Why genes, not diet, may increase your chances of getting heart disease

Scientists have achieved an important breakthrough in understanding why some people are born with a strong predisposition to heart disease while others appear to be able to eat fatty food with very little or no increased risk.

The findings could lead to new ways of treating people with naturally high cholesterol – strongly linked to an increased risk of heart disease, the biggest killer in Western countries – with drugs that are tailor-made to suit a person's particular genetic makeup – so-called "personalised medicine".

The study, which scanned the entire genomes of 100,000 people from around the world, identified 95 individual locations in their DNA where genetic differences from one person to another conferred a significantly increased risk of higher-than-normal levels of cholesterol in the bloodstream.

The scientists said that 59 of these genetic mutations were not previously known to them and that, taken together, all of these 95 variations in the DNA of people account for between a quarter and a third of the genetic component of heart disease – the genes that predispose someone at birth to cardiovascular disorders.

It has long been established that heart disease has a genetic component in addition to the well-known environmental influences of diet and lack of exercise, but until now there has been little that scientists could do to tease out the many different genes that are involved in raising the risk of developing cardiovascular problems.

The latest study, published in the journal Nature, has gone further than any previous research involving genome-wide scans by identifying the precise biological mechanism that causes one of these 95 mutations to affect cholesterol levels. The researchers believe the results vindicate the intensive efforts spent in recent years on this new approach of genome-wide scans.

"One of the criticisms of genome-wide association studies has been that they fail to identify specific genes that cause disease," said Professor Daniel Rader of the University of Pennsylvania School of Medicine in Philadelphia. "This is one of the first examples in which a spot on a chromosome identified by genome-wide association studies has been extended to pinpoint the causal gene and relevant physiology."

The genetic variant in question resides on a region of chromosome 1. It is carried by about 20 per cent of the population and results in a small but significant lowering of low-density lipoprotein (LDL), the "bad" cholesterol. Subsequent studies on laboratory mice showed that the genetic variant affects the activity of a gene on another part of the same chromosome called Sort1, which is involved in the production of LDL in the liver.

Such a precise identification of how a single genetic variation can affect cholesterol levels is the sort of advance that genome researchers have been hoping for because it demonstrates the possibility of using the technique to produce viable targets for the development of new drugs.

"The Sort1 pathway is an unexpected but promising new target for therapeutic intervention to reduce LDL cholesterol and, in turn, heart attacks," said Kiran Musunuru of Massachusetts General Hospital in Boston, one of the members of the research consortium involving scientists from 17 countries.

The painstaking comparison of the genomes of so many people has been made possible by the automated sequencing of DNA using "gene chips", which has made rapid progress since the first sequencing of the human genome 10 years ago.

"The new findings point us to specific genetic signposts that allow us to understand more fully why many people from all walks of life have abnormal levels of cholesterol and other blood lipids that lead to heart disease," said Christopher O'Donnell, associate director of a long-term research project in America known as the Framingham Heart Study.

"What's really exciting about this work is that we are moving from discovery to understanding brand new information about how genes alter the lipids that contribute to heart disease," Dr O'Donnell said.

Voices
On the last day of campaigning before the polling booths open, the SNP leader has written to voters in a final attempt to convince them to vote for independence
scotland decidesIs a huge gamble on oil keeping First Minister up at night?
Arts and Entertainment
Rosalind Buckland, the inspiration for Cider with Rosie died this week
booksBut what is it like to be the person who inspires a classic work of art?
Life and Style
techApple has just launched its latest mobile operating software – so what should you do first?
News
A male driver reverses his Vauxhall Astra from a tow truck
newsThe 'extremely dangerous' attempt to avoid being impounded has been heavily criticised
PROMOTED VIDEO
Arts and Entertainment
Lionel Messi in action for Barcelona
filmSo what makes the little man tick?
Arts and Entertainment
tvReview: An undercooked end (spoiler alert)
News
i100
News
ebooksAn unforgettable anthology of contemporary reportage
Arts and Entertainment
Pharrell dismissed the controversy surrounding
musicThe singer said 'the last thing I want to do is degrade'
Sport
Cesc Fabregas celebrates his first Chelsea goal
footballChelsea vs Schalke match report
Arts and Entertainment
Toby Jones (left) and Mackenzie Crook in BBC4’s new comedy The Detectorists
tvMackenzie Crook's 'Detectorists' makes the hobby look 'dysfunctional', they say
Life and Style
fashion

Olympic diver has made his modelling debut for Adidas

News
i100
Latest stories from i100
Have you tried new the Independent Digital Edition apps?
Independent Dating
and  

By clicking 'Search' you
are agreeing to our
Terms of Use.

iJobs Job Widget
iJobs General

Maths Teacher

£110 - £200 per day: Randstad Education Leeds: Secondary Maths Teacher for spe...

Maths Teacher

£90 - £160 per day: Randstad Education Leeds: Secondary Science Teacher (mater...

Maths Teacher

£110 - £200 per day: Randstad Education Leeds: Secondary Maths Teacher for an ...

Maths Teacher

£22000 - £37000 per annum: Randstad Education Leeds: A West Yorkshire School i...

Day In a Page

Mystery of the Ground Zero wedding photo

A shot in the dark

Mystery of the wedding photo from Ground Zero
His life, the universe and everything

His life, the universe and everything

New biography sheds light on comic genius of Douglas Adams
Save us from small screen superheroes

Save us from small screen superheroes

Shows like Agents of S.H.I.E.L.D are little more than marketing tools
Reach for the skies

Reach for the skies

From pools to football pitches, rooftop living is looking up
These are the 12 best hotel spas in the UK

12 best hotel spas in the UK

Some hotels go all out on facilities; others stand out for the sheer quality of treatments
These Iranian-controlled Shia militias used to specialise in killing American soldiers. Now they are fighting Isis, backed up by US airstrikes

Widespread fear of Isis is producing strange bedfellows

Iranian-controlled Shia militias that used to kill American soldiers are now fighting Isis, helped by US airstrikes
Topshop goes part Athena poster, part last spring Prada

Topshop goes part Athena poster, part last spring Prada

Shoppers don't come to Topshop for the unique
How to make a Lego masterpiece

How to make a Lego masterpiece

Toy breaks out of the nursery and heads for the gallery
Meet the ‘Endies’ – city dwellers who are too poor to have fun

Meet the ‘Endies’ – city dwellers who are too poor to have fun

Urbanites are cursed with an acronym pointing to Employed but No Disposable Income or Savings
Paisley’s decision to make peace with IRA enemies might remind the Arabs of Sadat

Ian Paisley’s decision to make peace with his IRA enemies

His Save Ulster from Sodomy campaign would surely have been supported by many a Sunni imam
'She was a singer, a superstar, an addict, but to me, her mother, she is simply Amy'

'She was a singer, a superstar, an addict, but to me, her mother, she is simply Amy'

Exclusive extract from Janis Winehouse's poignant new memoir
Is this the role to win Cumberbatch an Oscar?

Is this the role to win Cumberbatch an Oscar?

The Imitation Game, film review
England and Roy Hodgson take a joint step towards redemption in Basel

England and Hodgson take a joint step towards redemption

Welbeck double puts England on the road to Euro 2016
Relatives fight over Vivian Maier’s rare photos

Relatives fight over Vivian Maier’s rare photos

Pictures removed from public view as courts decide ownership
‘Fashion has to be fun. It’s a big business, not a cure for cancer’

‘Fashion has to be fun. It’s a big business, not a cure for cancer’

Donatella Versace at New York Fashion Week