IthaID: 2911

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	Sp1 polymorphism	HGVS Name:	NG_007400.1:g.6252G>T

Context nucleotide sequence:
CGCCACCCCACCTGCCCAGGGAATG [G/T] GGGCGGGATGAGGGCTGGACCTCCC (Strand: -)

Also known as: rs1800012

Comments: The Sp1 polymorphism associated with low bone mineral density and predisposition to osteoporosis in β-thalassaemia major cohorts from Italy (n=135) and Turkey (37 cases; 92 controls).

External Links

dbSNP

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	N/A
Associated Phenotypes:	Osteoporosis [HP:0000939] [OMIM:166710]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	17
Locus:	NG_007400.1
Locus Location:	6252
Size:	1 bp
Located at:	COL1A1
Specific Location:	Intron 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Italian, Turkish
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

Sequence Viewer

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Publications / Origin

Arisal O, Deviren A, Fenerci EY, Hacihanefioglu S, Ulutin T, Erkmen S, Buyru N, Polymorphism analysis in the COLIA1 gene of patients with thalassemia major and intermedia., Haematologia (Budap) , 32(4), 475-82, 2002 PubMed
Guzeloglu-Kayisli O, Cetin Z, Keser I, Ozturk Z, Tuncer T, Canatan D, Luleci G, Relationship between SP1 polymorphism and osteoporosis in beta-thalassemia major patients., Pediatr Int , 50(4), 474-6, 2008 PubMed
Hamed HM, Galal A, Ghamrawy ME, Abd El Azeem K, Hussein IR, Abd-Elgawad MF, An SP1-binding site polymorphism in the COLIAI gene and osteoporosis in Egyptian patients with thalassemia major., Blood Coagul. Fibrinolysis , 22(2), 81-5, 2011 PubMed

Created on 2016-05-23 17:46:54, Last reviewed on 2016-05-23 17:48:17 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-05-23 17:46:54	The IthaGenes Curation Team	Created
2	2016-05-23 17:48:17	The IthaGenes Curation Team	Reviewed.

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