甲状腺激素通路基因多态性与血浆TSH和iodothyronine水平在健康受试者。
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此人RP,范托尔H, Klootwijk W, de Rijke YB,柯伊伯GG, Uitterlinden AG),维瑟TJ
甲状腺激素通路基因多态性与血浆TSH和iodothyronine水平在健康受试者。
中国性金属底座。2003年6月,88 (6):2880 - 8。
- PubMed ID
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12788902 (在PubMed]
- 文摘
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单核苷酸多态性(snp)在甲状腺激素代谢有关的基因可能影响甲状腺激素的生物活性。我们调查了发生和可能的影响的snp deiodinases (D1-D3)、TSH受体(TSHR)和T(3)受体ββ(TR)基因。snp被确定在公共数据库或测序的基因组DNA来自15个随机选择的科目(30等位基因)。为确定单核苷酸多态性基因型测定156年健康献血者和相关的血浆T(4),免费的T (4)、T (3), rT(3),和TSH水平。八个snp的利益被确定,其中四个尚未出版。三个位于3 '非翻译区:D1a-C / T (T等位基因频率,C = 66% = 34%), D1b-A / G (= 89.7%, G = 10.3%),和D3-T / G (T = 85.5%, G = 14.2%)。四个错义snp: D2-A / G (Thr92Ala刺= 61.2%,阿拉巴马州= 38.8%),TSHRa-G / C (Asp36His Asp = 99.4%,他= 0.6%),TSHRb-C / (Pro52Thr Pro = 94.2%,用力推= 5.8%),和TSHRc-C / G (Asp727Glu Asp = 90.7%, Glu = 9.3%)。一个是一个沉默的SNP: TR beta-T / C (T = 96.8%, C = 3.2%)。D1a-T相关剂量依赖性的方式更高的等离子体rT (3) (CC、0.29 + / - 0.01;CT, 0.32 + / - 0.01; and TT, 0.34 +/- 0.02 nmol/liter (mean +/- SE); P = 0.017], a higher plasma rT(3)/T(4) (P = 0.01), and a lower T(3)/rT(3) (P = 0.003) ratio. The D1b-G allele was associated with lower plasma rT(3)/T(4) (P = 0.024) and with higher T(3)/rT(3) (P = 0.08) ratios. TSHRc-G was associated with a lower plasma TSH (CC, 1.38 +/- 0.07, vs. GC, 1.06 +/- 0.14 mU/liter; P = 0.04), and with lower plasma TSH/free T(4) (P = 0.06), TSH/T(3) (P = 0.06), and TSH/T(4) (P = 0.08) ratios. No associations with TSH and iodothyronine levels were found for the other SNPs. We have analyzed eight SNPs in five thyroid hormone pathway genes and found significant associations of three SNPs in two genes (D1, TSHR) with plasma TSH or iodothyronine levels in a normal population.