Transporter TAP1-637G and Immunoproteasome PSMB9-60H Variants Influence the Risk of Developing Vitiligo in the Saudi Population
We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the TAP1-rs1135216 and PSMB9-rs17587 variants using endonuclease digestions...
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Published in | Disease markers Vol. 2014; no. 2014; pp. 1 - 8 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Cairo, Egypt
Hindawi Publishing Corporation
01.01.2014
John Wiley & Sons, Inc |
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Abstract | We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the TAP1-rs1135216 and PSMB9-rs17587 variants using endonuclease digestions of amplified genomic DNA. The TAP1-rs1135216 and PSMB9-rs17587 mutant alleles were strongly associated with vitiligo, with odds ratios showing five fold and two fold risks ( P < 0.0001 and P = 0.007 , resp.). In TAP1-rs1135216, the 637G mutant allele was more frequent in cases (74%) than in healthy controls. In cases, the 60H mutant allele PSMB9-rs17587 was less frequent (42%) than the wild-type 60R allele (58%). Vitiligo vulgaris was the most common type of disease, associated with the DG (55%) and GG (46%) genotypes for rs1135216 and with the RH genotype (59%) for rs17587. The heterozygous 637DG and 60RH genotypes were each linked with active phenotypes in 64% of cases. In conclusion, the TAP1-rs1135216 and PSMB9-rs17587 variants are significantly associated with vitiligo, and even one copy of these mutant alleles can influence the risk among Saudis. Vitiligo vulgaris is associated with genotypes containing the mutant G and H alleles. |
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AbstractList | We evaluated whether
TAP1
-rs1135216 (p.637D>G) and
PSMB9
-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the
TAP1
-rs1135216 and
PSMB9
-rs17587 variants using endonuclease digestions of amplified genomic DNA. The
TAP1
-rs1135216 and
PSMB9
-rs17587 mutant alleles were strongly associated with vitiligo, with odds ratios showing five fold and two fold risks (
P
<
0.0001
and
P
=
0.007
, resp.). In
TAP1
-rs1135216, the 637G mutant allele was more frequent in cases (74%) than in healthy controls. In cases, the 60H mutant allele
PSMB9
-rs17587 was less frequent (42%) than the wild-type 60R allele (58%). Vitiligo vulgaris was the most common type of disease, associated with the DG (55%) and GG (46%) genotypes for rs1135216 and with the RH genotype (59%) for rs17587. The heterozygous 637DG and 60RH genotypes were each linked with active phenotypes in 64% of cases. In conclusion, the
TAP1
-rs1135216 and
PSMB9
-rs17587 variants are significantly associated with vitiligo, and even one copy of these mutant alleles can influence the risk among Saudis. Vitiligo vulgaris is associated with genotypes containing the mutant G and H alleles. We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the TAP1-rs1135216 and PSMB9-rs17587 variants using endonuclease digestions of amplified genomic DNA. The TAP1-rs1135216 and PSMB9-rs17587 mutant alleles were strongly associated with vitiligo, with odds ratios showing five fold and two fold risks ( P < 0.0001 and P = 0.007 , resp.). In TAP1-rs1135216, the 637G mutant allele was more frequent in cases (74%) than in healthy controls. In cases, the 60H mutant allele PSMB9-rs17587 was less frequent (42%) than the wild-type 60R allele (58%). Vitiligo vulgaris was the most common type of disease, associated with the DG (55%) and GG (46%) genotypes for rs1135216 and with the RH genotype (59%) for rs17587. The heterozygous 637DG and 60RH genotypes were each linked with active phenotypes in 64% of cases. In conclusion, the TAP1-rs1135216 and PSMB9-rs17587 variants are significantly associated with vitiligo, and even one copy of these mutant alleles can influence the risk among Saudis. Vitiligo vulgaris is associated with genotypes containing the mutant G and H alleles. We evaluated whether TAP1 -rs1135216 (p.637D>G) and PSMB9 -rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the TAP1 -rs1135216 and PSMB9 -rs17587 variants using endonuclease digestions of amplified genomic DNA. The TAP1 -rs1135216 and PSMB9 -rs17587 mutant alleles were strongly associated with vitiligo, with odds ratios showing five fold and two fold risks ( P < 0.0001 and P = 0.007, resp.). In TAP1 -rs1135216, the 637G mutant allele was more frequent in cases (74%) than in healthy controls. In cases, the 60H mutant allele PSMB9 -rs17587 was less frequent (42%) than the wild-type 60R allele (58%). Vitiligo vulgaris was the most common type of disease, associated with the DG (55%) and GG (46%) genotypes for rs1135216 and with the RH genotype (59%) for rs17587. The heterozygous 637DG and 60RH genotypes were each linked with active phenotypes in 64% of cases. In conclusion, the TAP1 -rs1135216 and PSMB9 -rs17587 variants are significantly associated with vitiligo, and even one copy of these mutant alleles can influence the risk among Saudis. Vitiligo vulgaris is associated with genotypes containing the mutant G and H alleles. We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the TAP1-rs1135216 and PSMB9-rs17587 variants using endonuclease digestions of amplified genomic DNA. The TAP1-rs1135216 and PSMB9-rs17587 mutant alleles were strongly associated with vitiligo, with odds ratios showing five fold and two fold risks (P < 0.0001 and P = 0.007, resp.). In TAP1-rs1135216, the 637G mutant allele was more frequent in cases (74%) than in healthy controls. In cases, the 60H mutant allele PSMB9-rs17587 was less frequent (42%) than the wild-type 60R allele (58%). Vitiligo vulgaris was the most common type of disease, associated with the DG (55%) and GG (46%) genotypes for rs1135216 and with the RH genotype (59%) for rs17587. The heterozygous 637DG and 60RH genotypes were each linked with active phenotypes in 64% of cases. In conclusion, the TAP1-rs1135216 and PSMB9-rs17587 variants are significantly associated with vitiligo, and even one copy of these mutant alleles can influence the risk among Saudis. Vitiligo vulgaris is associated with genotypes containing the mutant G and H alleles.We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the TAP1-rs1135216 and PSMB9-rs17587 variants using endonuclease digestions of amplified genomic DNA. The TAP1-rs1135216 and PSMB9-rs17587 mutant alleles were strongly associated with vitiligo, with odds ratios showing five fold and two fold risks (P < 0.0001 and P = 0.007, resp.). In TAP1-rs1135216, the 637G mutant allele was more frequent in cases (74%) than in healthy controls. In cases, the 60H mutant allele PSMB9-rs17587 was less frequent (42%) than the wild-type 60R allele (58%). Vitiligo vulgaris was the most common type of disease, associated with the DG (55%) and GG (46%) genotypes for rs1135216 and with the RH genotype (59%) for rs17587. The heterozygous 637DG and 60RH genotypes were each linked with active phenotypes in 64% of cases. In conclusion, the TAP1-rs1135216 and PSMB9-rs17587 variants are significantly associated with vitiligo, and even one copy of these mutant alleles can influence the risk among Saudis. Vitiligo vulgaris is associated with genotypes containing the mutant G and H alleles. |
Audience | Academic |
Author | Jiffri, Essam Hussien Elhawary, Nasser Attia Tayeb, Mohammed Taher Fatani, Abdulhamid Bogari, Neda Rashad, Mona |
AuthorAffiliation | 3 Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia 5 Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt 1 Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 57543, Mecca 21955, Saudi Arabia 6 National Guard Hospitals, Faculty of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh 11564, Saudi Arabia 4 Department of Pediatrics, Al-Qatif Central Hospital, Dammam 31911, Saudi Arabia 2 Department of Molecular Genetics, Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt |
AuthorAffiliation_xml | – name: 3 Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia – name: 4 Department of Pediatrics, Al-Qatif Central Hospital, Dammam 31911, Saudi Arabia – name: 2 Department of Molecular Genetics, Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt – name: 5 Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt – name: 1 Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 57543, Mecca 21955, Saudi Arabia – name: 6 National Guard Hospitals, Faculty of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh 11564, Saudi Arabia |
Author_xml | – sequence: 1 fullname: Fatani, Abdulhamid – sequence: 2 fullname: Rashad, Mona – sequence: 3 fullname: Jiffri, Essam Hussien – sequence: 4 fullname: Bogari, Neda – sequence: 5 fullname: Elhawary, Nasser Attia – sequence: 6 fullname: Tayeb, Mohammed Taher |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/25548428$$D View this record in MEDLINE/PubMed |
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CitedBy_id | crossref_primary_10_1371_journal_pone_0180958 crossref_primary_10_2174_1381612828666220831085608 crossref_primary_10_1186_s12864_017_3510_3 crossref_primary_10_3390_life11040333 crossref_primary_10_1155_2017_1474560 crossref_primary_10_1002_ski2_317 crossref_primary_10_1111_bjd_15391 |
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Copyright | Copyright © 2014 Nasser Attia Elhawary et al. COPYRIGHT 2014 John Wiley & Sons, Inc. Copyright © 2014 Nasser Attia Elhawary et al. 2014 |
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Snippet | We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi... We evaluated whether TAP1 -rs1135216 (p.637D>G) and PSMB9 -rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi... |
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SubjectTerms | Adolescent Adult ATP-Binding Cassette Sub-Family B Member 2 ATP-Binding Cassette Transporters - genetics Carrier proteins Child Child, Preschool Cysteine Endopeptidases - genetics Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Health aspects Humans Immunoproteins Male Middle Aged Risk Factors Saudi Arabia Vitiligo Vitiligo - genetics Young Adult |
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Title | Transporter TAP1-637G and Immunoproteasome PSMB9-60H Variants Influence the Risk of Developing Vitiligo in the Saudi Population |
URI | https://search.emarefa.net/detail/BIM-1035052 https://dx.doi.org/10.1155/2014/260732 https://www.ncbi.nlm.nih.gov/pubmed/25548428 https://www.proquest.com/docview/1641201867 https://pubmed.ncbi.nlm.nih.gov/PMC4273470 |
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