scholarly journals Association of \(\textit{FSIP2}\) rs4666689 and \(\textit{PON2}\) rs7493 with male infertility in Vietnamese population

2021 ◽  
Vol 43 (3) ◽  
pp. 77-85
Author(s):  
Tran Huu Dinh ◽  
Dinh Thanh Thao ◽  
Luong Thi Lan Anh ◽  
Bui Minh Duc ◽  
Nguyen Thuy Duong
Keyword(s):  
Male Infertility ◽  
Population Total ◽  
P Values ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Global Health Issue ◽  
Hereditary Factors ◽  
Vietnamese Population ◽  
Hardy Weinberg Equilibrium ◽  
Different Populations

Reproductive impairment in men is a multifactorial disease and is currently considered a global health issue. Previous studies have investigated the correlation between genetic variants and male infertility in different populations. However, such studies have appeared in limited amounts in the Vietnamese population. This study aimed to assess the association of polymorphisms FSIP2 rs4666689 and PON2 rs7493 with male infertile susceptibility in the Vietnamese population. Total DNAs were isolated from 376 samples, including 175 males with infertility and 201 controls having at least one child. For FSIP2 rs4666689, all 376 samples were applied for genotyping using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). For PON2 rs7493, only 178 samples (80 infertile patients and 98 controls) were used to assess genotype frequencies. By using statistical methods, we showed that the distribution of their genotypes was in accordance with Hardy-Weinberg equilibrium (p-values > 0.05). However, no association between both polymorphisms (FSIP2 rs4666689 and PON2 rs7493) and male infertility in the Vietnamese population was detected (p-values > 0.05). This study would help enrich to the knowledge about the effects of hereditary factors on male infertility in the Vietnamese population.

scholarly journals Association of AhRR rs2292596 with male infertility in 422 Vietnamese individuals

2021 ◽  
Vol 18 (4) ◽  
pp. 317-624
Author(s):  
Tran Huu Dinh ◽  
Nguyen Xuan Canh ◽  
Dinh Huong Thao ◽  
Luong Thi Lan Anh ◽  
Bui Minh Duc ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Factors ◽  
P Value ◽  
Healthy Controls ◽  
Multiple Factors ◽  
Pcr Rflp ◽  
Vietnamese Population ◽  
Hardy Weinberg Equilibrium ◽  
Reproductive Disease ◽  
Total Dna

Male infertility is a reproductive disease in men caused by multiple factors ranging from harmful lifestyle habits to endogenous genetic elements. This study aimed to investigate the association between the polymorphism AhRR rs2292596 and male infertility. Total DNA was extracted from blood of 422 Vietnamese samples including 218 non-obstructive azoospermic and oligozoospermic patients and 204 healthy controls. The genotypes of the polymorphism were determined by PCR-RFLP method. The distribution of genotypes and their relationship with male infertility were analyzed by statistical methods. The results indicated that rs2292596 AhRR followed Hardy-Weinberg equilibrium (p-value > 0.05). However, there was association between the rs2292596 polymorphism and male infertility in the three models (additive, dominant, and recessive) (p-value > 0.05). The investigation would help enrich the knowledge about the influences of genetic factors on male infertility in the Vietnamese population.

Association study of rs17782313 polymorphism near MC4R gene with obesity/overweight, BMI, and hedonic hunger among women from Northwestern Iran

2021 ◽  
pp. 1-12
Author(s):  
Mahan Narjabadifam ◽  
Morteza Bonyadi ◽  
Seyed Abbas Rafat ◽  
Reza Mahdavi ◽  
Fereshteh Aliasghari
Keyword(s):  
Medical Condition ◽  
Sequencing Data ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Group Methods ◽  
Pcr Rflp ◽  
Hedonic Hunger ◽  
Hardy Weinberg Equilibrium ◽  
Northwestern Iran ◽  
Different Populations

BACKGROUND: Obesity, as a medical condition, results from interactions between environmental and genetic factors. The rs17782313 polymorphism, located 188kb downstream of the Melanocortin 4 Receptor (MC4R) gene, is one of the essential candidate genetic markers that has shown the highest association with obesity in different populations. OBJECTIVE: This study aimed to investigate the possible associations of rs17782313 polymorphism near the MC4R gene with obesity/overweight, body mass index (BMI), and hedonic hunger among women from the Iranian Azeri ethnic group. METHODS: Five hundred sixty-three women, composed of 396 patients with obesity/overweight and 167 unrelated healthy controls, were genotyped for the rs17782313 polymorphism by applying the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) method. RESULTS: This population was in Hardy-Weinberg equilibrium (P = 0.878). The study confirmed a significant association of rs17782313 with obesity, where subjects carrying the C/C genotype had higher odds of obesity (OR = 2.681, P = 0.005, 95%CI:1.340–5.365). Also, C allele carriers have statistically significantly higher BMI scores than those carrying the T allele (P = 0.029). However, no significant associations were found among PFS scores and genotypic/allelic groups of rs17782313 polymorphism (P = 0.368). CONCLUSIONS: Our findings suggest that rs17782313 polymorphism is strongly associated with obesity and BMI but not with hedonic hunger among Northwest Iran women. Moreover, the sequencing data analysis in several homozygous and heterozygous carriers of the C allele led to identifying a novel frameshift variant with TCT deletion (rs534212081) in the 166 upstream of rs17782313, which has not been reported so far.

scholarly journals The −174G/C and −572G/C Interleukin 6 Promoter Gene Polymorphisms in Mexican Patients with Rheumatoid Arthritis: A Case-Control Study

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
S. A. Zavaleta-Muñiz ◽  
B. T. Martín-Márquez ◽  
L. Gonzalez-Lopez ◽  
N. G. Gonzalez-Montoya ◽  
M. L. Díaz-Toscano ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Severe Disease ◽  
Rflp Analysis ◽  
Mexican Mestizo ◽  
Lack Of Information ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Promoter Gene ◽  
Hardy Weinberg Equilibrium ◽  
Control Study

Objective. There is a lack of information about the genotype frequencies of IL-6 −174G/C and −572G/C polymorphisms in Mexicans with rheumatoid arthritis (RA). Therefore, the aim of this study was to evaluate the association of the IL-6 −174G/C and −572G/C polymorphisms in Mexican mestizo with RA.Methods. We included 137 patients with RA and 102 healthy controls. Patients were assessed for clinical characteristics. IL-6 −174G/C and −572G/C polymorphisms were genotyped using PCR-RFLP analysis. Allele and genotype frequencies and the Hardy-Weinberg equilibrium were computed. Odds ratios (ORs) were computed to identify the risk for RA associated with the presence of GG genotype in comparison with the GC or CC genotypes.Results. The genotype −174GG occurred at a higher frequency in cases and controls (77.4% versus 78.4%,P=0.845). We found similar results for the genotype −572GG (54% in patients versus 60.8% in controls,P=0.295).Conclusions. This is the first study to evaluate the association of −174G/C and −572G/C polymorphisms of the IL-6 gene with RA in Mexican mestizo patients. These two polymorphisms were not associated with RA in the studied sample. Additional studies are required to evaluate if these IL-6 polymorphisms have relevance to the development of more severe disease.

scholarly journals Association of SNP T125A on KiSS1 gene with reproduction hormone levels in Kaligesing goat

2020 ◽  
Vol 45 (4) ◽  
pp. 253-260
Author(s):  
G. Hardyta ◽  
D.T. Widayati ◽  
D. Maharani
Keyword(s):  
Luteal Phase ◽  
Reproductive Traits ◽  
Genotype Distribution ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
17Β Estradiol ◽  
Hormonal Analysis ◽  
Hormonal Levels

The objective of this study was to assess the association of KiSS1 gene polymorphism with reproductive traits in Kaligesing goat. Genotypes of 48 ewes aged three years old were determined using PCR-RFLP and DNA sequencing. Sixteen out of 48 samples were monitored for the estrus cycle and determined their 17β-estradiol and progesterone levels using ELISA method. The results showed that KISS1 gene in the studied population was polymorphic with one single nucleotide polymorphism (SNP T125A). Then SNP was used to analyze genotype all individuals by PCR-RFLP method using MboII enzyme. Three genotypes (TT, TA and AA) were identified. Genotype frequencies of TA were 59.57%, AA were 40.43% while TT was not inculed in calculation for genetic diversity and assosication analysis since the number of genotype only one goat. The allele frequencies of T and A were 29.79% and 70.21%, respectively. The genotype distribution for the SNP was deviated from Hardy-Weinberg equilibrium (χ2=8.10; P<0.025). Hormonal analysis showed that the levels of 17β-estradiol in the follicular and luteal phase were 50.12±61.26 and 42.35±42.43 pg/ml, respectively, while the levels of progesterone hormone in the follicular and luteal phase were 7.87±10.59 and 12.39±15.93 ng/ml. No significant associations of the polymorphism were observed for any hormonal levels. However, it was first report about polymorfism in KiSS1 gene of local Indonesian goat especially Kaligesing goat. 

scholarly journals Analysis of Prolactin and Kappa-Casein Genes Polymorphism in Four Cattle Breeds in Turkey

2014 ◽  
Vol 14 (4) ◽  
pp. 799-806
Author(s):  
Bilal Akyüz ◽  
Mehmet Ulaş Çınar
Keyword(s):  
Restriction Enzymes ◽  
Chi Square ◽  
Brown Swiss ◽  
Weinberg Equilibrium ◽  
Cattle Breeds ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Chi Square Test ◽  
Hardy Weinberg Equilibrium ◽  
Casein Genes

Abstract The objective of this study was to identify allele and genotype frequencies of CSN3 and PRL genes in four cattle breeds in Turkey. For this purpose, a total of 390 cattle of East Anatolian Red (EAR), Zavot, Brown Swiss (BS) and Simmental (SIM) breeds were genotyped by PCR-RFLP method. A 443 bp fragment of CSN3 and a 156 bp fragment of PRL were amplified and digested with HindIII and RsaI restriction enzymes, respectively. For CSN3 and PRL genes, two types of alleles (A and B) and three types of genotypes (AA, BB, and AB) were observed. The highest frequencies for CSN3-A and CSN3-B alleles were estimated for the EAR breed (0.743) and for the BS breed (0.556), respectively. The highest frequency for PRL-A and PRL-B alleles was estimated for the SIM breed (0.801) and for the BS breed (0.315), respectively. The Chi-square test among the investigated cattle breeds showed that only the Zavot breed was in Hardy-Weinberg equilibrium (HWE) for both loci.

Genetic Variants of β-casein Gene in Indigenous and Exotic Dairy Cattle Breeds in Sri Lanka

2020 ◽  
Author(s):  
S. Wickramasinghe ◽  
R. K. Rupasinghe ◽  
N. Shanjayan ◽  
L. G.S. Lokugalappatti
Keyword(s):  
Sri Lanka ◽  
Bos Indicus ◽  
Bovine Milk ◽  
Cattle Population ◽  
Health Issues ◽  
Genotype Frequencies ◽  
Holstein Friesian ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
White Cattle

Background: Bovine milk contains two types of β-casein (CSN2); A1 and A2, in which A1 type has shown associations with certain health issues. This study was conducted to identify the abundance of CSN2 A1/A2 variants in European and indigenous dairy breeds in Sri Lanka. Methods: The study included 123 Ayrshire, 101 Holstein Friesian and 92 indigenous White cattle (Bos indicus) populations. Genotyping was performed by PCR-RFLP method using Dde1. Allele and genotype frequencies and population genetic indices were calculated. Result: Results showed A1A2 to be predominant in both Holstein Friesian (0.63) and Ayrshire (0.68) populations while A2A2 (0.82) was predominant in the White cattle population. A1 and A2 allele frequencies were 0.52 and 0.48 in Ayrshire; 0.39 and 0.61 in Holstein Friesian and 0.09 and 0.91 in White cattle populations. Ayrshire and Holstein Friesian populations showed significant deviation from the Hardy-Weinberg equilibrium (p£0.05). When compared to the imported breeds, the White cattle population showed inbreeding and less genetic diversity.

scholarly journals Polymorphisms of ABCG2 and SLC22A12 Genes Associated with Gout Risk in Vietnamese Population

Medicina ◽  
2019 ◽  
Vol 55 (1) ◽  
pp. 8 ◽  
Author(s):  
Nguyen Thuy Duong ◽  
Nguyen Thy Ngoc ◽  
Nguyen Tran Minh Thang ◽  
Bach Thi Hoai Phuong ◽  
Nguyen Thanh Nga ◽  
...  
Keyword(s):  
Uric Acid ◽  
Serum Uric Acid ◽  
Nucleotide Polymorphisms ◽  
Ethnic Populations ◽  
Increased Risk ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Vietnamese Population ◽  
Hardy Weinberg Equilibrium ◽  
And Control

Background and objective: Gout is a common form of inflammatory arthritis caused by the crystallization of uric acid. Previous studies have demonstrated that the genetic predisposition of gout varies in different ethnic populations. However the association study of genetic variants with gout remains unknown in the Vietnamese population. Our study aimed to assess the relationship between polymorphisms in ABCG2 and SLC22A12 and gout susceptibility in Vietnamese. Materials and methods: Genomic DNA was extracted from blood of a total of 170 patients with gout and 351 healthy controls. We genotyped single nucleotide polymorphisms (SNPs): rs72552713, rs12505410 of the ABCG2 gene and rs11231825, rs7932775 of the SLC22A12 gene using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and then confirmed 10% of randomly selected subjects by Sanger sequencing. Results: Three SNPs (rs72552713 and rs12505410 and rs11231825) were in accordance with Hardy–Weinberg Equilibrium (HWE) (p > 0.05) while rs7932775 was not (p < 0.05). For rs72552713, CT genotype was significantly different between gout patient and control groups (p < 0.001) and the T allele was associated with an increased risk of gout (OR = 21.19; 95% CI: 3.00–918.96; p < 0.001). Serum uric acid and hyperuricemia differed significantly between CC and CT genotype groups (p = 0.004 and 0.008, respectively). For rs11231825, a protective effect against gout risk was identified in the presence of the C allele when compared with the T allele (OR = 0.712; 95% CI: 0.526–0.964 p = 0.0302). In contrast, no significant difference of allele frequencies between gout patients and controls was detected for rs12505410 (p > 0.05). However, significant differences in serum uric acid and systolic blood pressure were obtained among gout patients. Conclusion: Our results suggest that ABCG2 rs72552713 and SLC22A12 rs11231825 are likely associated with gout in the Vietnamese population in which T allele may be a risk factor for gout susceptibility.

scholarly journals Polymorphisms in the Leptin and SCD genes in Buffaloes of the Amazon

2021 ◽  
Vol 10 (13) ◽  
pp. e233101321222
Author(s):  
Caio Santos Silva ◽  
Ednaldo da Silva Filho ◽  
Lorena Keyse Nery da Silva ◽  
Rafaella Sousa Ferraz ◽  
Amanda de Sousa Matos ◽  
...  
Keyword(s):  
Milk Production ◽  
Bubalus Bubalis ◽  
Shannon Index ◽  
Inbreeding Coefficients ◽  
Genotype Frequencies ◽  
Mixed Breed ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Polymerase Chain ◽  
Amazonian Region

The objective this work was to evaluate genetically the buffaloes populations using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in the leptin and stearoyl-CoA desaturase (SCD) genes, and associate the genotypes with milk production. Sixty-nine samples of Bubalus bubalis - 38 Murrah breed, 18 Mediterranean and 13 mixed-breed of the Murrah with Mediterranean - were evaluated. Allele and genotype frequencies, the heterozygosity observed and expected, the inbreeding coefficients (FIS), the probabilities of the Hardy-Weinberg equilibrium, the F statistic for population differentiation and Shannon index were calculated using GENEPOP and GenALEx programs. The associations of the different genotypes with a role in milk production were tested by Analysis of Variance (ANOVA) and t-test. We reported the leptin and SCD allele contribution to genetic variability in buffaloes herds in the Brazilian Amazonian region. The A allele was more representative in leptin and SCD genes for all breed groups. No significant effects between genotypes and milk production were found in the present study, but there is an indicative that AA genotype in leptin gene affects milk production in Murrah breed.

scholarly journals The geographic distribution of the ACE II genotype: a novel finding

2007 ◽  
Vol 89 (4) ◽  
pp. 259-267 ◽  
Author(s):  
Y. B. Saab ◽  
P. R. Gard ◽  
A. D. J. Overall
Keyword(s):  
Geographic Location ◽  
Reaction Products ◽  
Buccal Cells ◽  
Population Genomic ◽  
Genotype Frequencies ◽  
Lebanese Population ◽  
Hardy Weinberg Equilibrium ◽  
Different Populations ◽  
Polymerase Chain ◽  
The Relationship

SummaryAngiotensin converting enzyme (ACE) gene polymorphism insertion (I) or deletion (D) has been widely studied in different populations, and linked to various functional effects and associated with common diseases. The purpose of the present study was to investigate the relationship between the ACE I/D frequency in different populations and geographic location; ACE I/D allele frequency in the Lebanese population and ACE II genotype contribution to the geographic trend were also identified. Five hundred and seventy healthy volunteers were recruited from the Lebanese population. Genomic DNA was extracted from buccal cells, and amplified by polymerase chain reaction; products were then identified by gel electrophoresis. The frequencies of the different ACE I/D genotypes were determined and tested for Hardy–Weinberg equilibrium (HWE). To assess the relationship between ACE I/D frequency and geographic location, and to identify how the Lebanese population contributes to the geographic trend in ACE I/D frequencies, Eurasian population samples and Asians were incorporated in the analyses from the literature. The frequency of the I allele in the Lebanese population was 27% and the corresponding II genotype was at a frequency of 7·37% (in HWE;P=0·979). The ACE I allele and genotype frequencies show an association with longitude, with frequencies increasing eastwards and westwards from the Middle East.

Targeting the Risks of Specific Antiplatelet Alloimmunization in the Populations of Sub-Saharan Africa, Asia, and Oceania.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4091-4091
Author(s):  
Cecile Kaplan-Gouet ◽  
Andre Bigot ◽  
Gisele Imandy ◽  
Ferdinand M’Bayo ◽  
Hoa B. Khanh ◽  
...  
Keyword(s):  
Platelet Transfusion ◽  
Rare Event ◽  
Sub Saharan Africa ◽  
Salting Out ◽  
Low Frequencies ◽  
Genotype Frequencies ◽  
Population Migrations ◽  
Vietnamese Population ◽  
Hardy Weinberg Equilibrium ◽  
Sub Saharan

Abstract As specific antiplatelet alloimmunization directed against Human Platelet Antigens (HPA) during pregnancy or after platelet transfusion is not a rare event, this study aims at identifying such a risk in the context of the diversity caused by the population migrations we see today in our hospitals and particularly in the Sub-Saharan African (SSA), south East Asia and Polynesian populations. Samples were collected from 155 Beninese, 118 Cameroonian, 96 Congolese (Kinshasa), 107 Vietnamese and 81 Polynesian Ma’ohis, all unrelated, healthy blood donors. DNA was extracted by salting out method and the platelet genotype was determined by PCR-RFLP. We did not observe any significant deviation from the Hardy-Weinberg equilibrium. As opposed to Caucasian populations, the risk of anti HPA-1a alloimmunization is extremely low, due to the absence, or at least the low frequencies of HPA-1 b homozygous individuals in these populations (Cameroon 0.8 % and Benin 1.3 %). An important risk could be associated with HPA-2 immunization in the SSA population, as we observed a relatively high frequency of HPA-2b homozygous individuals. Moreover we noted the frequency of HPA-3b homozygous to be between 11 and 24%. Given that, as neonatal alloimmune thrombocytopenia (NAIT) caused by anti HPA-3a or 3b is similar in severity to disease caused by incompatibility of HPA-1a, this risk should not be ignored particularly in the Vietnamese population with 24.3 % of HPA3b homozygous. We noted the absence of HPA-4b allele. Finally, in contrast to the frequency of HPA-6 heterozygous in the Polynesian population (17%), we do not observe HPA-6b homozygous individuals, suggesting a small risk for that antigen to be implicated in alloimmunization. The repartition of HPA-15 alleles is heterogeneous in these populations. In conclusion: HPA-2 alloimmunization in SSA populations should be identified for platelet transfusion refractoriness or NAIT, similarly for HPA-3 especially in the Vietnamese population and to a lesser degree, HPA-5 in the Cameroon and in the Congo. Genotype frequencies HPA-1 HPA-2 HPA-3 HPA-5 HPA-6 HPA-15 bb ...ab ↑bb ...ab ↑bb ...ab ↑bb ↑ ...ab bb ↑ ...ab bb Viet Nam 0.0 ↑ 09.4 0.0 54. ↑24.3 05.6 ↑0.0 02.8 ↑0 ↑ 57.0 24.3 Polynesia 0.0 ↑ 16.3 0.0 ↑ 37.5 18.7 05. ↑0.0 ↑ 17.1 0 ↑ 52.4 28.4 Benin 1.3 ↑ 44.8 7.1 42.8 ↑11.1 34.1 ↑0.8 0.00 ↑0 ↑ 41.6 14.1 Cameroon 0.8 32.7 ↑7.8 ↑ 50.8 13.1 29.8 ↑6.4 ↑ 0.00 0 ↑ 41.2 10.9 Congo 0.0 40.0 ↑2.5 49. ↑18.6 45.2 ↑4.1 ↑ 0.00 0 ↑ 43.8 05.5

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