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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

INTS8  -  integrator complex subunit 8

Homo sapiens

Synonyms: C8orf52, FLJ20530, INT8, Int8, Integrator complex subunit 8, ...
 
 
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Psychiatry related information on INTS8

  • Repeat polymorphisms, including a 30-bp variable-number tandem repeat (VNTR) in intron 8 (Int8 VNTR) with two common alleles, were genotyped in cocaine-dependent abusers (n = 699) and in controls with no past history of drug abuse (n = 866) from São Paulo, Brazil [1].
 

High impact information on INTS8

  • Haplotypic analyses using additional polymorphisms indicated that the Int8 VNTR is responsible for the observed association [1].
  • Positive association was observed with allele 3 of the Int8 VNTR and cocaine abuse (allele odds ratio = 1.2, 95% confidence interval = 1.01-1.37, P = 0.036; 3/3 homozygote odds ratio = 1.45, 95% confidence interval = 1.18-1.78, P = 0.0008) [1].
  • The patient was a compound heterozygote for novel mutations consisting of a G-to-T transversion at the first nucleotide of exon 5 [+1 position of 3' acceptor splice site (3'-ass) of intron 4] and a T-to-C transition in the invariant GT at position +2 of the 5' donor splice site (5'-dss) of intron 8 (Int8/5'-dss/t(+2)c) [2].
  • RESULTS: The patient's father and paternal grandmother were heterozygotes for the Int8/5'-dss/t(+2)c allele, while the patient's mother and maternal grandmother were heterozygotes for the G154V allele [3].

References

  1. A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample. Guindalini, C., Howard, M., Haddley, K., Laranjeira, R., Collier, D., Ammar, N., Craig, I., O'Gara, C., Bubb, V.J., Greenwood, T., Kelsoe, J., Asherson, P., Murray, R.M., Castelo, A., Quinn, J.P., Vallada, H., Breen, G. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  2. Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8. Ikeda, Y., Takagi, A., Nakata, Y., Sera, Y., Hyoudou, S., Hamamoto, K., Nishi, Y., Yamamoto, A. J. Lipid Res. (2001) [Pubmed]
  3. A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency. Ikeda, Y., Takagi, A., Nakata, Y., Sera, Y., Hyoudou, S., Hamamoto, K., Nishi, Y., Yamamoto, A. Clin. Chim. Acta (2002) [Pubmed]
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