Association study

MYH9 gene polymorphisms may be associated with cerebrovascular blood flow in patients with type 2 diabetes

C. Ling, Cai, C. Y., Chang, B. C., Shi, W. T., Wei, F. J., Yu, P., Chen, L. M., and Li, W. D., “MYH9 gene polymorphisms may be associated with cerebrovascular blood flow in patients with type 2 diabetes”, vol. 14, pp. 1008-1016, 2015.

Genetic factors play an important role in type 2 diabetes (T2D) complications. Alteration of cerebrovascular blood flow (CBF) is a direct result of cerebrovascular diseases. However, few studies have reported the role of genetics on CBF in patients with T2D. We investigated whether single-nucleotide polymorphisms (SNPs) in metabolic disease genes are associated with CBF in patients with T2D. CBF velocities of CBF were measured in 337 Han Chinese patients with T2D using transcranial Doppler sonography, with 54 cerebrovascular blood flow parameters documented.

Association of genetic polymorphisms in TERT-CLPTM1L with lung cancer in a Chinese population

S. G. Liu, Ma, L., Cen, Q. H., Huang, J. S., Zhang, J. X., and Zhang, J. J., “Association of genetic polymorphisms in TERT-CLPTM1L with lung cancer in a Chinese population”, vol. 14, pp. 4469-4476, 2015.

Genome-wide association studies in several ethnic groups have reported that polymorphisms of the telomerase reverse transcriptase (TERT) and cleft lip and palate transmembrane 1-like (CLPTM1L) genes, located on 5p15.33, are associated with susceptibility to lung cancer. However, whether genetic variants of TERT-CLPTM1L are associated with an increased risk of lung cancer in the Chinese Han population is unknown.

Investigation of the association of two candidate genes (H-FABP and PSMC1) with growth and carcass traits in Qinchuan beef cattle from China

W. Liang, Zhang, H. L., Liu, Y., Lu, B. C., Liu, X., Li, Q., and Cao, Y., “Investigation of the association of two candidate genes (H-FABP and PSMC1) with growth and carcass traits in Qinchuan beef cattle from China”, vol. 13, pp. 1876-1884, 2014.

Growth and carcass traits are economically important quality characteristics of beef cattle and are complex quantitative traits that are controlled by multiple genes. In this study, 2 candidate genes, H-FABP (encoding the heart fatty acid-binding protein) and PSMC1 (encoding the proteasome 26S subunit of ATPase 1) were investigated in Qinchuan beef cattle of China.

Polymorphisms of the vitamin D receptor gene and the risk of inflammatory bowel disease: a meta-analysis

L. Wang, Wang, Z. T., Hu, J. J., Fan, R., Zhou, J., and Zhong, J., “Polymorphisms of the vitamin D receptor gene and the risk of inflammatory bowel disease: a meta-analysis”, vol. 13, pp. 2598-2610, 2014.

The gene encoding vitamin D receptor (VDR) is recognized as a promising candidate for indicating the development of inflammatory bowel disease (IBD). Four genetic polymorphisms (ApaI, BsmI, FokI, TaqI) in VDR have been widely evaluated to determine their association with IBD, and the results of these evaluations are often inconsistent. Therefore, we conducted a meta-analysis to shed some light on this issue and explored the sources of the heterogeneity between studies.

Association of BRCA2 variants with cardiovascular disease in Saudi Arabia

M. Alanazi, Reddy, N. P., Shaik, J. P., Ajaj, S. A., Jafari, A. A. A., Saeed, H., Khan, Z., and Khan, A. P., “Association of BRCA2 variants with cardiovascular disease in Saudi Arabia”, vol. 13, pp. 3876-3884, 2014.

Abnormalities in the breast cancer tumor suppressor genes (BRCA1 and BRCA2) are associated with breast and ovarian cancer. Recently, two single nucleotide polymorphisms (SNPs; rs11571836 and rs1799943) were identified, both located in untranslated regions of chromosome 13, associated with cardiovascular disease (CVD) in a multi-ethnic population. We examined the association between these BRCA2 polymorphisms and traits of CVD patients from Saudi Arabia. We genotyped rs11571836 and rs1799943 in 159 unrelated CVD patients and 176 healthy controls.

A case-control study indicates that the TRIB1 gene is associated with pancreatic cancer

X. X. Lu, Hu, J. J., Fang, Y., Wang, Z. T., Xie, J. J., Zhan, Q., Deng, X. X., Chen, H., Jin, J. B., Peng, C. H., Liu, J., Li, H. W., and Shen, B. Y., “A case-control study indicates that the TRIB1 gene is associated with pancreatic cancer”, vol. 13, pp. 6142-6147, 2014.

Pancreatic cancer is a malignant neoplasm originating from transformed cells arising in tissues that form the pancreas. To investigate whether the tribbles homolog 1 (Drosophila) gene (TRIB1) is associated with pancreatic cancer in the Chinese Han population, we conducted this case-control study and genotyped 3 single nucleotide polymorphisms (rs2980879, rs2980874, and rs2235108) of the TRIB1 gene in 182 patients and 359 normal controls of Chinese Han origin and analyzed their association.

Association between methylene tetrahydrofolate reductase and glutathione S-transferase M1 gene polymorphisms and chronic myeloid leukemia in a Brazilian population

G. S. Lordelo, Miranda-Vilela, A. L., Akimoto, A. K., Alves, P. C. Z., Hiragi, C. O., Nonino, A., Daldegan, M. B., Klautau-Guimarães, M. N., and Grisolia, C. K., “Association between methylene tetrahydrofolate reductase and glutathione S-transferase M1 gene polymorphisms and chronic myeloid leukemia in a Brazilian population”, vol. 11, pp. 1013-1026, 2012.

Chronic myeloid leukemia is a hematopoietic stem cell disorder that causes uncontrolled proliferation of white blood cells. Although the clinical and biological aspects are well documented, little is known about individual susceptibility to this disease. We conducted a case-control study analyzing the prevalence of the polymorphisms MTHFR C677T, MTHFR A1298C, del{GSTM1}, del{GSTT1}, and haptoglobin in 105 patients with chronic myeloid leukemia (CML) and 273 healthy controls, using PCR-based methods.

A family-based association study identified CYP17 as a candidate gene for obesity susceptibility in Caucasians

H. Yan, Guo, Y., Yang, T. - L., Zhao, L. - J., and Deng, H. - W., “A family-based association study identified CYP17 as a candidate gene for obesity susceptibility in Caucasians”, vol. 11, pp. 1967-1974, 2012.

The cytochrome P450c17α gene (CYP17) encodes a key biosynthesis enzyme of estrogen, which is critical in regulating adipogenesis and adipocyte development in humans. We therefore hypothesized that CYP17 is a candidate gene for predicting obesity.

Lack of association of IL-2RA and IL-2RB polymorphisms with rheumatoid arthritis in a Han Chinese population

J. Zhu, He, F., Zhang, D. D., Yang, J. Y., Cheng, J., Wu, R., Gong, B., Liu, X. Q., Ma, S., and Zhou, B., “Lack of association of IL-2RA and IL-2RB polymorphisms with rheumatoid arthritis in a Han Chinese population”, vol. 12, pp. 581-586, 2013.

Polymorphisms in IL-2RA and IL-2RB genes have been reported to confer susceptibility to rheumatoid arthritis (RA) in European populations. We investigated a possilbe association between SNPs in IL-2RA and IL-2RB genes and RA in a Han Chinese population. rs2104286 in IL-2RA and rs743777 in IL-2RB genes were genotyped in a Han Chinese cohort composed of 500 patients with RA and 600 controls. The levels of anti-cyclic citrullinated peptide antibodies (CCP) and rheumatoid factor were determined in all patients and controls.

Lack of association of functional UCP2 -866G/A and Ala55Val polymorphisms and type 2 diabetes in the Chinese population based on a case-control study and a meta-analysis

L. J. Qin, Wen, J., Qu, Y. L., and Huang, Q. Y., “Lack of association of functional UCP2 -866G/A and Ala55Val polymorphisms and type 2 diabetes in the Chinese population based on a case-control study and a meta-analysis”, vol. 12, pp. 3324-3334, 2013.

Uncoupling protein 2 (UCP2) is a mitochondrial transporter protein and can affect the function of β-cells. We investigated a possible association between functional UCP2 -866G/A and Ala55Val polymorphisms and type 2 diabetes in 715 Hubei Han Chinese. No significant association was found, either for the -866G/A polymorphism (allele, P = 0.254; genotype, P = 0.508) or for the Ala55Val polymorphism (allele, P = 0.250; genotype, P = 0.896).

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