Single nucleotide polymorphism

Association of MHC class-III gene polymorphisms with ER-positive breast cancer in Chinese Han population

Q. Pan, Ning, Y., Chen, L. Z., Zhang, S., Liu, Z. Z., Yang, X. X., Wei, W., Wei, H., Li, Q. G., Yue, H. N., and Wang, J. X., “Association of MHC class-III gene polymorphisms with ER-positive breast cancer in Chinese Han population”, vol. 11, pp. 4299-4306, 2012.

Polymorphisms of the major histocompatibility complex (MHC) have been linked to many diseases, especially autoimmune disorders. Previous studies have shown that genetic variants in MHC class III are associated with breast cancer. To determine if there is an association between MHC class III and breast cancer risk in the Chinese Han population, we carried out a hospital-based case-control study in Guangdong and Jiangsu Provinces, including 216 histologically confirmed breast cancer patients and 216 healthy controls.

Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population

Y. Hu, Wen, W., Yu, J. - G., Qu, S. - Q., Wang, S. - S., Liu, J., Li, B. - S., and Luo, Y., “Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population”, vol. 11, pp. 4226-4234, 2012.

The ubiquitin-conjugating enzyme 2B gene (UBE2B) is involved in the regular and symmetric organization of the fibrous sheath of sperm flagella. This study aimed to examine the relationship between single nucleotide polymorphisms (SNPs) in UBE2B and infertility in Northeast Chinese men. We carried out a polymerase chain reaction-restriction fragment length polymorphism analysis for SNPs in 312 fertile males and 388 infertile males in Northeast China.

The genetic variant rs401681C/T is associated with the risk of non-small cell lung cancer in a Chinese mainland population

H. Wang, Zhao, Y., Ma, J., Zhang, G., Mu, Y., Qi, G., Fang, Z., Wang, L., Fan, Q., and Ma, Z., “The genetic variant rs401681C/T is associated with the risk of non-small cell lung cancer in a Chinese mainland population”, vol. 12. pp. 67-73, 2013.

Although lung cancer (LC) is a highly environmentally associated disease, genetic factors are also thought to play a role in this disease. In recent years, genome-wide association studies have identified various susceptible genetic regions for LC. Herein, we used high-resolution melting analysis to genotype 2 significant single nucleotide polymorphisms previously reported in Caucasians, that is, rs401681 at 5p15.33 and rs8034191 at 15q25, in a case-control study with 492 LC cases and 486 cancer-free controls in a Chinese population.

Association of T1740C polymorphism of L-FABP with meat quality traits in Junmu No. 1 white swine

Y. H. Zhang, Dai, L. S., Ma, T. H., Wang, S. Z., Guo, J., Li, F. J., Zhang, S. M., Sun, B. X., Liu, D. F., Gao, Y., and Zhang, J. B., “Association of T1740C polymorphism of L-FABP with meat quality traits in Junmu No. 1 white swine”, vol. 12, pp. 235-241, 2013.

This study was designed to investigate a single nucleotide polymorphism in intron 1 of the liver fatty acid-binding protein (L-FABP) gene in 156 Junmu No. 1 white swine using PCR-single-strand conformational polymorphism. The association between the polymorphism and meat quality traits was also studied. The cloning and sequencing results indicated that the polymorphism in intron 1 was due to a T→C mutation at position 1740 of L-FABP, yielding three genotypes (TT, TC, and CC).

Genetic variants of AICDA/CASP14 associated with childhood brain tumor

S. Jeon, Han, S., Lee, K., Choi, J., Park, S. K., Park, A. K., Ahn, H. S., Shin, H. Y., Kang, H. J., Koo, H. H., Seo, J. J., Choi, J. E., Kim, H., Ahn, Y., and Kang, D., “Genetic variants of AICDA/CASP14 associated with childhood brain tumor”, vol. 12, pp. 2024-2031, 2013.

We conducted a hospital-based case-control study in Korea to investigate whether apoptosis- and cell cycle control-related genes are associated with childhood brain tumor. Incident brain tumor cases (N = 70) and non-cancer controls (N = 140), frequency-matched by age and gender, were selected from 3 teaching hospitals in Seoul between 2003 and 2006. Tag single nucleotide polymorphisms (SNPs) (N = 297) in 30 genes related to apoptosis and cell cycle control were selected using a pairwise linkage-disequilibrium-based algorithm.

Vascular endothelial growth factor +936C/T polymorphism and cancer risk in Asians: a meta-analysis

X. L. Liu, Yang, Q. F., and Kong, B. H., “Vascular endothelial growth factor +936C/T polymorphism and cancer risk in Asians: a meta-analysis”, vol. 12, pp. 1924-1933, 2013.

Vascular endothelial growth factor (VEGF), the most important regulator of angiogenesis and vascular permeability, is involved in various steps of carcinogenesis. The +936C/T polymorphism of the VEGF gene has been reported to affect the VEGF protein level and to be related to the susceptibility of cancer. However, the results of published studies, as well as the subsequent meta-analyses, remain contradictory. We investigated the association between VEGF +936C/T polymorphism and cancer risk in the Asian population.

Polymorphisms of the angiotensin II type 1 receptor gene affect antihypertensive response to angiotensin receptor blockers in hypertensive Chinese

H. T. Gong, Ma, X. L., Chen, B. X., Xu, X. Y., Li, Q., Guo, C. X., and Du, F. H., “Polymorphisms of the angiotensin II type 1 receptor gene affect antihypertensive response to angiotensin receptor blockers in hypertensive Chinese”, vol. 12, pp. 2068-2075, 2013.

The renin-angiotensin-aldosterone system plays a key role in regulating blood pressure by maintaining vascular tone and the water/sodium balance. Many antihypertensive drugs target the renin-angiotensin-aldosterone system, but the effect differs considerably among hypertensive patients. We investigated whether genetic variants of the angiotensin II type 1 receptor are associated with blood pressure response to angiotensin II receptor blockers in hypertensive Chinese patients.

IL-10 promoter SNPs and susceptibility to leprosy in ethnic groups from southwest China

X. H. Chen, Xiong, J. H., Ning, Y., Wen, Y., Liu, J., Mao, C., Weng, X. M., and Gu, J. C., “IL-10 promoter SNPs and susceptibility to leprosy in ethnic groups from southwest China”, vol. 12, pp. 2876-2885, 2013.

The purpose of this study was to determine whether interleukin-10 (IL-10) promoter polymorphisms are associated with leprosy or their subtypes in ethnic groups from southwest China. Genotyping using TaqMan® SNP Genotyping Master Mix and ABI 7500 real-time PCR system was performed for IL-10 T3575A, G2849A, C2763A, A1082G, C819T, and C592A in 189 healthy controls (40 ± 18 years) and 193 patients (46 ± 18 years) with leprosy [multibacillary, N = 131; paucibacillary (PB), N = 62].

Genetic polymorphisms of LPL and HL and their association with the performance of Chinese sturgeons fed a formulated diet

Y. He, Shen, D., Liang, X. F., Lu, R. H., and Xiao, H., “Genetic polymorphisms of LPL and HL and their association with the performance of Chinese sturgeons fed a formulated diet”, vol. 12. pp. 4559-4566, 2013.

It is very important to investigate the reasons for the large individual differences in individual performance of food acceptance when using formulated diets for the successful culture of larvae and juveniles of the Chinese sturgeon Acipenser sinensis. Genetic differences of the mitochondrial control region were investigated by direct sequencing in two groups of Chinese sturgeon, which were apt to accept or refuse formulated diets. Among 968-bp sequences, 111 variable sites were identified.

Genetic variations in MOV10 and CACNB2 are associated with hypertension in a Chinese Han population

G. L. Hong, Chen, X. Z., Liu, Y., Liu, Y. H., Fu, X., Lin, S. B., and Zhu, Q., “Genetic variations in MOV10 and CACNB2 are associated with hypertension in a Chinese Han population”, vol. 12, pp. 6220-6227, 2013.

Human hypertension is a complex, multifactorial disease. Multiple variants associated with hypertension have been identified in the large numbers of genome-wide association studies, meta-analysis, and case-control studies. The present study investigated the association between the single nucleotide polymorphisms (SNPs) of five candidate genes and the susceptibility and prognosis of hypertension in a Chinese Han population. A hospital-based case-control study in a Chinese Han population was carried out, including 500 hypertension patients and 506 healthy controls.

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