Boronat Mauro, Tugores Antonio, Saavedra Pedro, Garay Paloma, Bosch Elvira, Lorenzo Dionisio, García-Cantón César
Sección de Endocrinología y Nutrición, Hospital Universitario Insular, Las Palmas de Gran Canaria, España; Instituto de Investigaciones Biomédicas y Sanitarias, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, España.
Unidad de Investigación, Complejo Hospitalario Universitario Insular Materno-Infantil, Las Palmas de Gran Canaria, España.
Endocrinol Diabetes Nutr (Engl Ed). 2019 Dec;66(10):639-646. doi: 10.1016/j.endinu.2019.01.006. Epub 2019 Apr 4.
Certain polymorphisms in the non-muscle myosin IIA (MYH9) and apolipoprotein L1 (APOL1) genes have been associated to chronic kidney disease (CKD) in different populations. This study examined the association between the MHY9 rs2032487 and APOL1 rs73885319 polymorphisms and advanced CKD related to type 2 diabetes mellitus (T2DM) in a population of Gran Canaria (Canary Islands, Spain).
Polymorphisms were genotyped in 152 patients with advanced CKD (estimated glomerular filtration rate [eGFR]<30mL/min/1.73 m) secondary to T2DM, 110 patients with T2DM onset ≥ 20 years before without advanced CKD (eGFR ≥ 45mL/min/1.73 m and no proteinuria), and 292 healthy blood donors over 50 years of age without CKD or diabetes.
The frequency of the risk allele for rs2032487 was 10.7% in patients with diabetes and advanced CKD, 7.1% in those with diabetes but without advanced CKD, and 6.1% in healthy subjects, with significant differences between the first and third groups (P=.015). Among subjects with advanced CKD, 78.5% were homozygous for the protective allele, as compared to 87.9% in the other two groups (P=.015 and P=.016 respectively). The frequency of the risk allele for the rs73885319 polymorphism did not exceed 0.5% in any of the three groups.
These data suggest that polymorphism rs2032487 is associated to advanced CKD related to T2DM in the population of Gran Canaria.
非肌肉肌球蛋白IIA（MYH9）和载脂蛋白L1（APOL1）基因中的某些多态性已在不同人群中与慢性肾脏病（CKD）相关联。本研究在大加那利岛（西班牙加那利群岛）的人群中，检测了MHY9 rs2032487和APOL1 rs73885319多态性与2型糖尿病（T2DM）相关的晚期CKD之间的关联。
对152例继发于T2DM的晚期CKD患者（估计肾小球滤过率[eGFR]<30mL/分钟/1.73平方米）、110例T2DM发病≥20年且无晚期CKD（eGFR≥45mL/分钟/1.73平方米且无蛋白尿）的患者以及292名年龄超过50岁、无CKD或糖尿病的健康献血者进行多态性基因分型。
rs2032487风险等位基因在糖尿病合并晚期CKD患者中的频率为10.7%，在糖尿病但无晚期CKD患者中为7.1%，在健康受试者中为6.1%，第一组和第三组之间存在显著差异（P = 0.015）。在晚期CKD患者中，78.5%为保护性等位基因纯合子，而其他两组分别为87.9%（P分别为0.015和0.016）。rs73885319多态性的风险等位基因频率在三组中的任何一组均未超过0.5%。
这些数据表明，rs2032487多态性与大加那利岛人群中T2DM相关的晚期CKD有关。
