Polymorphism
Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population
Authors: T. Meng, Q. Ren, J.M. Wang, H. Shi, S.T. Zhang and M.T. Liu
Intervertebral disc disease is a multifactorial condition, yet disease pathogenesis that can be promoted by a single dominant mutation affecting the expression of susceptibility genes. We performed a case-control study to assess the influence of the COL9A2 Gln326Arg polymorphism on risk of intervertebral disc disease in a Chin.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048958
- DOI:
- 10.4238/gmr15048958
Analysis of ADH1B Arg47His, ALDH2 Glu487Lys, and CYP4502E1 polymorphisms in gastric cancer risk and interaction with environmental factors
Authors: Z.H. Chen, J.F. Xian and L.P. Luo
Gastric cancer is the fourth commonly diagnosed cancer and the second most frequent cause of cancer death worldwide. Genetic variations in ADH1B and ALDH2 may alter the function and activity of the corresponding enzymes, leading to differences in acetaldehyde exposure between drinkers. Cytochrome P4502E1 (CYP4502E1) is a phase.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048904
- DOI:
- 10.4238/gmr15048904
No relationship found between -1438A/G polymorphism of the serotonin 2A receptor gene (rs6311) and major depression susceptibility in a northeastern Thai population
Authors: T. Tencomnao, V. Thongrakard, W. Phuchana, T. Sritharathikhun and S. Suttirat
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 dep.. Read More»
- Genet. Mol. Res. 9(2):
- vol9-2gmr823
- DOI:
- 10.4238/vol9-2gmr823
High leptin level and leptin receptor Lys656Asn variant are risk factors for preeclampsia
Authors: S. Wang, F.Y. Qiao and L. Feng
The aim of this study was to investigate the relationship between the leptin receptor (LEPR) polymorphism/serum leptin level and preeclampsia. The prevalence of a single nucleotide polymorphism in the LEPR gene exon 14 at -656 and the serum leptin concentrations in 97 preeclamptic pregnant mothers were compared to those of 110 healthy controls. The Lys656.. Read More»
- Genet. Mol. Res. 12(3):
- 2013.January.4.14
- DOI:
- 10.4238/2013.January.4.14
Investigation on the association between IL-10 C819T gene polymorphisms and susceptibility to gastric cancer
Authors: L. Li, X.Y. Tang, L.M. Ye, Q. Yang and Y. Li
We conducted a case-control study to investigate the association between the interleukin-10 (IL-10) C819T polymorphism and susceptibility to gastric cancer in a Chinese population. A total of 157 patients with gastric cancer and 249 controls were consecutively enrolled from the Guizhou Provincial People’s Hospital betwee.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15047915
- DOI:
- 10.4238/gmr15047915
The functional polymorphisms -429T>C and -374T>A of the RAGE gene promoter are not associated with gestational diabetes in Euro-Brazilians
Authors: I.C.R. Santos, D.R. Daga, H.R. Frigeri, R.R. R�©a, A.C.R. Almeida, E.M. Souza, F.O. Pedrosa, C.M.T. Fadel-Picheth and G. Picheth
The receptor for advanced glycation end products (RAGE or AGER) is a multiligand member of the immunoglobulin superfamily. RAGE is expressed in several tissues, including human myometrium, chorionic villi and placenta. Advanced glycation end products are the best studied ligands of RAGE; they have pro-inflammatory actions in h.. Read More»
- Genet. Mol. Res. 9(2):
- vol9-2gmr817
- DOI:
- 10.4238/vol9-2gmr817
CDKAL1 and type 2 diabetes: a global meta-analysis
Authors: M.A.S. Dehwah, M. Wang and Q.-Y. Huang
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 .. Read More»
- Genet. Mol. Res. 9(2):
- vol9-2gmr802
- DOI:
- 10.4238/vol9-2gmr802
C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects
Authors: M.O. Erdogan, S.H. Yildiz, M. Solak, O. Eser, E. Cosar, B. Eser, R. Koken and S. Buyukbas
Association between neural tube defects (NTDs) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was suspected, because the MTHFR gene codes for a key enzyme in folate metabolism. Its deficiency usually leads to significant reductions in plasma concentrations of folate, vitamin B12 and methionine, .. Read More»
- Genet. Mol. Res. 9(2):
- vol9-2gmr816
- DOI:
- 10.4238/vol9-2gmr816
Role of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in polycystic ovary syndrome risk
Authors: J.B. Wu, J.F. Zhai and J. Yang
Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the ris.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048570
- DOI:
- 10.4238/gmr15048570
Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women
Authors: A. GonzÃ?¡lez-Mercado, J.Y. SÃ?¡nchez-LÃ?³pez, J.A. Regla-Nava,a, J.I. GÃ?¡mez-Nava, L. GonzÃ?¡lez-LÃ?³pez, J. DurÃ?¡n-GonzÃ?¡lez, A. Celis, F.J. Perea-DÃ?Âaz, M. Salazar-PÃ?¡ramo and B. Ibarra
We investigated associations between vitamin D receptor (VDR) gene polymorphisms, FokI T>C (rs2228570), BsmI G>A (rs1544410), ApaI G>T (rs7975232), and TaqI T>C (rs731236), with bone mineral density (BMD) in postmenopausal Mexican-Mestizo women. Three hundred and twenty postmenopausal women participated, who were classified according to World .. Read More»
- Genet. Mol. Res. 12(3):
- 2013.July.30.13
- DOI:
- 10.4238/2013.July.30.13