title: Contribution of TGFβ1 codon 10 polymorphism to high myopia in an ethnic Kashmiri population from India.
abstract: This study looks at novel variants of the TGFβ1 gene and their potential association with high myopia in an ethnic population from Kashmir, India. Allele frequencies of 247 Kashmiri subjects (from India) with high myopia and 176 ethnically matched healthy controls were tested for Hardy-Weinberg disequilibrium. The genotype and allele frequencies were evaluated using chi-square or Fisher's exact tests. One of the three SNPs in codon 10 showed a significant difference between patients and control subjects (rs1982073: p genotype = 0.003, p allele = 0.001). There were no statistically significant differences between patients and control subjects for the other two SNPs, rs1800471 at codon 25 and a novel variant at codon 52. SNP rs1982073, substituting proline with leucine, appeared to be significantly associated with high myopia (p < 0.05). In silico predictions show that substitutions are likely to have an impact on the structure and functional properties of the protein, making it imperative to understand their functional consequences in relation to high myopia.
authors: Department of Biotechnology, Science Block, University of Kashmir, Hazratbal, Srinagar, 190006, Jammu and Kashmir, India. shabhat_rasool@yahoo.com
authors: Shabhat
authors: S
authors: Rasool
authors: Ishfaq
authors: I
authors: Ahmed
authors: Rubiya
authors: R
authors: Dar
authors: Sheikh Gazalla
authors: SG
authors: Ayub
authors: Sabia
authors: S
authors: Rashid
authors: Tariq
authors: T
authors: Jan
authors: Tahir
authors: T
authors: Ahmed
authors: Niyaz A
authors: NA
authors: Naikoo
authors: Khurshid I
authors: KI
authors: Andrabi
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D015331:Cohort Studies; D005838:Genotype; D006801:Humans; D007194:India / Q000208:ethnology; D020125:Mutation, Missense; D009216:Myopia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA / Q000379:methods; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1