Chinese

Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome

R. Fu, Gou, M. F., Ma, W. H., He, J. J., Luan, Y., and Liu, J., “Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome”, vol. 14, pp. 433-439, 2015.

Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age. It is characterized by early onset and progresses to end-stage renal disease. Recently, several genes associated with CNS have been identified, including NPHS1 and NPHS2. Mutations in the NPHS1 gene have been identified in patients with CNS in Finland with relatively high frequency. Thus far, only a few case reports about CNS have described an NPHS1 mutation in China.

Influence of interleukin-1β and interleukin-6 gene polymorphisms on the development of acute pancreatitis

D. Z. Chi, Chen, J., and Huang, D. P., “Influence of interleukin-1β and interleukin-6 gene polymorphisms on the development of acute pancreatitis”, vol. 14, pp. 975-980, 2015.

We investigated the association between 3 main proinflammatory cytokines [interleukin (IL)-1β and IL-6] and the risk of acute pancreatitis. Polymerase chain reaction-restriction fragment length polymorphism was used to genotype IL-1β+3954 C/T (rs1143634) and IL-1β-511 C/T (rs16944) and IL-6 -174 G/C (rs1800795) and IL-6 -634 C/G (rs1800796).

Associations between genetic variants and the severity of metabolic syndrome in subjects with type 2 diabetes

Y. L. Chen, Pei, D., Hung, Y. J., Lee, C. H., Hsiao, F. C., Wu, C. Z., Lin, J. D., Hsu, C. H., Chang, J. B., and Hsieh, C. H., “Associations between genetic variants and the severity of metabolic syndrome in subjects with type 2 diabetes”, vol. 14, pp. 2518-2526, 2015.

Metabolic syndrome (MetS) includes obesity, dyslipidemia, elevated blood pressure, and dysglycemia. Subjects with type 2 diabetes (T2D) exhibit features of MetS. The etiology of MetS is complex, involving both environmental and genetic factors. In this study, we examined the role of specific candidate genetic variants on the severity of MetS in T2D subjects. A total of 240 T2D subjects aged 35-64 years were recruited. Waist circumstance, plasma triglycerides, high-density lipoprotein cholesterol, fasting plasma glucose, and blood pressure were measured to define MetS.

Apelin polymorphism predicts blood pressure response to losartan in older Chinese women with essential hypertension

J. Jia, Men, C., Tang, K. - T., and Zhan, Y. - Y., “Apelin polymorphism predicts blood pressure response to losartan in older Chinese women with essential hypertension”, vol. 14, pp. 6561-6568, 2015.

We determined whether the blood pressure response to losartan in an older Chinese population with essential hypertension was associated with apelin gene polymorphisms. We genotyped the -1860T>C polymorphism of the apelin gene in a case-control study of 222 patients with hypertension and 250 controls.

Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome

Z. H. Yu, Wang, D. J., Meng, D. C., Huang, J., and Nie, X. J., “Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome”, vol. 11, pp. 1460-1464, 2012.

Since the identification of the NPHS1 gene, which encodes nephrin, various investigators have demonstrated that the NPHS1 mutation is a frequent cause of congenital nephrotic syndrome (CNS); it is found in 98% of Finnish children with this syndrome and in 39-80% of non-Finnish cases. In China, compound heterozygous mutations in the NPHS1 gene have been identified in two Chinese families with CNS. To our knowledge, however, whether or not NPHS1 is the causative gene in sporadic Chinese CNS cases has not been established.

Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays

S. L. Kho, Chua, K. H., George, E., and Tan, J. A. M. A., “Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays”, vol. 12, pp. 2409-2415, 2013.

Beta-thalassemia is a life-threatening inherited blood disorder. Rapid characterization of β-globin gene mutations is necessary because of the high frequency of Malaysian β-thalassemia carriers. A combination real-time polymerase chain reaction genotyping assay using TaqMan probes was developed to confirm β-globin gene mutations. In this study, primers and probes were designed to specifically identify 8 common β-thalassemia mutations in the Malaysian Malay and Chinese ethnic groups using the Primer Express software.

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