Single nucleotide polymorphism

Association between the -1438A/G polymorphism of the serotonin 2A receptor gene and late-onset psoriasis in a Thai population

C. Ronpirin, Tencomnao, T., and Wongpiyabovorn, J., Association between the -1438A/G polymorphism of the serotonin 2A receptor gene and late-onset psoriasis in a Thai population, vol. 9, pp. 208-214, 2010.

Expression of serotonin 2A receptor (5-HTR2A) is known to increase in psoriasis, a chronic inflammatory skin disease. We investigated a possible association between the -1438A/G single nucleotide polymorphism (rs6311) in the promoter region of 5-HTR2A gene and psoriasis in a Thai population. One hundred and twelve psoriatic patients and 151 unrelated healthy controls were included in our study. Genotyping was performed using the polymerase chain reaction and restriction fragment length polymorphism techniques.

Usefulness of direct sequencing of pooled DNA for SNP identification and allele-frequency determination compatible with a common disease/common variant hypothesis

M. K. Kim, Nam, T. S., Choi, K. H., Jang, S. Y., Kim, Y. O., and Lee, M. C., Usefulness of direct sequencing of pooled DNA for SNP identification and allele-frequency determination compatible with a common disease/common variant hypothesis, vol. 9, pp. 772-779, 2010.

We examined the efficiency of direct sequencing of pooled DNA for developing common single nucleotide polymorphisms (SNPs) and its accuracy for estimating allele frequencies. A pool of 200 control DNAs was established and was used for developing SNPs and estimating minor allele frequencies (MAF). The sensitivity of the pooled DNA method for successfully detecting an SNP with an MAF >0.01 listed in the database was approximately 0.7; it was particularly efficient for detecting SNPs with MAF >0.1, which is compatible with the common disease/common variant hypothesis.

Association of C/T polymorphism in intron 14 of the dopamine transporter gene (rs40184) with major depression in a northeastern Thai population

N. Pattarachotanant, Sritharathikhun, T., Suttirat, S., and Tencomnao, T., Association of C/T polymorphism in intron 14 of the dopamine transporter gene (rs40184) with major depression in a northeastern Thai population, vol. 9, pp. 565-572, 2010.

Several lines of evidence suggest that the dopaminergic system is involved in the pathophysiology of major depressive disorder (MDD). Since the dopamine transporter (DAT1, also known as SLC6A3), mediates the active reuptake of dopamine from the synapses and thereby plays a vital role in the regulation of dopaminergic neurotransmission, we looked for a possible association between the C/T single nucleotide polymorphism in intron 14 of the DAT1 gene (also referred to as rs40184) and MDD in a northeastern Thai population.

No relationship found between -1438A/G polymorphism of the serotonin 2A receptor gene (rs6311) and major depression susceptibility in a northeastern Thai population

T. Tencomnao, Thongrakard, V., Phuchana, W., Sritharathikhun, T., and Suttirat, S., No relationship found between -1438A/G polymorphism of the serotonin 2A receptor gene (rs6311) and major depression susceptibility in a northeastern Thai population, vol. 9, pp. 1171-1176, 2010.

Several lines of evidence suggest a molecular role of -1438A/G single nucleotide polymorphism in the 5-HTR2A gene promoter (rs6311) in regulating the expression of this gene, making rs6311 polymorphism a promising candidate for an association study. We looked for a possible association between rs6311 polymorphism and major depressive disorder (MDD) in a northeastern Thai population. We included 180 patients with MDD and 183 unrelated healthy controls in our study. Genotyping was performed using PCR-RFLP.

CDKAL1 and type 2 diabetes: a global meta-analysis

M. A. S. Dehwah, Wang, M., and Huang, Q. - Y., CDKAL1 and type 2 diabetes: a global meta-analysis, vol. 9, pp. 1109-1120, 2010.

CDKAL1 (cyckin-dependent kinase 5 regulatory subunit-associated protein 1-like 1) has been shown to be associated with type 2 diabetes in various ethnic groups; however, contradictory results have been reported. We performed a comprehensive meta-analysis of 21 studies for rs7756992, 17 studies for rs7754840 and 10 studies for rs10946398 variants of the CDKAL1 gene to evaluate the effect of CDKAL1 on genetic susceptibility for type 2 diabetes.

Acetaldehyde dehydrogenase 2 SNP rs671 and susceptibility to essential hypertension in Mongolians: a case control study

T. Hasi, Hao, L., Yang, L., and Su, X. L., Acetaldehyde dehydrogenase 2 SNP rs671 and susceptibility to essential hypertension in Mongolians: a case control study, vol. 10, pp. 537-543, 2011.

Mongolians are known as heavy drinkers, and they have a high incidence of essential hypertension, which may be an associated pathology. We examined a possible association of essential hypertension and polymorphism of the aldehyde dehydrogenase 2 (ALDH2) gene in Mongolians from Inner Mongolia. Single nucleotide polymorphism rs671 of ALDH2 was detected by TaqMan PCR in 91 essential hypertensive patients (44 males and 47 females) and 70 healthy Mongolians (37 males and 33 females).

Association of TSC gene variants and hypertension in Mongolian and Han populations

P. Y. Chang, Zhao, L. G., and Su, X. L., Association of TSC gene variants and hypertension in Mongolian and Han populations, vol. 10, pp. 902-909, 2011.

We investigated a possible association between genetic variations in the thiazide-sensitive Na-Cl cotransporter (TSC) gene and essential hypertension (EH) in the Mongolian and Han ethnic groups in Inner Mongolia. Our study included 385 unrelated Mongolian herdsmen and 523 Han farmers. Nine tagSNPs of TSC were identified from the Chinese HapMap database based on pairwise r2 ≥ 0.5 and minor allele frequency ≥0.05. Genotyping was performed using the PCR/ligase detection reaction assay.

Single nucleotide polymorphisms in the growth hormone and insulin-like growth factor-1 genes are associated with milk production, body condition score and fertility traits in dairy cows

M. P. Mullen, Lynch, C. O., Waters, S. M., Howard, D. J., O’Boyle, P., Kenny, D. A., Buckley, F., Horan, B., and Diskin, M. G., Single nucleotide polymorphisms in the growth hormone and insulin-like growth factor-1 genes are associated with milk production, body condition score and fertility traits in dairy cows, vol. 10, pp. 1819-1830, 2011.

The somatotrophic axis (GH-IGF) is a key regulator of animal growth and development, affecting performance traits that include milk production, growth rate, body composition, and fertility. The aim of this study was to quantify the association of previously identified SNPs in bovine growth hormone (GH1) and insulin-like growth factor 1 (IGF-1) genes with direct performance trait measurements of lactation and fertility in Holstein-Friesian lactating dairy cows.

No evidence for association between DRD3 and COMT with schizophrenia in a Malay population

S. F. Tee, Tang, P. Y., and Loh, H. C., No evidence for association between DRD3 and COMT with schizophrenia in a Malay population, vol. 10, pp. 1850-1855, 2011.

Molecular components of the dopamine D3 receptor (DRD3) may play an important role in the pathophysiology of schizophrenia. Previous studies have demonstrated an association between DRD3 Ser9Gly and cathechol-o-methyltransferase (COMT, SNP = rs165656) polymorphisms and schizophrenia but the results were inconclusive. We investigated this apparent association between Ser9Gly (A/G) polymorphism and an intronic SNP (dbSNP or rs165656) in 261 Malay patients diagnosed with schizophrenia and 216 controls, using PCR-RFLP.

Lack of an association between a single nucleotide polymorphism in the bovine myogenic determination 1 (MyoD1) gene and meat quality traits in indigenous Chinese cattle breeds

J. A. Ujan, Zan, L. S., Wang, H. B., Ujan, S. A., Adoligbe, C., Wang, H. C., and Biao, S. F., Lack of an association between a single nucleotide polymorphism in the bovine myogenic determination 1 (MyoD1) gene and meat quality traits in indigenous Chinese cattle breeds, vol. 10, pp. 2213-2222, 2011.

The myogenic determination 1 (MyoD1) gene is a member of the MyoD gene family. It encodes for skeletal muscle-specific transcription factors containing highly conserved basic helix-loop-helix regions that perform important roles in the initiation, maintenance, and regulation of phenotypic traits. We investigated a new single nucleotide polymorphism (SNP) in the MyoD1 gene to evaluate whether this polymorphism affects meat quality traits in five Chinese indigenous cattle breeds, namely Qinchuan (QC), Xia-Nan (XN), Nan-yang (NY), Luxi (LX), and Jia-xian red (JXR).

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