The Malta BioBank: At the Heart of
Euro-Mediterranean BioBanking
Felice AE, Vella J, Fiott A, Bezzina Wettinger S, Galdies R.
Malta BioBank, Laboratory of Molecular Genetics,
Department of Physiology & Biochemistry, University of Malta
Introduction
The Malta BioBank was developed in the context of the National
Genetics Program (NGP) that included the Thalassaemia Project and
Newborn Testing. The NGP is a partnership between the University of
Malta and the Malta Department of Health. The Malta Biobank is a
founding member of EuroBioBank and BBMRI and is one of only a few
banks in the Euro-Mediterranean region. The additional partnership in
the network of Haemoglobin laboratories and clinics (ITHANET &
GLOBINBANK) provided a resource for hypothesis based population
biobanking, discovery with large informative families and the basis for
genomics in the Mediterranean [1].
1980
1990
2000
2009
Total Population
318028
355,910
382,525
412,970
No. of births/ yr
5602 (MT only)
5368 (MT only)
4392
4143
Non-MT births
not listed
not listed
137 (3.11%)
430 (10.38%)
Crude birth rate
17.6
15.1
11.3
10
Unidentified
7%
Hb Camperdown
3%
Hb Athens
3%
Hb Setif
17%
Hb S
35%
Hb St Luke's
35%
Fig. 1 Hb variants in Adults: 1999; n=29 from 5606 samples
Hb O Arab
3%
Hb C
3%
Hb Camperdown
3%
Hb E
11%
Hb Marseille
5%
HbSt Luke's & β
Thal trait 3%
Hb S
12%
Hb Setif
11%
Hb St Luke's
49%
Table 1: Population demographics of the Maltese Islands
Collections of the Malta BioBank
Fig. 2 Hb variants in Adults: 2008 – 2009; n=28 from 6052 samples
The Malta BioBank consists of a clinical bank and a population bank.
The combination of population and families makes it an essential tool
for population based gene discovery research [2]. The genetic origins,
epidemiology, mobility and structure of the small island population are
well understood, thus adding value to the biobank [3,4]. A summary of
the collections is given in (Table 2).
Population Bank
Clinical Bank
Random neonate collection
(N~4000; Npools~400)
Globin Bank:
Thalassaemia & Hb variants
(N~300)
Twin Malta: Twin/Triplet/ Multiple births
(N~700)
Type 2 DM
(NMalta~200; NLibya~200)
Collection of "healthy" senior citizens
(N~600)
Miscarriage MTHFR mutant allele:
42.4% parents vs 33.9% random neonates
(N~150 samples & 53 controls)
Geoparkinson's collection: (N~200) &
age-matched controls: (N~400) &
lifestyle questionnaires
Rare disease collections:
(DNA + clinical data)
Cystic Fibrosis (N~35)
Muscular Dystrophy (N~6)
Hb Setif &
Hb St Luke's
5%
HbS
25%
FM1
70%
Fig. 3 Hb variants in Neonates: 1999; n=79 from 5045 samples
Hb St Luke's
Hb Setif 8%
2%
Hb S
13%
FM3
5%
FM1
72%
Table 2: A list of collections stored in the Malta BioBank
The collection of random neonates from the newborn diagnostic
program has proven to be a robust and unbiased reference for a
number of projects, such as the whole genome evaluation for risk of
diabetes. It also anchors a developing collection of representative
adults from among random families for genomics and biomarker
discovery that is hypothesis driven. Since termination of pregnancies is
not preferred, the neonate collection is better representative of genetic
risk.
The population demographics of the Maltese Islands have changed
over the past thirty years (Table 1). The Maltese population has
increased by 94942 citizens over 29 years. Although the total number
of births is decreasing, there was a significant percentage increase in
the number of registered non-Maltese births over 9 years from 3.11%
in 2000 to 10.38% in 2009. Out of a total of 2353 registered marriages
in 2009, 35.8% (i.e. 842) involved at least one non-Maltese individual
[5]. The progressive structured change is quantitatively reflected in the
Haemoglobin epidemiology over time.
Haemoglobin (Hb) variants
Figures 1 to 4 show the difference in percentages of Hb variants in
adults who visited the Thalassaemia clinic and neonates born in Malta.
Figure 5 shows the recorded percentages of Hb variants in newborns
having at least one parent of non-Maltese origin.
Based on Hb quantitative epidemiology it is assumed that 2-3 alleles at
Fig. 4 Hb variants in Neonates: 2008 – 2009; n=62 from 4500 samples
Hb E
12%
Hb Setif
16%
FM1
40%
Hb S
32%
Fig. 5 Hb variants in non-Maltese Neonates: 2009 - 2010
2–3 loci could generate a broad range of quantitative complexity in
phenotypes and account for trans-selective pressures on the regional
shaping of genomes. The hypothesis is being explored in connection
with the genetics of complex disease such as T2DM. The Hb
partnership (ITHANET) presents a sound basis for co-operation in
Human Genomics between Mediterranean and Middle Eastern
populations.
References
1.Felice AE, Bezzina Wettinger S, Buhagiar S, Cassar W, Galdies R, Grech JL et al. Molecular epidemiology of haemoglobin and the molecular biology of in
vivo globin gene expression. Life Chemistry Reports 1997;15(1):27-36.
2.Borg J, Papdopoulos P, Gerogitsi M, Gutierrez L, Grech G, Fanis P et al. Haploinsufficiency for the erythroid transciption factor KLF1 causes hereditary
persistence of fetal hemoglobin. Nature Genetics 2010;42(9):801-5.
3.Capelli C, Redhead N, Novelletto N, Terrenato L, Malaspina P, Poulli Z et al. Population structure in the mediterranean basin: A Y chromosome perspective.
Ann Hum Genet. 2005;206(70):207-255.
4.http://www.nso.gov.mt/themes/theme_page.aspx?id=77 (accessed 12th August, 2010).
5.http://www.timesofmalta.com/articles/view/20100514/local/third-of-marriages-in-malta involve-at-least-one-foreigner (accessed 15th May, 2010).