中国青岛汉族人群Na—Cl共转运子高频杂合突变P.T60M与血压差异的关系

目的研究中国汉族人群Na-cl共转运子高频杂合突变P．T60M正常携带者是否具有小剂量应用噻嗪类利尿剂的特征。方法2009年1月至2010年12月从本研究组既往确诊的Gitelman综合征家系和健康人群中招募P．T60M携带者38例（研究组），其中男19例，女19例，平均年龄（404-12）岁。另以同期在青岛大学医学院附属医院接受体检且性别、年龄和体质指数与研究组匹配的非P．T60M携带者38名为对照组，其中男19名，女19名，平均年龄（414-12）岁。检测血压、血钾、血糖水平，采用直接测序法检测Na-C1共转运子编码基因。采用t检验或卡方检验进行统计学分析。结果研究组血压明显低于对照组收缩压：（1104-14）vs（1194-15）mmHg（1mmHg=0．133kPa），t=2．686，P〈0．0l；舒张压：（704-7）vs（754-8）mmHg，t=2．944，P〈0．01]，空腹血糖明显高于对照组（5．44-0．7）VS（5．04-0．7）mmoL／L，t=2．432，P〈0．01]。研究组空腹血糖受损14人，对照组空腹血糖受损6人。研究组24h尿钠排泄量高于对照组（1704-36）VS（1604-39）mmolf24h]，但差异无统计学意义（t=1．286，P〉0．05）。结论P．T60M携带者血压更低，存在轻度糖代谢异常。

Association of high frequency variant p.T60M in Na-Cl cotransporter and blood pressure in Qingdao Han poputation

Objective To explore whether carriers of a high frequency variant p. T60M of the Na-C1 cotransporter （NCC） gene have a phenotype similar to patients treated with low-dose thiazide diuretics. Methods From January 2009 to December 2010, 38 carriers of variant p. T60M of NCC from Gitelman syndrome （GS） families confirmed by our previous study and healthy subjects were enrolled in this study. Another 38 matched healthy adults were recruited as controls. Blood pressure and biochemistry data were detected. Na-C1 cotransporter econding gene was analyzed by directional sequencing. Student＇ s t test and X2 test were used for data analysis. Results GS-heterozygotes showed significantly lower blood pressure （systolic blood pressure： （110 ± 14） vs （119 ± 15） mm Hg （1 mm Hg =0. 133 kPa） , t =2. 686, P 〈 0. 01 ; diastolic blood pressure ： （ 70 ± 7 ） vs （ 75 ± 8 ） mm Hg, t = 2. 944, P 〈 0.01 ） and higher fasting plasma glucose （ （5.4 ±0. 7） vs （5.0 ±0. 7） retool/L, t =2. 432, P 〈0. 01 ） than the controls. Fourteen GS-heterozygotes and 6 control subjects had impaired fasting glucose. Those of GS-heterozygotes had higher 24-h urinary sodium excretion than the controls （ （ 170 ± 36 ） vs （ 160 ± 39 ） mmol/24 h, t = 1. 286, P 〉 O. 05 ）. Conehlsion GS-heterozygotes have lower blood pressure and slightly higher fasting plasma glucose when compared with normal controls.