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Correlation between SNPs in CDH1 and gastric cancer in Chinese population

100%
Lin Y., Yuan J., Wang L., Wang L., Ma Y., Wang Y., Chen J., Zhao H.
Open Medicine
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2014
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vol. 10
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issue 1
EN
Background. Many recent studies revealed that the single nucleotide polymorphisms have considerable effects on the susceptibility of cancer, such as prostate cancer, lung cancer and gastric cancer. The E-cadherin, a calcium-dependent transmembrane glycoprotein encoded by CDH1 gene, is critical for epithelial construction, intercellular adhesion and cell migration. Some associations have been reported between single nucleotide polymorphisms and gastric cancer in the Chinese population. Objective. To investigate whether the single nucleotide polymorphism in CDH1 gene is associated with the susceptibility of gastric cancer in the Chinese population. Material and methods. The genotypes of 5 known single nucleotide polymorphisms (rs33935154, rs121964871, rs121964874, rs121964875, rs121964876) were determined in 359 gastric cancer patients and 368 healthy controls. High resolution melting curve detection and sequencing analysis were used in the present study. Results. There is a statistical significance in the rs121964871 C>G polymorphism between gastric cancer patients and healthy controls (OR=1.769, 95%CI: 1.051-2.976). Elderly male individuals (>50 years of age) carrying this risk factor may be more susceptible to gastric cancer. Conclusions. The results indicated that the rs121964871 C>G polymorphism is associated with the susceptibility of gastric cancer in the Chinese population, with some age and sex-dependent tendencies observed.
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Association between UBE2E2 variant rs7612463 and type 2 diabetes mellitus in a Chinese Han Population

88%
Kazakova E., Wu Y., Zhou Z., Chen M., Wang T., Tong H., Zhuang T., Sun L., Qiao H.
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2015
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vol. 62
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issue 2
241-245
EN
UBE2E2 encodes ubiquitin-conjugating enzyme E2E2, which plays an important role in the synthesis and secretion of insulin. Two previous studies indicated that SNPs in UBE2E2 were associated with risk for type 2 diabetes mellitus (T2DM) in the Japanese and Korean populations, respectively. We examined the association of one SNP in this gene, rs7612463, with the risk of T2DM in 1957 Han participants in northeastern China, using an SNPscanTM Kit. rs7612463 genotype was significantly associated with risk for T2DM under various genetic models, including an additive model (P = 0.004), a dominant model (P = 0.024), and a recessive model (P = 0.008). The AA genotype was associated with a significantly decreased risk for T2DM (P = 0.004, OR = 0.513, 95% CI = 0.325-0.810) after adjustment for age, gender, and BMI. The heterozygous genotype, AC, was associated with increased risk for total cholesterol (mmol l-1; P = 0.031) and triglycerides (mmol l-1; P = 0.039) in control individuals. Our results show that rs7612463 is associated with T2DM, with homozygotes of the AA genotype at decreased risk for T2DM in the Chinese population. Additionally, heterozygotes may have decreased risk of T2DM due to insulin resistance.
3
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Computational study of ACE and AGT gene of RAAS pathway

88%
Nisha N., Kaur S., Kaur S., Kumar S., Galhna K. K., Kaur K.
World News of Natural Sciences
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2018
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vol. 19
65-77
EN
Renin angiotensin aldosterone system (RAAS) is a hormone regulatory hormone system that regulate blood pressure. The two major genes ACE and AGT are the players of RAAS pathway. These genes codes for angiotensin convertase enzyme and angiotensinogen protein respectively. The angiotensin convertase enzyme convert inactive angiotensinogen into active angiotensin which further helps in the regulation of blood pressure. Due to imbalance in this pathway may cause hypertension. So in the present study we decided to perform the computational study of ACE and AGT gene. We evaluated the deleterious/damaging effect of SNPs of ACE and AGT gene by SIFT and I-Mutant2.0. The total number of SNPs predicted to be deleterious by both tools were 5 (1.83%) and 22 (6.07%) for AGT and ACE genes respectively. We also studied subcellular location of ACE and AGT genes and drugs targeting these genes from database GeneCards. Further the result output of both the softwares were also compared.
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