Tags

Type your tag names separated by a space and hit enter

Is the variant c.422+90G → A in intron 4 of indoleamine 2, 3 -dioxygenase (IDO) gene related to age related cataracts?
Mol Vis. 2011; 17:1203-8.MV

Abstract

PURPOSE

To screen for sequence variations in the IDO gene that encodes indoleamine 2, 3- dioxygenase (IDO), the first rate limiting enzyme involved in the tryptophan catabolism which results in the production of UV filters playing a role in the maintenance of lens transparency.

METHODS

We conducted a case-control study to screen for sequence changes in the IDO gene and associated demographic risk factors in patients with nuclear (NC-110), cortical (CC-110) and Posterior sub capsular (PSC-111) cataracts in comparison to normal controls (210) from Hyderabad, India.

RESULTS

Among the cataract types studied high risk was observed for CC and PSC types in female patients, individuals with low body mass index and smoking habit. Cataract development had early onset more frequently in cases of PSC followed by CC and NC. Screening by single strand conformation polymorphism (SSCP) revealed mobility shifts in 6 of the 331 patient (3 with NC and 3 with PSC) samples which upon sequencing confirmed the presence of G → A transition (c.422+90G → A; rs4613984) in the intron downstream to exon 4 of IDO which was further tested by RFLP analysis using the HhaI restriction enzyme. Of the 6 patients, one with nuclear cataract showed homozygosity and the remaining five showed heterozygosity for the substitution. None of the control samples showed this variation.

CONCLUSIONS

It is possible that the substitution c.422+90G → A; rs4613984 in an intron downstream to exon 4 of IDO may be related with cataract formation among the aged.

Authors+Show Affiliations

Department of Genetics, Osmania University, Hyderabad, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21617756

Citation

Mamata, M, et al. "Is the Variant c.422+90G → a in Intron 4 of Indoleamine 2, 3 -dioxygenase (IDO) Gene Related to Age Related Cataracts?" Molecular Vision, vol. 17, 2011, pp. 1203-8.
Mamata M, Sridhar G, Reddy KR, et al. Is the variant c.422+90G → A in intron 4 of indoleamine 2, 3 -dioxygenase (IDO) gene related to age related cataracts? Mol Vis. 2011;17:1203-8.
Mamata, M., Sridhar, G., Reddy, K. R., Nagaraju, T., & Padma, T. (2011). Is the variant c.422+90G → A in intron 4 of indoleamine 2, 3 -dioxygenase (IDO) gene related to age related cataracts? Molecular Vision, 17, 1203-8.
Mamata M, et al. Is the Variant c.422+90G → a in Intron 4 of Indoleamine 2, 3 -dioxygenase (IDO) Gene Related to Age Related Cataracts. Mol Vis. 2011;17:1203-8. PubMed PMID: 21617756.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Is the variant c.422+90G → A in intron 4 of indoleamine 2, 3 -dioxygenase (IDO) gene related to age related cataracts? AU - Mamata,M, AU - Sridhar,G, AU - Reddy,K Ravi Kumar, AU - Nagaraju,T, AU - Padma,T, Y1 - 2011/05/05/ PY - 2010/11/09/received PY - 2011/04/29/accepted PY - 2011/5/28/entrez PY - 2011/5/28/pubmed PY - 2011/9/21/medline SP - 1203 EP - 8 JF - Molecular vision JO - Mol. Vis. VL - 17 N2 - PURPOSE: To screen for sequence variations in the IDO gene that encodes indoleamine 2, 3- dioxygenase (IDO), the first rate limiting enzyme involved in the tryptophan catabolism which results in the production of UV filters playing a role in the maintenance of lens transparency. METHODS: We conducted a case-control study to screen for sequence changes in the IDO gene and associated demographic risk factors in patients with nuclear (NC-110), cortical (CC-110) and Posterior sub capsular (PSC-111) cataracts in comparison to normal controls (210) from Hyderabad, India. RESULTS: Among the cataract types studied high risk was observed for CC and PSC types in female patients, individuals with low body mass index and smoking habit. Cataract development had early onset more frequently in cases of PSC followed by CC and NC. Screening by single strand conformation polymorphism (SSCP) revealed mobility shifts in 6 of the 331 patient (3 with NC and 3 with PSC) samples which upon sequencing confirmed the presence of G → A transition (c.422+90G → A; rs4613984) in the intron downstream to exon 4 of IDO which was further tested by RFLP analysis using the HhaI restriction enzyme. Of the 6 patients, one with nuclear cataract showed homozygosity and the remaining five showed heterozygosity for the substitution. None of the control samples showed this variation. CONCLUSIONS: It is possible that the substitution c.422+90G → A; rs4613984 in an intron downstream to exon 4 of IDO may be related with cataract formation among the aged. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/21617756/Is_the_variant_c_422+90G_→_A_in_intron_4_of_indoleamine_2_3__dioxygenase__IDO__gene_related_to_age_related_cataracts L2 - http://www.molvis.org/molvis/v17/a135/ DB - PRIME DP - Unbound Medicine ER -