Haplotype

Polymorphisms of the TIM-1 gene are associated with rheumatoid arthritis in the Chinese Hui minority ethnic population

J. R. Xu, Yang, Y., Liu, X. M., Sun, J. Y., and Wang, Y. J., “Polymorphisms of the TIM-1 gene are associated with rheumatoid arthritis in the Chinese Hui minority ethnic population”, vol. 11, pp. 61-69, 2012.

The T-cell immunoglobulin and mucin domain 1 (TIM-1) is known to be associated with susceptibility to rheumatoid arthritis (RA). We investigated the association of four single-nucleotide polymorphisms (SNPs) in the promoter region of the TIM-1 gene with susceptibility to RA in a Chinese Hui ethnic minority group. Using RFLP or sequence specific primer-PCR, 118 RA patients and 118 non-arthritis control individuals were analyzed for the -1637A>G, -1454G>A, -416G>C, and -232A>G SNPs in the TIM-1 gene.

Mitochondrial haplogroup D4 confers resistance and haplogroup B is a genetic risk factor for high-altitude pulmonary edema among Han Chinese

Y. J. Luo, Gao, W. X., Li, S. Z., Huang, X. W., Chen, Y., Liu, F. Y., Huang, Q. Y., and Gao, Y. Q., “Mitochondrial haplogroup D4 confers resistance and haplogroup B is a genetic risk factor for high-altitude pulmonary edema among Han Chinese”, vol. 11, pp. 3658-3667, 2012.

High-altitude pulmonary edema (HAPE) is a life-threatening condition caused by acute exposure to high altitude. Accumulating evidence suggests that genetic factors play an important role in the etiology of HAPE. However, conclusions from association studies have been hindered by limited sample size due to the rareness of this disease. It is known that mitochondria are critical for hypoxic adaptation, and mitochondrial malfunction can be an important factor in HAPE development.

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.

Impacts of single nucleotide polymorphisms and haplotypes in the bovine Dapper1 gene on body weight

J. Wang, Wang, C., Gao, Y., Lan, X. - Y., Lei, C. - Z., Wang, J. - Q., and Chen, H., “Impacts of single nucleotide polymorphisms and haplotypes in the bovine Dapper1 gene on body weight”, vol. 12, pp. 1254-1268, 2013.

The Dapper1 protein plays important role in multiple developmental processes via negative modulation of the Wnt signaling pathway. We detected variations in Dapper1 in 1185 individuals from 5 Chinese cattle breeds and determined their effects on bovine body weight. Two silent mutations (g.8344C>T and g.8428C>T) in exon 6 along with two substitutions (g.10513A>G and g.10765C>G) in the 3'-untranslated region were detected with DNA pool sequencing and forced polymerase chain reaction-restriction fragment length polymorphism.

Differences in frequencies of UGT1A9, 1A7, and 1A1 genetic polymorphisms in Chinese Tibetan versus Han Chinese populations

W. Yan, Wang, Y. W., Yang, F. F., Wang, M., Zhang, X. Q., Dong, J., Chen, E., and Yang, J., “Differences in frequencies of UGT1A9, 1A7, and 1A1 genetic polymorphisms in Chinese Tibetan versus Han Chinese populations”, vol. 12, pp. 6454-6461, 2013.

As part of a series of pharmacogenomics studies of the Chinese population, we investigated genetic polymorphisms of some UGT1A regions. The three genes that were analyzed were UGT1A9, 1A7, and 1A1; we sequenced their exons, together with promoters, surrounding introns and 3'-untranslated regions (3ꞌUTR) in 100 unrelated-healthy Chinese Tibetan individuals. We compared the data with information on Han Chinese of the same region, which we downloaded from the HapMap database. We identified 40 polymorphisms; 16 of them were shared by the two populations.

Association of eNOS gene polymorphisms with essential hypertension in the Han population in southwestern China

J. Li, Cun, Y., Tang, W. R., Wang, Y., Li, S. N., Ouyang, H. R., Wu, Y. R., Yu, H. J., and Xiao, C. J., “Association of eNOS gene polymorphisms with essential hypertension in the Han population in southwestern China”, vol. 10, pp. 2202-2212, 2011.

Endothelial nitric oxide synthase (eNOS) plays an important role in maintaining blood pressure homeostasis and vascular integrity. Polymorphisms in the eNOS gene have been found to be associated with hypertension in different human populations, including Northern and Southern Chinese Han populations.

Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with familial Mediterranean fever

A. Rüstemoglu, Gümüş-Akay, G., Yigit, S., and Tasliyurt, T., “Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with familial Mediterranean fever”, vol. 10, pp. 3411-3420, 2011.

The multidrug resistance (MDR1) gene encodes a P-glycoprotein that plays a key role in drug bioavailability and response to drugs in different human populations. More than 50 SNPs have been described for the MDR1 gene. Familial Mediterranean fever (FMF) is considered an autosomal recessive hereditary disease, associated with a single gene named the Mediterranean fever gene (MEFV).

Methylenetetrahydrofolate reductase genotypes and haplotypes associated with susceptibility to colorectal cancer in an eastern Chinese Han population

H. Li, Xu, W. L., Shen, H. L., Chen, Q. Y., Hui, L. L., Long, L. L., and Zhu, X. L., “Methylenetetrahydrofolate reductase genotypes and haplotypes associated with susceptibility to colorectal cancer in an eastern Chinese Han population”, vol. 10, pp. 3738-3746, 2011.

Methylenetetrahydrofolate reductase (MTHFR) plays an important role in folate metabolism and is involved in DNA synthesis, DNA repair and DNA methylation. The two common functional polymorphisms of MTHFR, C677T and A1298C have been associated with several diseases, including cancer.

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