎[J].中华内科杂志, 2008, 47 (9) :784-788.
[2]葛均波, 徐永健.内科学[M].北京:人民卫生出版社, 2013:697-698.
[3]夏维波, 章振林, 林华, 等.维生素D及其类似物临床应用共识[J].中华骨质疏松和骨矿盐疾病杂志, 2018, 11 (1) :1-19.
[4]	[4]LI M, LI Y, DENG W, et al.Chinese bone turnovermarker study:reference ranges for C-terminal telopeptide of typeⅠcollagen and procollagenⅠN-terminalpeptide by age and gender[J].PLo S One, 2014, 9 (8) :e103841.
[5]	[5]GIOVINAZZO S, VICCHIO TM, CERTO R, et al.Vitamin D receptor gene polymorphisms/haplotypes and serum 25 (OH) D3 levels in Hashimoto's thyroiditis[J].Endocrine, 2017, 55 (2) :599-606.
[6]	[6]MARSHALL T G.Vitamin D discovery outpaces FDA decision making[J].Bioessays.2008, 30 (2) :173-182.
[7]	[7]HEIKKINEN S1, VISNEN S, PEHKONEN P, et al.Nuclear hormone 1α, 25-dihydroxyvitamin D3 elicits a genome-wide shift in the locations of VDR chromatin occupancy[J].Nucleic Acids Res.2011, 39 (21) :9181-9193.
[8]	[8]PIKE J W, MEYER M B.Regulation of mouse Cyp24a1expression via promoter-proximal and downstream-distal enhancers highlights new concepts of 1, 25-dihydroxyvitamin D (3) action[J].Arch Biochem Biophys.2012, 523 (1) :2-8.
[9]	[9]NANBA T, WATANABE M, INOUE N, et al.Increases of the Th1/Th2 cell ratio in severe Hashimoto's disease and in the proportion of Th17 cells in intractable Graves'disease[J].Thyroid, 2009, 19 (5) :495-501.
[10]	[10]PEELEN E, KNIPPENBERG S, MURIS AH, et al.Effects of vitamin D on the peripheral adaptive immune system:a review[J].Autoimmun Rev, 2011, 10 (12) :733-743.
[11]	[11]CHE S 1, SIMS G P, CHEN X X, et al.Modulatory effects of1, 25-dihydroxyvitamin D3 on human B cell differentiation[J].J Immunol, 2007, 179 (3) :1634-1647.
[12]	[12]CHEN W, LIN H, WANG M.Immune intervention effects on the induction ofexperimental autoimmune thyroiditis[J].Huazhong Univ Sci Technolog Med Sci, 2002, 22 (4) :343-354.
[13]刘杉, 熊丰, 刘恩梅, 等.1, 25 (OH) 2D3干预实验性自身免疫性甲状腺炎TH1/TH2细胞失衡的研究[J].南方医科大学学报, 2010, 30 (7) :1573-1576.
[14]	[14]YANG CY, LEUNG PS, ADAMOPOULOS IE, et al.The implication of vitamin D and autoimmunity:A comprehensive review[J].Clin Rev Allergy Immunol, 2013, 45 (2) :217-226.
[15]夏征.维生素D受体基因多态性与老年男性2型糖尿病脂代谢异常及原发性高血压的关联研究[D].海口:中国人民解放军总医院硕士论文, 2015.
[16]	[16]DJUROVIC J, STOJKOVIC O, OZDEMIR O, et al.Association between Fok I, Apa I and Taq I RFLP polymorphisms in VDR gene and Hashimoto's thyroiditis:preliminary data from female patients in Serbia[J].Int J Immunogenet, 2015, 42 (3) :190-194.
[17]	[17]JURUTKA P W, REMUS L S, WHITFIELD G K, et al.The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB[J].Mol Endocrinol.2000, 14 (3) :401-420.
[18]	[18]MENG S, HE S T, JIANG W J, et al.Genetic susceptibility to autoimmune thyroid diseases in a Chinese Han population:Role of vitamin D receptor gene polymorphisms[J].Ann Endocrinol (Paris) , 2015, 76 (6) :684-689.
[19]	[19]INOUE N, WATANABE M, ISHIDO N, et al.The functional polymorphisms of VDR, GC and CYP2R1 are involved in the pathogenesis of autoimmune thyroid diseases[J].Clin Exp Immunol, 2014, 178 (2) :262-269.
[20]	[20]WANG X, ZHU J, LIU F, et al.Postoperative hypomagnesaemia is not associated with hypocalcemia in thyroid cancer patients undergoing total thyroidectomy plus central compartment neck dissection[J].Int J Surg, 2017, 39 (3) :192-196.

相关文章(20)

[1]	李盈甫, 郭妮, 罗正光, 邢安灏, 李太福, 马千里. EGFR基因多态性与云南汉族人群非小细胞肺癌的关联性, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20250413
[2]	洪超, 向旭东, 李盈甫, 曹杨, 陈雪雅, 李帅, 邢安灏, 林牧, 马千里. ERK1/2信号通路基因3'UTR多态性与非小细胞肺癌的相关性, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20240302
[3]	郭妮, 张承, 洪超, 刘伟鹏, 姚宇峰, 严志凌. KRAS基因3′UTR多态性与云南汉族人群宫颈癌及宫颈上皮内瘤变的相关性, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20240203
[4]	师雨晗, 李菁, 刘舒媛, 赵婷, 杨净思, 史荔, 梁疆莉. 壮族人群ERAP基因多态性与脊灰疫苗序贯免疫诱导的抗体应答的相关性分析, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20230711
[5]	程甜甜, 尹文卅, 王佳, 卢玉梅, 陈炫羽, 聂胜洁, 刘林林. TMTC1基因多态性与精神分裂症的关联性, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20231014
[6]	伍蓉霜, 彭江丽, 陈永刚, 陈洁, 马国伟, 李先蕊, 李谢, 余春红. SLC2A9基因单核苷酸多态性与吡嗪酰胺致高尿酸血症易感性关系, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20230409
[7]	杜鑫, 宋超, 杜冰, 王学昌, 段莲. 高海拔地区腰椎间盘突出人群血清25羟维生素D水平分析研究, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20230813
[8]	李东云, 冮顺奎, 李捷, 张明星, 李雷. ABCG2、SLC2A9、SLC17A3和 PRKG2基因单核苷酸位点多态性与哈尼族人群痛风的关系, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20210320
[9]	杨晓瑞, 向茜, 邱娅, 栾艳, 张弦, 郭燕. 血清25羟维生素D与2型糖尿病周围神经病变的相关性, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20210714
[10]	阮小荟, 向茜, 王玉明, 周治含, 张弦, 郭燕, 杨晓瑞. 维生素D受体基因Bg1I、Cdx-2位点多态性与桥本氏甲状腺炎的相关性, 昆明医科大学学报. doi: 10.12259/j.issn.2095-610X.S20210824
[11]	张弦, 向茜, 栾艳, 徐静, 郭燕, 白云霞, 杨才. 新诊断女性GD患者的25羟维生素D水平, 昆明医科大学学报.
[12]	向茜, 李万碧, 张弦, 刘华, 王玉明, 杨才, 白云霞. 维生素D受体基因ApaⅠ、BsmⅠ位点单核苷酸多态性与2型糖尿病肾病的相关性, 昆明医科大学学报.
[13]	刘城秀. 云南汉族人群TNF-α基因和ALCAM基因多态性与HCV慢性感染的相关性, 昆明医科大学学报.
[14]	杜思成. 昆明地区汉族维生素D受体基因多态性与2型糖尿病的相关性, 昆明医科大学学报.
[15]	向茜. 维生素D受体基因FokI位点单核苷酸多态性与糖尿病肾病的相关性, 昆明医科大学学报.
[16]	李莹. 云南汉族人群IL-10基因启动子多态性与HCV慢性感染的相关性研究, 昆明医科大学学报.
[17]	孙瑞梅. Focus超声刀在桥本氏甲状腺炎并甲状腺乳头状癌手术中的应用, 昆明医科大学学报.
[18]	陈雪梅. 碘过量与桥本氏甲状腺炎之间关系的研究进展, 昆明医科大学学报.
[19]	杨小蕾. STAT4基因单核苷酸多态性与云南汉族人群SLE发病的相关性研究, 昆明医科大学学报.
[20]	. 维生素D受体基因多态性与汉族散发性乳腺癌的相关研究, 昆明医科大学学报.