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Researchers discover susceptibility gene for lupus
SCIENCE AND MEDICINE
Region more important than race in colorectal cancer screening disparity describe a predominantly rural and African-American subregion of the south, which includes counties with high levels of poverty, unemployment, and relatively high rates of preventable cancers (Cancer 2002;
Rights were not granted to include this image in electronic media. Please refer to the printed journal. Colonoscopy rates vary less by race
95: 2211–22). These rates were compared with those of individuals living in non-Black Belt counties and elsewhere in the USA. Results showed similar mammography rates (66·3% vs 69·3%) and Pap test rates (85·7% vs 83·4%) in the Black Belt region among black and white women, respectively. However, only 29·3% of black women in the region reported ever receiving a faecal occult blood in the stool test (FOBT), compared with
Researchers discover susceptibility gene for lupus
A
n international team of researchers has discovered evidence that, in some western populations, there is a strong link between genetic makeup and susceptibility to the chronic autoimmune disorder, systemic lupus erythematosus (SLE). The researchers screened the genomes of more than 2500 individuals with SLE from Europe and Mexico—including members of five independent sets of families and unrelated individuals—and healthy controls. They found that a particular single nucleotide polymorphism of the programmed cell death 1 gene (PDCD1) is present up to three times more frequently in SLE patients than it is among healthy controls (Nat Genet, published online Oct 28, 2002; DOI: 10.1038/ng1020). Previous research on mice with a lupus-like disease led the researchers to the location on chromosome 2 where the PDCD1 gene is found, says Marta AlarcónRiquelme (University of Uppsala, Sweden), who led the team.
“This is a very important finding”, says Tim Behrens (University of Minnesota Medical School, Minneapolis, MN, USA). “PDCD1 is really the first gene identified in human lupus localised primarily by a genome-wide screen in families with multiple cases of the disease.” Behrens adds that the PDCD1 gene is involved in controlling immune responses. “If the disease gene has an impaired ability to downregulate certain autoimmune responses”, he says, “this could directly contribute to the overactive humoral immune responses and autoantibody production that we see in patients with SLE”. Robert Kimberly (University of Alabama at Birmingham, AL, USA) says that these results bolster the idea that several genes, in conjunction with environmental factors, contribute to lupus. At least five other locations on the human genome have been implicated in the development of the disease, he notes.
Science Photo Library
acial and regional disparities in cancer screening still persist, report US researchers this week. The investigators found that colorectal cancer screening rates were lower for rural residents than non-rural residents, and for AfricanAmericans living in 11 south US states, compared with whites in these states and with African-Americans in other parts of the USA. Less disparity, however, was noted for cervical and breast cancer screening. The major finding of the study was that racial differences were less notable than regional differences, explains senior researcher Steven Coughlin, an epidemiologist with the Division of Cancer Prevention and Control at the Centers for Disease Control and Prevention (Atlanta, GA, USA). Coughlin and colleagues used the Behavioral Risk Factor Surveillance System (BRFSS) colorectal cancer screening data for 1997 and 1999 and the BRFSS breast and cervical cancer screening data for 1998–2000 to evaluate screening rates in AfricanAmerican and white residents (2165–5888 women and 1198 men) of the “Black Belt”, a term used to
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36·9% in non-Black Belt counties, and 42·5% in the rest of the USA. For white women, rates of FOBT were 37·7%, 44%, and 45·3%, respectively. Similar patterns were noted among both men and women for FOBT, flexible sigmoidoscopy, and colonoscopy. “These results underscore the need for continued efforts to ensure that adults in the non-metropolitan south receive educational messages, outreach, and provider recommendations about the importance of routine cancer screening”, says Coughlin. We need to get the message out to people that they are at risk, and there are safe and available preventive tests available, comments Douglas Rex (Indiana University School of Medicine, Indianapolis, IN, USA). “This study has identified an additional risk factor—which is rural location”, he adds. “And at least in this study, it is, overall, more important than race. So it helps to point us in another direction where our educational efforts need to be directed.” Roxanne Nelson
News in brief Warning over anticoagulant drug Five patients have died after having severe anaphylactic reactions to the anticoagulant lepirudin, according to a statement issued by the European Medicines Evaluation Agency (EMEA) on Oct 29. The anaphylactic reaction often occurred after re-exposure to the drug, and in several cases the drug was prescribed outside its approved indication (http://www. emea.eu.int). Statins and Alzheimer’s disease Treatment with statins at clinically relevant doses affects cholesterol turnover in the CNS, but has no effects on CNS concentrations of amyloid peptide (A), according to the results of a case-control study published this week. “In clinically relevant doses, statins may not have major effects on A secretion as a currently discussed strategy to halt progression of Alzheimer’s disease”, the researchers conclude (Neurology 2002; 59: 1257–58).
David Lawrence
THE LANCET • Vol 360 • November 2, 2002 • www.thelancet.com
1399
For personal use. Only reproduce with permission from The Lancet Publishing Group.
Region more important than race in colorectal cancer screening disparity describe a predominantly rural and African-American subregion of the south, which includes counties with high levels of poverty, unemployment, and relatively high rates of preventable cancers (Cancer 2002;
Rights were not granted to include this image in electronic media. Please refer to the printed journal. Colonoscopy rates vary less by race
95: 2211–22). These rates were compared with those of individuals living in non-Black Belt counties and elsewhere in the USA. Results showed similar mammography rates (66·3% vs 69·3%) and Pap test rates (85·7% vs 83·4%) in the Black Belt region among black and white women, respectively. However, only 29·3% of black women in the region reported ever receiving a faecal occult blood in the stool test (FOBT), compared with
Researchers discover susceptibility gene for lupus
A
n international team of researchers has discovered evidence that, in some western populations, there is a strong link between genetic makeup and susceptibility to the chronic autoimmune disorder, systemic lupus erythematosus (SLE). The researchers screened the genomes of more than 2500 individuals with SLE from Europe and Mexico—including members of five independent sets of families and unrelated individuals—and healthy controls. They found that a particular single nucleotide polymorphism of the programmed cell death 1 gene (PDCD1) is present up to three times more frequently in SLE patients than it is among healthy controls (Nat Genet, published online Oct 28, 2002; DOI: 10.1038/ng1020). Previous research on mice with a lupus-like disease led the researchers to the location on chromosome 2 where the PDCD1 gene is found, says Marta AlarcónRiquelme (University of Uppsala, Sweden), who led the team.
“This is a very important finding”, says Tim Behrens (University of Minnesota Medical School, Minneapolis, MN, USA). “PDCD1 is really the first gene identified in human lupus localised primarily by a genome-wide screen in families with multiple cases of the disease.” Behrens adds that the PDCD1 gene is involved in controlling immune responses. “If the disease gene has an impaired ability to downregulate certain autoimmune responses”, he says, “this could directly contribute to the overactive humoral immune responses and autoantibody production that we see in patients with SLE”. Robert Kimberly (University of Alabama at Birmingham, AL, USA) says that these results bolster the idea that several genes, in conjunction with environmental factors, contribute to lupus. At least five other locations on the human genome have been implicated in the development of the disease, he notes.
Science Photo Library
acial and regional disparities in cancer screening still persist, report US researchers this week. The investigators found that colorectal cancer screening rates were lower for rural residents than non-rural residents, and for AfricanAmericans living in 11 south US states, compared with whites in these states and with African-Americans in other parts of the USA. Less disparity, however, was noted for cervical and breast cancer screening. The major finding of the study was that racial differences were less notable than regional differences, explains senior researcher Steven Coughlin, an epidemiologist with the Division of Cancer Prevention and Control at the Centers for Disease Control and Prevention (Atlanta, GA, USA). Coughlin and colleagues used the Behavioral Risk Factor Surveillance System (BRFSS) colorectal cancer screening data for 1997 and 1999 and the BRFSS breast and cervical cancer screening data for 1998–2000 to evaluate screening rates in AfricanAmerican and white residents (2165–5888 women and 1198 men) of the “Black Belt”, a term used to
R
36·9% in non-Black Belt counties, and 42·5% in the rest of the USA. For white women, rates of FOBT were 37·7%, 44%, and 45·3%, respectively. Similar patterns were noted among both men and women for FOBT, flexible sigmoidoscopy, and colonoscopy. “These results underscore the need for continued efforts to ensure that adults in the non-metropolitan south receive educational messages, outreach, and provider recommendations about the importance of routine cancer screening”, says Coughlin. We need to get the message out to people that they are at risk, and there are safe and available preventive tests available, comments Douglas Rex (Indiana University School of Medicine, Indianapolis, IN, USA). “This study has identified an additional risk factor—which is rural location”, he adds. “And at least in this study, it is, overall, more important than race. So it helps to point us in another direction where our educational efforts need to be directed.” Roxanne Nelson
News in brief Warning over anticoagulant drug Five patients have died after having severe anaphylactic reactions to the anticoagulant lepirudin, according to a statement issued by the European Medicines Evaluation Agency (EMEA) on Oct 29. The anaphylactic reaction often occurred after re-exposure to the drug, and in several cases the drug was prescribed outside its approved indication (http://www. emea.eu.int). Statins and Alzheimer’s disease Treatment with statins at clinically relevant doses affects cholesterol turnover in the CNS, but has no effects on CNS concentrations of amyloid peptide (A), according to the results of a case-control study published this week. “In clinically relevant doses, statins may not have major effects on A secretion as a currently discussed strategy to halt progression of Alzheimer’s disease”, the researchers conclude (Neurology 2002; 59: 1257–58).
David Lawrence
THE LANCET • Vol 360 • November 2, 2002 • www.thelancet.com
1399
For personal use. Only reproduce with permission from The Lancet Publishing Group.