Document Detail

Contribution of TGFβ1 Codon 10 Polymorphism to High Myopia in an Ethnic Kashmiri Population from India.
MedLine Citation:
PMID:  23325483     Owner:  NLM     Status:  Publisher    
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.
Shabhat Rasool; Ishfaq Ahmed; Rubiya Dar; Sheikh Gazalla Ayub; Sabia Rashid; Tariq Jan; Tahir Ahmed; Niyaz A Naikoo; Khurshid I Andrabi
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-17
Journal Detail:
Title:  Biochemical genetics     Volume:  -     ISSN:  1573-4927     ISO Abbreviation:  Biochem. Genet.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0126611     Medline TA:  Biochem Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Biotechnology, Science Block, University of Kashmir, Hazratbal, Srinagar, 190006, Jammu and Kashmir, India,
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