scholarly journals Polymorphism C/T-13910 of the LCT gene regulatory region and lactase deficiency in Eurasian populations

2007 ◽  
Vol 5 (3) ◽  
pp. 25-34
Author(s):  
Maria V Sokolova ◽  
Eugene V Vasilyev ◽  
Andrey I Kozlov ◽  
Denis V Rebrikov ◽  
Svetlana S Senkeeva ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Regulatory Region ◽  
Recessive Trait ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genetic Determination ◽  
Asian Populations ◽  
Genotype Frequencies ◽  
European Part Of Russia ◽  
Genetically Determined

Genetically determined deficiency of the lactase enzyme in adults (primary hypolactasia) is a recessive trait. As shown earlier, in some European populations primary hypolactasia is determined by carrying the CC genotype at the single-nucleotide polymorphism (SNP) LCT*С/T-13910. In this work allele and genotype frequencies were estimated for the single-nucleotide polymorphism (SNP) LCT*C/ T-13910 in 7 samples (346 individuals in total), representing Eurasian populations (Saami, Mari, Russians from the Volga-Ural Area, Kazakhs, Uyghurs, Buriats, Arabs). For part of these groups and for some of the earlier studied groups the frequencies of the CC genotype are similar to the epidemiological-clinical data on hypolactasia frequency reported for respective or closely located populations (in Russians, Ukrainians, Byelorussians, Kola Saami, Mari, Komi-Permyaks, Udmurts, Pamir Mountain dwellers, and in Chukchi, Iranians and Arabs). For the Asian populations, the data are contradictory, and evaluation of genetic determination of hypolactasia in these populations requires further studies of larger samples. Considering association of primary hypolactasia with CC genotype in the Russian sample found by us earlier, the obtained results point that the CC genotype at SNP LCT*C/ T-13910 is the main genetic determinant of primary hypolactasia for populations of the European part of Russia.

BTNL2 gene polymorphism and sarcoid uveitis

2019 ◽  
pp. bjophthalmol-2018-312949 ◽  
Author(s):  
Mayeul Chaperon ◽  
Yves Pacheco ◽  
Delphine Maucort-Boulch ◽  
Jean Iwaz ◽  
Laurent Perard ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Gene Polymorphism ◽  
Nucleotide Polymorphism ◽  
Predisposing Factor ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Subgroup Ii ◽  
Significant Difference ◽  
Caucasian Women ◽  
Patient Subgroups

BackgroundUveitis is a frequent and early feature of sarcoidosis. As BTNL2 (butyrophilin-like 2) gene polymorphism was found linked with the susceptibility to sarcoidosis, we investigated whether a specific genotype of BTNL2 gene G16071A (or rs2076530) single-nucleotide polymorphism (SNP) would be associated with the risk of sarcoid uveitis in all patient subgroups.MethodsThe study compared the genotype frequencies of SNP G16071A of 135 patients with sarcoid uveitis (Sa+Uv+) with those of 196 patients with sarcoidosis without uveitis (Sa+Uv−), 81 patients with uveitis without sarcoidosis (Sa−Uv+), and 271 controls with no sarcoidosis nor uveitis (Sa−Uv−). Three hypothetical subgroups of patients with sarcoid uveitis (Sa+Uv+ cases) were considered: (1) subgroup I: patients aged <45 years of both sexes and all ethnic origins; (2) subgroup II: Caucasian women aged >45 years; and (3) subgroup III: all other patients.ResultsA statistically significant difference in genotype frequencies was found between the groups Sa+Uv− and Sa−Uv− (p=3.2×10−6) and between the groups Sa+Uv+ and Sa+Uv− (p=7.1×10−3). There was no difference between the three subgroups of Sa+Uv+ patients. There was a statistically significant difference in genotype frequencies between Sa+Uv− and Sa+Uv+ subgroup II (p=0.005) but no difference between Sa+Uv− and Sa+Uv+ subgroup I.ConclusionNo association was found between G16071A and the susceptibility to sarcoid uveitis. BTNL2 gene G16071A SNP seems to be a predisposing factor for sarcoidosis except in Caucasian postmenopausal women with sarcoid uveitis in whom the GG genotype prevails. These and future results will help in understanding differences between particular subgroups of patients with sarcoid uveitis.

scholarly journals Glu504Lys Single Nucleotide Polymorphism of Aldehyde Dehydrogenase 2 Gene and the Risk of Human Diseases

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Yan Zhao ◽  
Chuancai Wang
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chronic Diseases ◽  
Aldehyde Dehydrogenase ◽  
Late Onset ◽  
Potential Candidate ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Asian Populations ◽  
Reactive Aldehydes ◽  
Aldehyde Dehydrogenase 2 Gene

Aldehyde dehydrogenase (ALDH) 2 is a mitochondrial enzyme that is known for its important role in oxidation and detoxification of ethanol metabolite acetaldehyde. ALDH2 also metabolizes other reactive aldehydes such as 4-hydroxy-2-nonenal and acrolein. The Glu504Lys single nucleotide polymorphism (SNP) ofALDH2gene, which is found in approximately 40% of the East Asian populations, causes defect in the enzyme activity of ALDH2, leading to alterations in acetaldehyde metabolism and alcohol-induced “flushing” syndrome. Evidence suggests thatALDH2Glu504Lys SNP is a potential candidate genetic risk factor for a variety of chronic diseases such as cardiovascular disease, cancer, and late-onset Alzheimer’s disease. In addition, the association betweenALDH2Glu504Lys SNP and the development of these chronic diseases appears to be affected by the interaction between the SNP and lifestyle factors such as alcohol consumption as well as by the presence of other genetic variations.

Dopamine transporter 1 (DAT1) rs40184 single nucleotide polymorphism is not associated with the Malaysian major depressive disorder subjects

2019 ◽  
Vol 2 (4) ◽  
pp. 5-13
Author(s):  
Asraa Faris Aldoghachi ◽  
Pike-See Cheah ◽  
Normala Ibrahim ◽  
Munn Sann Lye ◽  
King-Hwa Ling
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Major Depressive Disorder ◽  
Depressive Disorder ◽  
Conditional Logistic Regression ◽  
Nucleotide Polymorphism ◽  
Major Depressive ◽  
Chi Square ◽  
Single Nucleotide ◽  
Malaysian Population ◽  
Genotype Frequencies

Major depressive disorder (MDD) is a serious mental illness with a multifactorial aetiology that was shown to influence behaviour and affect cognition. Previous research has favoured the involvement of dopamine in the aetiology of the disorder, and since one of the critical regulators of the dopamine levels and activity in the brain is DAT1, the present study investigated the association of a single nucleotide polymorphism in the DAT1 gene (rs40184) and MDD in the Malaysian population. A total of 300 cases and 300 matched controls were recruited from four Klang valley hospitals and were screened for DAT1 rs40184 using high resolution melting assays. The allele and genotype frequencies were analysed by using Chi-square. Hardy Weinberg equilibrium for the distribution of alleles and genotypes was tested by using Chi-square. Determination of the association between rs40184 and MDD was achieved by conditional logistic regression using SPSS. In the present study, no significant association was obtained between DAT1 and MDD in the Malaysian population.

scholarly journals The AGT M235T (RS699, 4072T>C) polymorphism is not associated with elite weightlifting performance

2018 ◽  
Vol 23 ◽  
pp. 34
Author(s):  
Sigal Ben-Zaken ◽  
Yoav Meckel ◽  
Dan Nemet ◽  
Michal Pantanowitz ◽  
Alon Eliakim
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Allele Frequency ◽  
Genetic Background ◽  
Elite Athletes ◽  
National Level ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Common Features ◽  
Genotype Frequencies ◽  
The Common

It is now well established that genetic background influences an athlete’s ability to excel in different sport disciplines. Previous studies have demonstrated that among power athletes, single nucleotide polymorphism (SNP) in the AGT genotype (Thr-Thr), was significantly more prevalent among weightlifters compared to sprinters and jumpers indicating that despite the common features of these sport subtypes (short and very intense), they vary in their strength and speed abilities, as well as in their genetic make-up. The aim of the present study was to assess whether the AGT SNP can be used also to distinguish elite from national levels weightlifters. The AGT M235T genotype frequencies were assessed in 47 weightlifters (30 elite, 17 national level) and 86 non-athletes control. The Thr-Thr genotype was significantly higher among weightlifters (29.8%) compared to controls (12.8%) (p=0.048). Thr allele frequency was significantly higher among weightlifters (55.3%) compared to controls (37.8%) (p=0.021). However, there was no difference in the prevalence of the polymorphism between national level and elite athletes. In conclusion, the results suggest that the AGT polymorphism cannot predict elite competitive weightlifting performance.

scholarly journals The effect of a single nucleotide polymorphism on human α2-antiplasmin activity

Blood ◽  
2007 ◽  
Vol 109 (12) ◽  
pp. 5286-5292 ◽  
Author(s):  
Victoria J. Christiansen ◽  
Kenneth W. Jackson ◽  
Kyung N. Lee ◽  
Patrick A. McKee
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Amino Acid ◽  
Amino Terminus ◽  
Healthy Population ◽  
Plasma Samples ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Polymorphic Forms

Abstract The primary inhibitor of plasmin, α2-antiplasmin (α2AP), is secreted by the liver into plasma with Met as the amino-terminus. During circulation, Met-α2AP is cleaved by antiplasmin-cleaving enzyme (APCE), yielding Asn-α2AP, which is crosslinked into fibrin approximately 13 times faster than Met-α2AP. The Met-α2AP gene codes for either Arg or Trp as the sixth amino acid, with both polymorphic forms found in human plasma samples. We determined the Arg6Trp genotype frequency in a healthy population and its effects on Met-α2AP cleavage and fibrinolysis. Genotype frequencies were RR 62.5%, RW 34.0%, and WW 3.5%. The polymorphism related to the percentage of Met-α2AP in plasma was WW (56.4%), RW (40.6%), and RR (23.6%). WW plasma tended to have shorter lysis times than RR and RW plasmas. APCE cleaved purified Met-α2AP(Arg6) approximately 8-fold faster than Met-α2AP(Trp6), which is reflected in Asn-α2AP/Met-α2AP ratios with time in RR, RW, and WW plasmas. Removal of APCE from plasma abrogated cleavage of Met-α2AP. We conclude that the Arg6Trp polymorphism is functionally significant, as it clearly affects conversion of Met-α2AP to Asn-α2AP, and thereby, the rate of α2AP incorporation into fibrin. Therefore, the Arg6Trp polymorphism may play a significant role in governing the long-term deposition/removal of intravascular fibrin.

Allele and Genotype Frequencies of Cytochrome P450 2B6 516G>T Single Nucleotide Polymorphism in HIV-Negative and HIV-Infected Adult Nigerian Populations

2016 ◽  
Vol 23 (6) ◽  
pp. e1715-e1719 ◽  
Author(s):  
Abdullahi Saʼad Toyin ◽  
Soyinka Julius Olugbenga ◽  
Bolarinwa Rahman Ayodele ◽  
Olarewaju Olusola Joseph ◽  
Bakare-Odunola Taibat Moji
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Cytochrome P450 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cytochrome P450 2B6 ◽  
Genotype Frequencies ◽  
Infected Adult ◽  
Hiv Negative

scholarly journals Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with unexplained recurrent pregnancy loss: A case-control study

2021 ◽  
pp. 873-880
Author(s):  
Fateme Khanbarari ◽  
Nasrin Ghasemi ◽  
Mahmood Vakili ◽  
Morteza Samadi
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Tyrosine Phosphatase ◽  
Control Group ◽  
Nucleotide Polymorphism ◽  
Ptpn22 Gene ◽  
Salting Out ◽  
Single Nucleotide ◽  
Genotype Frequencies

Background: Lymphoid-tyrosine-phosphatase which is encoded by the protein tyrosine phosphatase non-receptor 22 (PTPN22) gene plays a pivotal role in the regulation of immune responses by dephosphorylating several signaling intermediates of immune cells. Objective: Since a balanced immune response has been shown to be important during pregnancy, the purpose of this research was to compare the frequency of the PTPN22 C1858T polymorphism in women with unexplained recurrent pregnancy loss (URPL) vs. in a control group for the first time. Materials and Methods: Genomic DNA from 200 individuals with URPL and 200 individuals without URPL (the control group) at the infertility center in Yazd, Iran was isolated using the salting-out method. The PTPN22 C1858T polymorphism of the two groups was analyzed using polymerase chain reaction-restriction fragment length polymorphism. Genotype frequencies in the women with URPL and the fertile control group were compared using the Chi-square test. Results: There were significant differences in the frequency of the PTPN22 1858T polymorphism in the URPL individuals vs. the healthy controls, i.e. 32.0% and 21.5%, respectively (p = 0.01). Conclusion: Our findings suggest that the PTPN22 1858T polymorphism could play a role in recurrent pregnancy loss. Therefore, genotyping of the mentioned polymorphism can help clinicians to predict the probable risk of URPL. Key words: Recurrent pregnancy loss, PTPN22 protein, Single nucleotide polymorphism.

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