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Asifa Ahmed - One of the best experts on this subject based on the ideXlab platform.
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MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open Angle and primary Closed Angle Glaucoma.
Molecular vision, 2009Co-Authors: Shazia Micheal, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Muhammad Imran Khan, Asifa AhmedAbstract:Purpose: To investigate the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genotypes and plasma concentrations of total homocysteine (tHcy) in Pakistani patients with primary open Angle Glaucoma (POAG) and primary Closed Angle Glaucoma (PCAG). Methods: This was a prospective case-control study. A total of 295 patients (173 POAG, 122 PCAG) and 143 age- and sex-matched controls were subdivided into two ethnic groups, Punjabis (Punjab province, central Pakistan) and Pathans (North-West Frontier Province, northern Pakistan). Genotypes of the MTHFR C677T and A1298C polymorphisms were detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). An enzyme-linked immunosorbent assay was used to determine the total serum homocysteine (tHcy) levels. Associations were determined by logistic regression analysis. Results: Frequency distributions of genotypes and combined genotypes as well as homocysteine levels were obtained. The overall distribution of the C677T genotype was found to be significantly associated with PCAG (CC 69%, CT 21%, TT 10%; p=0.001, χ 2 =12.6), but not with POAG (CC 71%, CT 28%, TT 1%; p=0.98, χ 2 =0.02) as compared to the controls (CC 71%, CT 29%, TT 1%). The Pathan cohorts revealed no association with the disease; however, the Punjabis demonstrated a significant association with PCAG (CC 75%, CT 11%, TT 13%; p
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mthfr gene c677t and a1298c polymorphisms and homocysteine levels in primary open Angle and primary Closed Angle Glaucoma
Molecular Vision, 2009Co-Authors: Shazia Micheal, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Muhammad Imran Khan, Asifa AhmedAbstract:Purpose: To investigate the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genotypes and plasma concentrations of total homocysteine (tHcy) in Pakistani patients with primary open Angle Glaucoma (POAG) and primary Closed Angle Glaucoma (PCAG). Methods: This was a prospective case-control study. A total of 295 patients (173 POAG, 122 PCAG) and 143 age- and sex-matched controls were subdivided into two ethnic groups, Punjabis (Punjab province, central Pakistan) and Pathans (North-West Frontier Province, northern Pakistan). Genotypes of the MTHFR C677T and A1298C polymorphisms were detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). An enzyme-linked immunosorbent assay was used to determine the total serum homocysteine (tHcy) levels. Associations were determined by logistic regression analysis. Results: Frequency distributions of genotypes and combined genotypes as well as homocysteine levels were obtained. The overall distribution of the C677T genotype was found to be significantly associated with PCAG (CC 69%, CT 21%, TT 10%; p=0.001, χ 2 =12.6), but not with POAG (CC 71%, CT 28%, TT 1%; p=0.98, χ 2 =0.02) as compared to the controls (CC 71%, CT 29%, TT 1%). The Pathan cohorts revealed no association with the disease; however, the Punjabis demonstrated a significant association with PCAG (CC 75%, CT 11%, TT 13%; p<0.001, χ2=17.2). PCAG in the Punjabi subjects was also significantly associated with the A1298C polymorphism (AA 43%, AC 54%, CC 3%; p<0.001, χ2=33.9) as compared to the controls. Combined genotype data showed no association with POAG; however, a significant association with all combined genotypes was observed in the overall PCAG subjects (p<0.05, χ 2 =20.1). This difference was particularly apparent in the TTAA and TTAC combinations that were completely absent in the control groups (p<0.05. χ2=49.6). Mean serum tHcy levels were found to be significantly increased in the POAG (15.2±1.28 µmol/l, p<0.001) and PCAG (20.8±4.8 µmol/l) groups as compared to the controls (10.0±0.97 µmol/l). The tHcy levels in the TT and AC genotype were significantly elevated in the PCAG group (67±12.39 µmol/l, p<0.001; 23±5.94 µmol/l, p=0.027) as compared to the controls. Conclusion: The TT and AC genotypes of MTHFR C677T and A1298C polymorphisms and the combined genotype TTAC were associated with PCAG in Punjabi subjects of Pakistani origin and correlated with the high serum tHcy levels seen in these patients.
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C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary Closed Angle Glaucoma.
Molecular vision, 2008Co-Authors: Shazia Michael, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Asifa AhmedAbstract:Purpose: To determine whether or not there is an association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with disease in cohorts of primary open-Angle Glaucoma (POAG) and primary Closed-Angle Glaucoma (PCAG) from Pakistan. Methods: This was a prospective study consisting of 150 patients (90 POAG and 60 PCAG) and 70 control subjects. Genomic DNA was extracted from leukocytes of the peripheral blood. MTHFR C677T polymorphism analysis was performed by the polymerase chain reaction-restriction fragment length polymorphism (RFLP) technique. Results: The prevalence of the MTHFR C/T genotype was 22.2% in POAG, 13.3% in PACG, and 18.6% in controls whereas the MTHFR T/T genotype was present solely in the PACG group (6.9%). The difference regarding the T/T genotype between PACG and controls was statistically significant (p
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c677t polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary Closed Angle Glaucoma
Molecular Vision, 2008Co-Authors: Shazia Michael, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Asifa AhmedAbstract:Purpose: To determine whether or not there is an association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with disease in cohorts of primary open-Angle Glaucoma (POAG) and primary Closed-Angle Glaucoma (PCAG) from Pakistan. Methods: This was a prospective study consisting of 150 patients (90 POAG and 60 PCAG) and 70 control subjects. Genomic DNA was extracted from leukocytes of the peripheral blood. MTHFR C677T polymorphism analysis was performed by the polymerase chain reaction-restriction fragment length polymorphism (RFLP) technique. Results: The prevalence of the MTHFR C/T genotype was 22.2% in POAG, 13.3% in PACG, and 18.6% in controls whereas the MTHFR T/T genotype was present solely in the PACG group (6.9%). The difference regarding the T/T genotype between PACG and controls was statistically significant (p<0.01). Conclusions: The MTHFR C677T polymorphism was found to be associated with PCAG but not POAG in patients of Pakistani origin.
Cathryn S. Mellersh - One of the best experts on this subject based on the ideXlab platform.
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a variant in olfml3 is associated with pectinate ligament abnormality and primary Closed Angle Glaucoma in border collies from the united kingdom
Veterinary Ophthalmology, 2020Co-Authors: James A. C. Oliver, Paola Azzurra Massidda, Louise M. Burmeister, Hattie Wright, Cathryn S. MellershAbstract:Purpose Canine primary Closed-Angle Glaucoma (PCAG) is a complex disease caused by multiple genetic factors. A c.590G>A variant in OLFML3 was recently reported to be a candidate for pectinate ligament abnormality (PLA) and PCAG in the Border Collie. We investigated the association of this variant with PLA and PCAG in Border Collies from the United Kingdom. Methods The OLFML3 variant was genotyped in 106 Border Collies comprising 90 with normal eyes (controls) and 16 with PLA (n = 11) and/or PCAG (n = 5) (cases). Genotyping was performed in an additional 103 Border Collies to estimate variant frequency within the population. To investigate the association of the variant with disease in other breeds, genotyping was performed in 337 non-Border Collies with PLA and/or PCAG. Results Of the 90 controls, 71 were homozygous for the wild-type allele, two were homozygous for the variant, and 17 were heterozygous. Of the 16 cases, three were homozygous for the wild-type allele, 11 were homozygous for the variant, and two were heterozygous. The association of the variant allele with disease was significant (P = 1.1 x 10-9 ). We estimated the frequency of this variant to be 4.4% within the United Kingdom Border Collie population, and it was not identified in clinically affected dogs of any other breed. Conclusions This study confirms the association of the OLFML3 variant with PLA and PCAG in Border Collies from the United Kingdom. DNA testing for the variant and selective breeding can reasonably be expected to result in a reduction of PLA and PCAG prevalence in the breed.
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A variant in OLFML3 is associated with pectinate ligament abnormality and primary Closed‐Angle Glaucoma in Border Collies from the United Kingdom
Veterinary ophthalmology, 2019Co-Authors: James A. C. Oliver, Hattie Edith Wright, Paola Azzurra Massidda, Louise M. Burmeister, Cathryn S. MellershAbstract:Purpose Canine primary Closed-Angle Glaucoma (PCAG) is a complex disease caused by multiple genetic factors. A c.590G>A variant in OLFML3 was recently reported to be a candidate for pectinate ligament abnormality (PLA) and PCAG in the Border Collie. We investigated the association of this variant with PLA and PCAG in Border Collies from the United Kingdom. Methods The OLFML3 variant was genotyped in 106 Border Collies comprising 90 with normal eyes (controls) and 16 with PLA (n = 11) and/or PCAG (n = 5) (cases). Genotyping was performed in an additional 103 Border Collies to estimate variant frequency within the population. To investigate the association of the variant with disease in other breeds, genotyping was performed in 337 non-Border Collies with PLA and/or PCAG. Results Of the 90 controls, 71 were homozygous for the wild-type allele, two were homozygous for the variant, and 17 were heterozygous. Of the 16 cases, three were homozygous for the wild-type allele, 11 were homozygous for the variant, and two were heterozygous. The association of the variant allele with disease was significant (P = 1.1 x 10-9 ). We estimated the frequency of this variant to be 4.4% within the United Kingdom Border Collie population, and it was not identified in clinically affected dogs of any other breed. Conclusions This study confirms the association of the OLFML3 variant with PLA and PCAG in Border Collies from the United Kingdom. DNA testing for the variant and selective breeding can reasonably be expected to result in a reduction of PLA and PCAG prevalence in the breed.
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Primary Closed Angle Glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies
Molecular vision, 2019Co-Authors: James A. C. Oliver, Sally L. Ricketts, Markus H. Kuehn, Cathryn S. MellershAbstract:Purpose To investigate the genetic basis of primary Closed Angle Glaucoma (PCAG) in European Basset Hounds using genome-wide association and RNA sequencing strategies. Methods DNA samples from 119 European Basset Hounds were genotyped on the 170 K SNP CanineHD BeadChip array (Illumina) comprising 37 with normal iridocorneal Angles (controls), 57 with pectinate ligament abnormality (PLA cases), and 25 with PCAG (PCAG cases). Genome-wide association studies (GWASs) of the PLA and PCAG cases were conducted. Whole transcriptome sequences of iridocorneal Angle tissues from five Basset Hounds with PCAG were compared with those from four dogs with normal eyes to investigate differences in gene expression between the affected and unaffected eyes in GWAS-associated loci. A variant in NEB, previously reported to be associated with PCAG in American Basset Hounds, was genotyped in cohorts of European Basset Hounds and non-Basset Hounds. Results The GWASs revealed 1.4 and 0.2 Mb regions, on chromosomes 24 and 37, respectively, that are statistically associated with PCAG. The former locus has previously been associated with Glaucoma in humans. Whole transcriptome analysis revealed differential gene expression of eight genes within these two loci. The NEB variant was not associated with PLA or PCAG in this set of European Basset Hounds. Conclusions We identified two novel loci for canine PCAG. Further investigation is required to elucidate candidate variants that underlie canine PCAG.
M G Uva - One of the best experts on this subject based on the ideXlab platform.
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surgical management of Closed Angle Glaucoma our experience
International Ophthalmology, 1992Co-Authors: Alfredo Reibaldi, M G UvaAbstract:In this paper we present our experience of the last three years in the surgical treatment of eyes with Closed Angle Glaucoma. We have performed an extracapsular lens extraction and posterior chamber intraocular lens implantation on 34 eyes of 34 patients. All of them were affected by Closed Angle Glaucoma with variable control after a Yag laser iridotomy: 6 eyes had high I.O.P. notwithstanding maximal therapy, 11 eyes had I.O.P. under control (less than 21 mmHg) without therapy, 9 with I.O.P. controlled with topical therapy, 8 with I.O.P. controlled with maximal therapy (C.A.I, included). The cases with well controlled Glaucoma were operated on because of the presence of a more or less significant lens opacities. After a follow-up of up to 40 months (mean=20.3, range=1–40), all eyes show satisfactory intraocular pressure and no eye needed a filtering procedure. The results of our studies are as follows (values are mean±SD). In the group of 6 eyes with high I.O.P., the mean pre-operative intraocular pressure was 29.7±5.6 mmHg and the mean post-operative I.O.P. was 15.1±1.4mmHg. The mean reduction was 14.5±6.6mmHg (p<0.005). In the 28 eyes with pre-operative I.O.P. under control (17.5±1.6), the mean post-operative I.O.P. was 14.4±2.3 mmHg, with a mean reduction of 3.1±3.1 mmHg (p< 0.005). Before the E.C.C.E., 11 eyes had I.O.P. less than 21 mmHg without anti-Glaucoma medication, whereas after the E.C.C.E. 28 eyes did not need such a medication. No significant correlation was found between pre-operative and post-operative extension of peripheral anterior synechiae (when assessable) and post-operative intraocular pressure control. The difference between pre- and post-operative anterior chamber depth measured by ultrasonic biometry was remarkable, i.e. M=1.93+0.36mm and 3.42±0.2mm (pre-operative and post-operative, respectively; p<0.005).
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Surgical management of Closed Angle Glaucoma: our experience.
International ophthalmology, 1992Co-Authors: Alfredo Reibaldi, M G UvaAbstract:In this paper we present our experience of the last three years in the surgical treatment of eyes with Closed Angle Glaucoma. We have performed an extracapsular lens extraction and posterior chamber intraocular lens implantation on 34 eyes of 34 patients. All of them were affected by Closed Angle Glaucoma with variable control after a Yag laser iridotomy: 6 eyes had high I.O.P. notwithstanding maximal therapy, 11 eyes had I.O.P. under control (less than 21 mmHg) without therapy, 9 with I.O.P. controlled with topical therapy, 8 with I.O.P. controlled with maximal therapy (C.A.I. included). The cases with well controlled Glaucoma were operated on because of the presence of a more or less significant lens opacities. After a follow-up of up to 40 months (mean = 20.3, range = 1-40), all eyes show satisfactory intraocular pressure and no eye needed a filtering procedure. The results of our studies are as follows (values are mean +/- SD). In the group of 6 eyes with high I.O.P., the mean pre-operative intraocular pressure was 29.7 +/- 5.6 mmHg and the mean post-operative I.O.P. was 15.1 +/- 1.4 mmHg. The mean reduction was 14.5 +/- 6.6 mmHg (p < 0.005). In the 28 eyes with pre-operative I.O.P. under control (17.5 +/- 1.6), the mean post-operative I.O.P. was 14.4 +/- 2.3 mmHg, with a mean reduction of 3.1 +/- 3.1 mmHg (p < 0.005). Before the E.C.C.E., 11 eyes had I.O.P. less than 21 mmHg without anti-Glaucoma medication, whereas after the E.C.C.E. 28 eyes did not need such a medication.(ABSTRACT TRUNCATED AT 250 WORDS)
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Ein neues chirurgisches Vorgehen beim Winkelblockglaukom
Klinische Monatsblatter fur Augenheilkunde, 1992Co-Authors: Alfredo Reibaldi, M G Uva, J. P. Ott, V RussoAbstract:Authors show the results obtained in 29 eyes of 29 patients with Closed Angle Glaucoma operated with ECCE plus posterior chamber IOL implantation. After a follow up varying from 1 to 35 months (mean = 20.7) all eyes are under good control (25 without therapy, 4 with topical therapy) of I.O.P. Authors report on the "rationale" of their surgical approach: particular anatomo-functional features of the eyes affected by Closed Angle Glaucoma. Pre-op. and post-op. biometrical and gonioscopical findings are described and discussed.
Raheel Qamar - One of the best experts on this subject based on the ideXlab platform.
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MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open Angle and primary Closed Angle Glaucoma.
Molecular vision, 2009Co-Authors: Shazia Micheal, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Muhammad Imran Khan, Asifa AhmedAbstract:Purpose: To investigate the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genotypes and plasma concentrations of total homocysteine (tHcy) in Pakistani patients with primary open Angle Glaucoma (POAG) and primary Closed Angle Glaucoma (PCAG). Methods: This was a prospective case-control study. A total of 295 patients (173 POAG, 122 PCAG) and 143 age- and sex-matched controls were subdivided into two ethnic groups, Punjabis (Punjab province, central Pakistan) and Pathans (North-West Frontier Province, northern Pakistan). Genotypes of the MTHFR C677T and A1298C polymorphisms were detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). An enzyme-linked immunosorbent assay was used to determine the total serum homocysteine (tHcy) levels. Associations were determined by logistic regression analysis. Results: Frequency distributions of genotypes and combined genotypes as well as homocysteine levels were obtained. The overall distribution of the C677T genotype was found to be significantly associated with PCAG (CC 69%, CT 21%, TT 10%; p=0.001, χ 2 =12.6), but not with POAG (CC 71%, CT 28%, TT 1%; p=0.98, χ 2 =0.02) as compared to the controls (CC 71%, CT 29%, TT 1%). The Pathan cohorts revealed no association with the disease; however, the Punjabis demonstrated a significant association with PCAG (CC 75%, CT 11%, TT 13%; p
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mthfr gene c677t and a1298c polymorphisms and homocysteine levels in primary open Angle and primary Closed Angle Glaucoma
Molecular Vision, 2009Co-Authors: Shazia Micheal, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Muhammad Imran Khan, Asifa AhmedAbstract:Purpose: To investigate the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genotypes and plasma concentrations of total homocysteine (tHcy) in Pakistani patients with primary open Angle Glaucoma (POAG) and primary Closed Angle Glaucoma (PCAG). Methods: This was a prospective case-control study. A total of 295 patients (173 POAG, 122 PCAG) and 143 age- and sex-matched controls were subdivided into two ethnic groups, Punjabis (Punjab province, central Pakistan) and Pathans (North-West Frontier Province, northern Pakistan). Genotypes of the MTHFR C677T and A1298C polymorphisms were detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). An enzyme-linked immunosorbent assay was used to determine the total serum homocysteine (tHcy) levels. Associations were determined by logistic regression analysis. Results: Frequency distributions of genotypes and combined genotypes as well as homocysteine levels were obtained. The overall distribution of the C677T genotype was found to be significantly associated with PCAG (CC 69%, CT 21%, TT 10%; p=0.001, χ 2 =12.6), but not with POAG (CC 71%, CT 28%, TT 1%; p=0.98, χ 2 =0.02) as compared to the controls (CC 71%, CT 29%, TT 1%). The Pathan cohorts revealed no association with the disease; however, the Punjabis demonstrated a significant association with PCAG (CC 75%, CT 11%, TT 13%; p<0.001, χ2=17.2). PCAG in the Punjabi subjects was also significantly associated with the A1298C polymorphism (AA 43%, AC 54%, CC 3%; p<0.001, χ2=33.9) as compared to the controls. Combined genotype data showed no association with POAG; however, a significant association with all combined genotypes was observed in the overall PCAG subjects (p<0.05, χ 2 =20.1). This difference was particularly apparent in the TTAA and TTAC combinations that were completely absent in the control groups (p<0.05. χ2=49.6). Mean serum tHcy levels were found to be significantly increased in the POAG (15.2±1.28 µmol/l, p<0.001) and PCAG (20.8±4.8 µmol/l) groups as compared to the controls (10.0±0.97 µmol/l). The tHcy levels in the TT and AC genotype were significantly elevated in the PCAG group (67±12.39 µmol/l, p<0.001; 23±5.94 µmol/l, p=0.027) as compared to the controls. Conclusion: The TT and AC genotypes of MTHFR C677T and A1298C polymorphisms and the combined genotype TTAC were associated with PCAG in Punjabi subjects of Pakistani origin and correlated with the high serum tHcy levels seen in these patients.
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C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary Closed Angle Glaucoma.
Molecular vision, 2008Co-Authors: Shazia Michael, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Asifa AhmedAbstract:Purpose: To determine whether or not there is an association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with disease in cohorts of primary open-Angle Glaucoma (POAG) and primary Closed-Angle Glaucoma (PCAG) from Pakistan. Methods: This was a prospective study consisting of 150 patients (90 POAG and 60 PCAG) and 70 control subjects. Genomic DNA was extracted from leukocytes of the peripheral blood. MTHFR C677T polymorphism analysis was performed by the polymerase chain reaction-restriction fragment length polymorphism (RFLP) technique. Results: The prevalence of the MTHFR C/T genotype was 22.2% in POAG, 13.3% in PACG, and 18.6% in controls whereas the MTHFR T/T genotype was present solely in the PACG group (6.9%). The difference regarding the T/T genotype between PACG and controls was statistically significant (p
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c677t polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary Closed Angle Glaucoma
Molecular Vision, 2008Co-Authors: Shazia Michael, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Asifa AhmedAbstract:Purpose: To determine whether or not there is an association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with disease in cohorts of primary open-Angle Glaucoma (POAG) and primary Closed-Angle Glaucoma (PCAG) from Pakistan. Methods: This was a prospective study consisting of 150 patients (90 POAG and 60 PCAG) and 70 control subjects. Genomic DNA was extracted from leukocytes of the peripheral blood. MTHFR C677T polymorphism analysis was performed by the polymerase chain reaction-restriction fragment length polymorphism (RFLP) technique. Results: The prevalence of the MTHFR C/T genotype was 22.2% in POAG, 13.3% in PACG, and 18.6% in controls whereas the MTHFR T/T genotype was present solely in the PACG group (6.9%). The difference regarding the T/T genotype between PACG and controls was statistically significant (p<0.01). Conclusions: The MTHFR C677T polymorphism was found to be associated with PCAG but not POAG in patients of Pakistani origin.
Farah Akhtar - One of the best experts on this subject based on the ideXlab platform.
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MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open Angle and primary Closed Angle Glaucoma.
Molecular vision, 2009Co-Authors: Shazia Micheal, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Muhammad Imran Khan, Asifa AhmedAbstract:Purpose: To investigate the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genotypes and plasma concentrations of total homocysteine (tHcy) in Pakistani patients with primary open Angle Glaucoma (POAG) and primary Closed Angle Glaucoma (PCAG). Methods: This was a prospective case-control study. A total of 295 patients (173 POAG, 122 PCAG) and 143 age- and sex-matched controls were subdivided into two ethnic groups, Punjabis (Punjab province, central Pakistan) and Pathans (North-West Frontier Province, northern Pakistan). Genotypes of the MTHFR C677T and A1298C polymorphisms were detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). An enzyme-linked immunosorbent assay was used to determine the total serum homocysteine (tHcy) levels. Associations were determined by logistic regression analysis. Results: Frequency distributions of genotypes and combined genotypes as well as homocysteine levels were obtained. The overall distribution of the C677T genotype was found to be significantly associated with PCAG (CC 69%, CT 21%, TT 10%; p=0.001, χ 2 =12.6), but not with POAG (CC 71%, CT 28%, TT 1%; p=0.98, χ 2 =0.02) as compared to the controls (CC 71%, CT 29%, TT 1%). The Pathan cohorts revealed no association with the disease; however, the Punjabis demonstrated a significant association with PCAG (CC 75%, CT 11%, TT 13%; p
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mthfr gene c677t and a1298c polymorphisms and homocysteine levels in primary open Angle and primary Closed Angle Glaucoma
Molecular Vision, 2009Co-Authors: Shazia Micheal, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Muhammad Imran Khan, Asifa AhmedAbstract:Purpose: To investigate the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genotypes and plasma concentrations of total homocysteine (tHcy) in Pakistani patients with primary open Angle Glaucoma (POAG) and primary Closed Angle Glaucoma (PCAG). Methods: This was a prospective case-control study. A total of 295 patients (173 POAG, 122 PCAG) and 143 age- and sex-matched controls were subdivided into two ethnic groups, Punjabis (Punjab province, central Pakistan) and Pathans (North-West Frontier Province, northern Pakistan). Genotypes of the MTHFR C677T and A1298C polymorphisms were detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). An enzyme-linked immunosorbent assay was used to determine the total serum homocysteine (tHcy) levels. Associations were determined by logistic regression analysis. Results: Frequency distributions of genotypes and combined genotypes as well as homocysteine levels were obtained. The overall distribution of the C677T genotype was found to be significantly associated with PCAG (CC 69%, CT 21%, TT 10%; p=0.001, χ 2 =12.6), but not with POAG (CC 71%, CT 28%, TT 1%; p=0.98, χ 2 =0.02) as compared to the controls (CC 71%, CT 29%, TT 1%). The Pathan cohorts revealed no association with the disease; however, the Punjabis demonstrated a significant association with PCAG (CC 75%, CT 11%, TT 13%; p<0.001, χ2=17.2). PCAG in the Punjabi subjects was also significantly associated with the A1298C polymorphism (AA 43%, AC 54%, CC 3%; p<0.001, χ2=33.9) as compared to the controls. Combined genotype data showed no association with POAG; however, a significant association with all combined genotypes was observed in the overall PCAG subjects (p<0.05, χ 2 =20.1). This difference was particularly apparent in the TTAA and TTAC combinations that were completely absent in the control groups (p<0.05. χ2=49.6). Mean serum tHcy levels were found to be significantly increased in the POAG (15.2±1.28 µmol/l, p<0.001) and PCAG (20.8±4.8 µmol/l) groups as compared to the controls (10.0±0.97 µmol/l). The tHcy levels in the TT and AC genotype were significantly elevated in the PCAG group (67±12.39 µmol/l, p<0.001; 23±5.94 µmol/l, p=0.027) as compared to the controls. Conclusion: The TT and AC genotypes of MTHFR C677T and A1298C polymorphisms and the combined genotype TTAC were associated with PCAG in Punjabi subjects of Pakistani origin and correlated with the high serum tHcy levels seen in these patients.
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C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary Closed Angle Glaucoma.
Molecular vision, 2008Co-Authors: Shazia Michael, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Asifa AhmedAbstract:Purpose: To determine whether or not there is an association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with disease in cohorts of primary open-Angle Glaucoma (POAG) and primary Closed-Angle Glaucoma (PCAG) from Pakistan. Methods: This was a prospective study consisting of 150 patients (90 POAG and 60 PCAG) and 70 control subjects. Genomic DNA was extracted from leukocytes of the peripheral blood. MTHFR C677T polymorphism analysis was performed by the polymerase chain reaction-restriction fragment length polymorphism (RFLP) technique. Results: The prevalence of the MTHFR C/T genotype was 22.2% in POAG, 13.3% in PACG, and 18.6% in controls whereas the MTHFR T/T genotype was present solely in the PACG group (6.9%). The difference regarding the T/T genotype between PACG and controls was statistically significant (p
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c677t polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary Closed Angle Glaucoma
Molecular Vision, 2008Co-Authors: Shazia Michael, Raheel Qamar, Farah Akhtar, Wajid Ali Khan, Asifa AhmedAbstract:Purpose: To determine whether or not there is an association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with disease in cohorts of primary open-Angle Glaucoma (POAG) and primary Closed-Angle Glaucoma (PCAG) from Pakistan. Methods: This was a prospective study consisting of 150 patients (90 POAG and 60 PCAG) and 70 control subjects. Genomic DNA was extracted from leukocytes of the peripheral blood. MTHFR C677T polymorphism analysis was performed by the polymerase chain reaction-restriction fragment length polymorphism (RFLP) technique. Results: The prevalence of the MTHFR C/T genotype was 22.2% in POAG, 13.3% in PACG, and 18.6% in controls whereas the MTHFR T/T genotype was present solely in the PACG group (6.9%). The difference regarding the T/T genotype between PACG and controls was statistically significant (p<0.01). Conclusions: The MTHFR C677T polymorphism was found to be associated with PCAG but not POAG in patients of Pakistani origin.