PhenoModifier-Variant Detail

Variant "TCF7L2:c.876-1026C>T"

Search result: 1 record

Variant information

Gene:

TCF7L2

Variant:

TCF7L2:c.876-1026C>T

Genomic location:

chr10:114909731(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001146274.1:c.876-1026C>T
protein_coding	NM_001146283.1:c.948-1026C>T
protein_coding	NM_001146284.1:c.795-1026C>T
protein_coding	NM_001146285.1:c.807-1026C>T
protein_coding	NM_001146286.1:c.807-1026C>T
protein_coding	NM_001198525.1:c.807-1011C>T
protein_coding	NM_001198526.1:c.807-1026C>T
protein_coding	NM_001198527.1:c.795-1026C>T
protein_coding	NM_001198528.1:c.807-1026C>T
protein_coding	NM_001198529.1:c.807-1026C>T
protein_coding	NM_001198530.1:c.705-1026C>T
protein_coding	NM_001198531.1:c.876-1026C>T
protein_coding	NM_030756.4:c.807-1026C>T
show all

dbSNP ID:

rs290487

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered susceptibility(1)

Detail：

Target disease:

Type 2 Diabetes Mellitus (DOID_9352)

Effect type:

Expressivity

Modifier effect:

Altered susceptibility

Evidence:

OR=1.184, 95% CI: 1.008-1.391

Effect:

rs290487T was found to be significantly associated with disease susceptibility (p=0.039)

Reference:

PMID22245614

Title:

Genetic variants of TCF7L2 are associated with type 2 diabetes in a northeastern Chinese population.

Species studied:

Human

Abstract:

Variants in the gene encoding transcription factor 7-like 2 (TCF7L2) are associated with type 2 diabetes mellitus (T2D) in several ethnic groups. Two intronic variants, rs290487 and rs11196218, were originally identified as T2D modifiers in Hong Kong Chinese and Taiwan Chinese populations, respectively. However, discrepancies were noted in subsequent replicated studies. In this study, an association of these two loci with T2D was investigated in a Harbin Chinese population. Whereas the two populations in the initial studies were southern Han Chinese, Harbin Chinese are from northeastern China. The SNPs rs290487 and rs11196218 were genotyped by ligase detection reactions in 700 T2D patients and 570 unrelated non-diabetic controls. Association analyses, which were carried out using the case-control sample set, yielded a significant association between rs290487 and T2D, with a trend opposite to that described in a previous report. Specifically, rs290487T was found to be significantly associated with disease susceptibility (p=0.039), and the allelic OR of rs290487T carriers was 1.184 (95% CI 1.008-1.391). There was no significant association between rs11196218 and T2D. Taken together, TCF7L2 may be an important susceptibility gene for T2D in some Chinese populations. The discrepancies in the allelic associations determined for northern vs. southern Chinese allude to the presence of genetic variation among the Han Chinese.