Suggestive Evidence of Slc2a9 Polymorphisms Association in Gouty Malay Males

Introduction: Solute carrier family 2, member 9 (SLC2A9) is thought to be an important urate transporter that influences the excretion and reabsorption of serum uric acid, thus has a strong effect on serum urate and risk of gout. SLC2A9 polymorphisms have been extensively studied in various populations in association with gout development. Our aim was to test for association of SLC2A9 SNPs with gout in Malay males. Methods: 78 gouty patients and 82 normal subjects were recruited and genotyped for rs3733591, rs5028843 and rs11942223 using PCR-RFLP technique. Single association and haplotype association analyses were conducted using SHEsis online software. Results: rs3733591 and rs5028843 showed association with gout with p value of 0.020 and 0.036, respectively, whilst rs11942223 yielded no association with p value of 0.08 with trend towards susceptibility projecting by OR=3.547, 3.667 and 2.732, respectively. It is noteworthy that haplotype 1/1/1 conferred protection in gout with p value 0.004 (OR=0.324 [0.147-0.716]). Conclusion: This study might suggest an evidence of association of SLC2A9 SNPs with gout among Malay males.

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Investigating the rs2237892 and rs231362 Polymorphisms of KCNQ1 Gene Associations with Type 2 Diabetes in an Iranian Population (Yazd Province)

Iranian journal of diabetes and obesity ◽

10.18502/ijdo.v13i4.8000 ◽

2021 ◽

Author(s):

Mona Padidaran ◽

Masoud Mirzaei ◽

Farimah Shamsi ◽

Seyed Mehdi Kalantar ◽

Mohammad Hasan Sheikhha

Keyword(s):

Type 2 Diabetes ◽

Normal Subjects ◽

Iranian Population ◽

K Channel ◽

P Value ◽

Α Subunit ◽

Kcnq1 Gene ◽

Pcr Rflp ◽

And Control

Objective: Type 2 diabetes (T2DM) is a worldwide prevalent metabolic disorder and the cause of many morbidities and mortalities. KCNQ1 gene encodes α-subunit of voltage-gated potassium (K+) channel which plays a role in insulin secretion in the pancreas, thus its variants may confer susceptibility to diabetes. Recognition of genetic variants involved in T2DM could help the early diagnosis and prevention of the disease. The main purpose of this paper was to investigate the frequencies of rs231362 and rs2237892 polymorphisms of KCNQ1 gene in T2DM patients and comparing these frequencies with normal subjects in an Iranian population from Yazd province, Iran. Materials and Methods: This case-control study was conducted on 166 patients with T2DM and 168 normal subjects. After obtaining the informed consent, 5 ml peripheral blood was taken from the cases and controls and then DNA was extracted. The molecular investigation was done using 4-primer ARMS PCR and PCR-RFLP methods. Results: Statistical analysis showed that GG genotype [OR= 3.9 (2.1-7.1), P-value< 0.001] and G allele [OR=2.85 (2.07-3.93), P-value< 0.001] frequency of rs231362 polymorphism was significantly different between case and control groups. While rs2237892 polymorphism did not show any differences between the two groups. Conclusion: The result of this study showed that GG genotype and G allele of rs231362 polymorphism can be related to T2DM susceptibility in the population under study.

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Fine mapping* of the bovine solute carrier family 25, member 4 (SLC25A4) gene to BTA27q14-q15 by fluorescence in situ hybridization and radiation hybrid mapping

Animal Genetics ◽

10.1046/j.1365-2052.2002.t01-15-00886.x ◽

2002 ◽

Vol 33 (4) ◽

pp. 318-320

Author(s):

C. Drogemuller ◽

H. Kuiper ◽

G. Hauke ◽

J. L. Williams ◽

O. Distl

Keyword(s):

In Situ Hybridization ◽

Fluorescence In Situ Hybridization ◽

Fine Mapping ◽

Radiation Hybrid ◽

Radiation Hybrid Mapping ◽

Solute Carrier Family ◽

Hybrid Mapping ◽

Solute Carrier

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Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families

British Journal of Ophthalmology ◽

10.1136/bjophthalmol-2020-318204 ◽

2021 ◽

pp. bjophthalmol-2020-318204

Author(s):

Zohra Chibani ◽

Imen Zone Abid ◽

Peter Söderkvist ◽

Jamel Feki ◽

Mounira Hmani Aifa

Keyword(s):

Autosomal Recessive ◽

Corneal Transplantation ◽

Gene Mutations ◽

In Silico Analysis ◽

Corneal Dystrophy ◽

Solute Carrier Family ◽

Transporter Protein ◽

Bicarbonate Transporter ◽

Corneal Clouding ◽

Solute Carrier

BackgroundAutosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is known to be caused by mutations in the solute carrier family 4 member 11 (SLC4A11) gene which encodes a membrane transporter protein (sodium bicarbonate transporter-like solute carrier family 4 member 11).MethodsTo identify SLC4A11 gene mutations associated with CHED (OMIM: #217700), genomic DNA was extracted from whole blood and sequenced for all exons and intron-exon boundaries in two large Tunisian families.ResultsA novel deletion SLC4A11 mutation (p. Leu479del; c.1434_1436del) is responsible for CHED in both analysed families. This non-frameshift mutation was found in a homozygous state in affected members and heterozygous in non-affected members. In silico analysis largely support the pathogenicity of this alteration that may leads to stromal oedema by disrupting the osmolarity balance. Being localised to a region of alpha-helical secondary structure, Leu479 deletion may induce protein-compromising structural rearrangements.ConclusionTo the best of our knowledge, this is the first clinical and genetic study exploring CHED in Tunisia. The present work also expands the list of pathogenic genotypes in SLC4A11 gene and its associated clinical diagnosis giving more insights into genotype–phenotype correlations.

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High Frequency of Cryptosporidium hominis Infecting Infants Points to A Potential Anthroponotic Transmission in Maputo, Mozambique

Pathogens ◽

10.3390/pathogens10030293 ◽

2021 ◽

Vol 10 (3) ◽

pp. 293

Author(s):

Idalécia Cossa-Moiane ◽

Hermínio Cossa ◽

Adilson Fernando Loforte Bauhofer ◽

Jorfélia Chilaúle ◽

Esperança Lourenço Guimarães ◽

...

Keyword(s):

Public Hospitals ◽

Diagnostic Methods ◽

Molecular Diagnostic ◽

P Value ◽

Cryptosporidium Hominis ◽

Cryptosporidium Spp ◽

Pcr Rflp ◽

Maputo City ◽

Stool Samples ◽

Polymerase Chain

Cryptosporidium is one of the most important causes of diarrhea in children less than 2 years of age. In this study, we report the frequency, risk factors and species of Cryptosporidium detected by molecular diagnostic methods in children admitted to two public hospitals in Maputo City, Mozambique. We studied 319 patients under the age of five years who were admitted due to diarrhea between April 2015 and February 2016. Single stool samples were examined for the presence of Cryptosporidium spp. oocysts, microscopically by using a Modified Ziehl–Neelsen (mZN) staining method and by using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) technique using 18S ribosomal RNA gene as a target. Overall, 57.7% (184/319) were males, the median age (Interquartile range, IQR) was 11.0 (7–15) months. Cryptosporidium spp. oocysts were detected in 11.0% (35/319) by microscopy and in 35.4% (68/192) using PCR-RFLP. The most affected age group were children older than two years, [adjusted odds ratio (aOR): 5.861; 95% confidence interval (CI): 1.532–22.417; p-value < 0.05]. Children with illiterate caregivers had higher risk of infection (aOR: 1.688; 95% CI: 1.001–2.845; p-value < 0.05). An anthroponotic species C. hominis was found in 93.0% (27/29) of samples. Our findings demonstrated that cryptosporidiosis in children with diarrhea might be caused by anthroponomic transmission.

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Slc7a11 Modulated by POU2F1 is Involved in Pigmentation in Rabbit

International Journal of Molecular Sciences ◽

10.3390/ijms20102493 ◽

2019 ◽

Vol 20 (10) ◽

pp. 2493 ◽

Cited By ~ 4

Author(s):

Yang Chen ◽

Shuaishuai Hu ◽

Lin Mu ◽

Bohao Zhao ◽

Manman Wang ◽

...

Keyword(s):

Skin Color ◽

Site Directed Mutagenesis ◽

Molecular Regulation ◽

Luciferase Reporter ◽

Directed Mutagenesis ◽

Regulation Mechanism ◽

Solute Carrier Family ◽

Depth Analysis ◽

Solute Carrier ◽

Fur Color

Solute carrier family 7 member 11 (Slc7a11) is a cystine/glutamate xCT transporter that controls the production of pheomelanin pigment to change fur and skin color in animals. Previous studies have found that skin expression levels of Slc7a11 varied significantly with fur color in Rex rabbits. However, the molecular regulation mechanism of Slc7a11 in pigmentation is unknown. Here, rabbit melanocytes were first isolated and identified. The distribution and expression pattern of Slc7a11 was confirmed in skin from rabbits with different fur colors. Slc7a11 affected the expression of pigmentation related genes and thus affected melanogenesis. Meanwhile, Slc7a11 decreased melanocyte apoptosis, but inhibition of Slc7a11 enhanced apoptosis. Furthermore, the POU2F1 protein was found to bind to the −713 to −703 bp region of Slc7a11 promoter to inhibit its activity in a dual-luciferase reporter and site-directed mutagenesis assay. This study reveals the function of the Slc7a11 in melanogenesis and provides in-depth analysis of the mechanism of fur pigmentation.

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