Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease
Trachoma, caused by Chlamydia trachomatis , is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible...
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| Published in | Journal of genetics Vol. 103; no. 2 |
|---|---|
| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New Delhi
Springer India
18.06.2024
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| Abstract | Trachoma, caused by
Chlamydia trachomatis
, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case–control study (
n
= 51 vs
n
= 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed:
HSD11B1
(rs11807619),
HSD11B1
(rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and
ACE
. Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the
HSD11B1
gene (OR = 22.5–27.3), particularly in men when adjusts for gender (OR = 16–16.7); and (iii) D allele of rs4340 in the
ACE
gene (OR = 5.2–5.3). In fact, significant linkage disequilibrium demonstrated association between
ACE
gene and
HSD11B1
SNPs (r = 0.17–0.179;
P
= 0.0048–0.0073). Two SNPs
HSD11B1
gene (
P
= 0.013 vs 0.0039) and
HSD11B1
–
ACE
haplotypes showed association with late-stage trachoma in Mayan ethnic groups. |
|---|---|
| AbstractList | Trachoma, caused by Chlamydia trachomatis, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case-control study (n = 51 vs n = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: HSD11B1 (rs11807619), HSD11B1 (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and ACE. Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the HSD11B1 gene (OR = 22.5-27.3), particularly in men when adjusts for gender (OR = 16-16.7); and (iii) D allele of rs4340 in the ACE gene (OR = 5.2-5.3). In fact, significant linkage disequilibrium demonstrated association between ACE gene and HSD11B1 SNPs (r = 0.17-0.179; P = 0.0048-0.0073). Two SNPs HSD11B1 gene (P = 0.013 vs 0.0039) and HSD11B1-ACE haplotypes showed association with late-stage trachoma in Mayan ethnic groups.Trachoma, caused by Chlamydia trachomatis, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case-control study (n = 51 vs n = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: HSD11B1 (rs11807619), HSD11B1 (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and ACE. Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the HSD11B1 gene (OR = 22.5-27.3), particularly in men when adjusts for gender (OR = 16-16.7); and (iii) D allele of rs4340 in the ACE gene (OR = 5.2-5.3). In fact, significant linkage disequilibrium demonstrated association between ACE gene and HSD11B1 SNPs (r = 0.17-0.179; P = 0.0048-0.0073). Two SNPs HSD11B1 gene (P = 0.013 vs 0.0039) and HSD11B1-ACE haplotypes showed association with late-stage trachoma in Mayan ethnic groups. Trachoma, caused by , is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case-control study ( = 51 vs = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: (rs11807619), (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and ACE. Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the gene (OR = 22.5-27.3), particularly in men when adjusts for gender (OR = 16-16.7); and (iii) D allele of rs4340 in the ACE gene (OR = 5.2-5.3). In fact, significant linkage disequilibrium demonstrated association between ACE gene and SNPs (r = 0.17-0.179; = 0.0048-0.0073). Two SNPs gene ( = 0.013 vs 0.0039) and haplotypes showed association with late-stage trachoma in Mayan ethnic groups. Trachoma, caused by Chlamydia trachomatis , is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case–control study ( n = 51 vs n = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: HSD11B1 (rs11807619), HSD11B1 (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and ACE . Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the HSD11B1 gene (OR = 22.5–27.3), particularly in men when adjusts for gender (OR = 16–16.7); and (iii) D allele of rs4340 in the ACE gene (OR = 5.2–5.3). In fact, significant linkage disequilibrium demonstrated association between ACE gene and HSD11B1 SNPs (r = 0.17–0.179; P = 0.0048–0.0073). Two SNPs HSD11B1 gene ( P = 0.013 vs 0.0039) and HSD11B1 – ACE haplotypes showed association with late-stage trachoma in Mayan ethnic groups. |
| Author | RODRÍGUEZ-SÁNCHEZ, IRÁM P. BARAJAS-SAUCEDO, CARLOS EDUARDO MARTÍNEZ-FIERRO, MARGARITA L. DELGADO-ENCISO, IVÁN RANGEL-VILLALOBOS, HÉCTOR VALDEZ-VELAZQUEZ, LAURA L. GARCÍA-MIRANDA, ROSARIO VELÁZQUEZ-RAMÍREZ, DOIREYNER DANIEL REYES-MÉNDEZ, NANCY A. OCHOA-DÍAZ-LÓPEZ, HÉCTOR |
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| Keywords | Mayan ethnic inflammation single-nucleotide polymorphisms late-stage trachoma |
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| Snippet | Trachoma, caused by
Chlamydia trachomatis
, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico).... Trachoma, caused by , is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are... Trachoma, caused by Chlamydia trachomatis, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico).... |
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| SubjectTerms | 11-beta-Hydroxysteroid Dehydrogenase Type 1 - genetics Adult Alleles Animal Genetics and Genomics Biomedical and Life Sciences Case-Control Studies Chlamydia trachomatis - genetics Evolutionary Biology Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Genotype Haplotypes Humans Life Sciences Male Microbial Genetics and Genomics Middle Aged Peptidyl-Dipeptidase A Plant Genetics and Genomics Polymorphism, Single Nucleotide Research Article Trachoma - genetics |
| Title | Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease |
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