Publications of Metneki, J.

Central and Eastern European Special Issue

From November 16–19, 2014, twin researchers of the world will descend on the lovely city of Budapest, Hungary for the 3rd World Congress on Twin Pregnancy, held in conjunction with the 15th Congress of the International Society of Twin Studies (ISTS). It is the first time a Central and Eastern European country will host the congress. On this occasion, we were honored by the request from the editor of Twin Research and Human Genetics, Nick Martin, to put together a special issue highlighting twin research conducted in Central and Eastern Europe (CEE).

Genetic impact dominates over environmental effects in development of carotid artery stiffness: a twin study

Arterial stiffness is an independent predictor of cardiovascular, cerebrovascular and all-cause mortality. Quantifying the genetic influence on the stiff arterial phenotype allows us to better predict the development of arterial stiffness. In this study, we aimed to determine the heritability of carotid artery stiffness in healthy twins. We studied 98 twin pairs of both sexes. We determined carotid artery stiffness locally using echo tracking and applanation tonometry. We estimated the heritability of stiffness parameters using structural equation modeling. The carotid distensibility coefficient showed the highest heritability (64%, 95% confidence interval 45–77%). The incremental elastic modulus, compliance and stiffness index β also showed substantial heritability (62%, 61% and 58%, respectively). The remaining 36–42% phenotypic variance was attributed to unshared environmental effects. Genetic influence appears to dominate over environmental factors in the development of carotid artery stiffness. Environmental factors may have an important role in favorably influencing the genetic predisposition for accelerated arterial stiffening.

The Hungarian Twin Registry

The first Hungarian Twin Registry was established in Budapest in 1970 through the mandatory reporting of multiple-births. In the 1980s a second, volunteer adult registry was also founded. Unfortunately, both registries ceased to exist in the 1990s. Efforts started in 2006 to revive a Hungarian twin registry. The team spearheading this effort reports here on this progress. Currently, the voluntary Hungarian Twin Registry consists of 310 adult twin pairs and multiplets. Current research focuses on cardiovascular and respiratory health and yielded multiple awards and publications. Efforts are on the way to expand into social, psychological, and obesity studies.

Magyarországi ikerkutatások: négy évtized eredményei

Az ikervizsgálatok szerepet játszanak a fenotípusos változók kialakulásáért felelős genetikai és környezeti tényezők arányának, továbbá a genotípusok közötti genetikai kapcsoltság vizsgálatában. Magyarországon az ikerkutatások döntően az 1970-es években kezdődtek és alapjukat három ikernyilvántartás (köztük két iker-regiszter) biztosította. A vizsgálatok elsősorban a különböző veleszületett rendellenességekre, a fogamzásgátló tabletták és a folsav ikergyakoriságra való hatására, az ikrek pszichoszexuális viselkedésének megismerésére, az alkoholfogyasztási szokások örökletességének becslésére irányultak. Először mutatták ki a laktóz(mal)abszorpció monogénes mendeli öröklődését. 2007-ben alakult meg a Magyar Ikerregiszter, amelynek segítségével több ikervizsgálatra nyílt ismét lehetőség, például a metabolikus szindróma és az érelmeszesedés hátterének megértésére. Nemzetközi ikervizsgálat során többek között az artériás stiffness, a centrális vérnyomás, a carotis intima/media falvastagság, a vénás biomechanika, a testösszetétel, a légzésfunkció és a dohányzási szokások vizsgálatára is sor került. Először sikerült kimutatni a nem alkoholos zsírmáj örökletességének hiányát és a carotisplakkok kialakulásában az öröklődés szerepét. A dolgozat a Magyar Ikerregiszter jövőbeni terveiről is áttekintést nyújt. Orv. Hetil., 2013, 154, 1579–1586. | Twin studies play a role in examining the contribution of genetic variations and environmental factors responsible for the determination of phenotypic variables and of genetic linkage between genotypes. Hungarian twin studies, supported by three twin registries (among them two twin-database), date back to 1970s. Studies mainly focused on various congenital abnormalities, the effect of contraceptive pills and folic acid on the frequency of twin pregnancies, as well as psychosexual and alcohol consumptional behaviors. Monogenic Mendelian inheritance of lactose (mal)absorption was demonstrated for the first time. Hungarian Twin Registry was founded in 2007, which contributed to the current understanding on the background of several disorders, e.g. metabolic syndrome and atherosclerosis. As part of an international twin study, among others, arterial stiffness, central blood pressure, carotid intima/media thickness, venous biomechanics, body composition, lung function and smoking characteristics were also assessed. Absence of genetic background in non-alcoholic fatty liver disease and high inheritance of carotid plaque characteristics were demonstrated for the first time. The review also aims to summarize future plans of the Hungarian Twin Registry. Orv. Hetil., 2013, 154, 1579–1586.

Evidence for a strong genetic influence on carotid plaque characteristics: an international twin study

Background and Purpose— Few family studies reported moderate genetic impact on the presence and scores of carotid plaques. However, the heritability of carotid plaque characteristics remains still unclear. Twin studies more reliably estimate the relative contribution of genes to these traits in contrast to family study design. Methods— One hundred ninety-two monozygotic and 83 dizygotic adult twin pairs (age 49±15 years) from Italy, Hungary, and the United States underwent B-mode and color Doppler ultrasound of bilateral common, internal, and external carotid arteries. Results— Age-, sex-, and country-adjusted heritability was 78% for the presence of carotid plaque (95% CI, 55%–90%), 74% for plaque echogenicity (hypoechoic, hyperechoic, or mixed; 95% CI, 38%–87%), 69% for plaque size (area in mm2 in longitudinal plane; < or >50 percentile; 95% CI, 16%–86%), 74% for plaque sidedness (unilateral or bilateral; 95% CI, 25%–90%), 74% for plaque numerosity (95% CI, 26%–86%), 68% (95% CI, 40%–84%), and 66% (95% CI, 32%–90%) for the presence of plaque in carotid bulbs and proximal internal carotid arteries. No role of shared environmental factors was found. Unique environmental factors were responsible for the remaining variance (22%–34%). Controlling for relevant covariates did not change the results significantly. Conclusions— The heritability of ultrasound characteristics of carotid plaque is high. Unshared environmental effects account for a modest portion of the variance. Our findings should stimulate the search for genes responsible for these traits.

Psychosexual Study of Communist Era Hungarian Twins

Our aim in this study is to describe the characteristics of sexual development in twins and estimate the role of heritability and environmental factors as causes of certain sexual disorders. Two hundred and ten adult same-sex twin pairs (92 monozygotic [MZ] female, 41 MZ male, 55 dizygotic [DZ] female and 22 DZ male pairs) were involved in the study. Data were collected in 1982 by self-administered questionnaires that included items on sexual maturation, sexual life, contraception, mutual sexual activity within twin pairs and alcohol use. The ratio of married to unmarried twins was nearly the same in MZs and DZs, with the exception that the divorce rate was higher in MZ female twins (14%), and DZ and male twins were slightly more likely to be single. Menarche was later in twins compared to non-twin Hungarian women. 57% of MZs experienced menarche within 3 months of each other, 77% within 6 months while it occurred for 30% and 43% respectively in DZs. The first seminal emission indicated some delay in male twins compared with the Hungarian general population sample. MZ first kisses occurred later than DZ's first kisses. The same was true for the first petting, masturbation and first sexual intercourse. Anorgasmy is 27% heritable but the estimate is not statistically significant. Concordance rate for premature ejaculation in MZs was greater than in DZs but the structural equation model showed significant misfit. Age at menarche appeared to be strongly heritable.